Loading
description Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Netherlands, Italy, United Kingdom, United StatesElsevier BV Tripathy, R; Leca, I; Van Dijk, T; Weiss, J; Van Bon, B; Sergaki, M; Gstrein, T; Breuss, M; Tian, G; Bahi-Buisson, N; Paciorkowski, A; Pagnamenta, A; Wenninger-Weinzierl, A; Martinez-Reza, M; Landler, L; Lise, S; Taylor, J; Terrone, G; Vitiello, G; Del Giudice, E; Brunetti-Pierri, N; D'Amico, A; Reymond, A; Voisin, N; Bernstein, J; Farrelly, E; Kini, U; Leonard, T; Valence, S; Burglen, L; Armstrong, L; Hiatt, S; Cooper, G; Aldinger, K; Dobyns, W; Mirzaa, G; Pierson, T; Baas, F; Chelly, J; Cowan, N; Keays, D;Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule associated protein, that is predominantly expressed in post-mitotic neurons, and is present in both dendritic and axonal compartments. We further show that Mast1 null animals are phenotypically normal, whereas the deletion of a single amino acid (L278del) recapitulates the distinct neurological phenotype observed in patients. In animals harboring Mast1 microdeletions we find that the PI3K/AKT3/mTOR pathway is unperturbed, whereas Mast2 and Mast3 levels are diminished, indicative of a dominant negative mode of action. Finally, we report that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.neuron.2018.10.044&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu36 citations 36 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!visibility 21visibility views 21 download downloads 9 Powered bymore_vert Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.neuron.2018.10.044&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type , Report , Preprint 2018 Argentina, France, Italy, Poland, Italy, United Kingdom, United Kingdom, Switzerland, Germany, Italy, Italy, Norway, Turkey, Netherlands, Italy, Italy, Netherlands, Netherlands, Spain, United States, Italy, Portugal, Switzerland, Italy, Turkey, Turkey, United Kingdom, Spain, Netherlands, Italy, Netherlands, Portugal, Denmark, Italy, ItalySpringer Science and Business Media LLC Aaboud, M; Aad, G; Abbott, B; Abdinov, O; Abeloos, B; Abhayasinghe, DK; Abidi, SH; AbouZeid, OS; Abraham, NL; Abramowicz, H; Abreu, H; Abulaiti, Y; Acharya, BS; Adachi, S; Adamczyk, L; Adelman, J; Adersberger, M; Adiguzel, A; Adye, T; Affolder, AA; Afik, Y; Agheorghiesei, C; Aguilar-Saavedra, JA; Ahmadov, F; Aielli, G; Akatsuka, S; Akesson, TPA; Akilli, E; Akimov, AV; Alberghi, GL; Albert, J; Albicocco, P; Alconada Verzini, MJ; Alderweireldt, S; Aleksa, M; Aleksandrov, IN; Alexa, C; Alexopoulos, T; Alhroob, M; Ali, B; Alimonti, G; Alison, J; Alkire, SP; Allaire, C; Allbrooke, BMM; Allen, BW; Allport, PP; Aloisio, A; Alonso, A; Alonso, F; Alpigiani, C; Alshehri, AA; Alstaty, MI; Alvarez Gonzalez, B; Alvarez Piqueras, D; Alviggi, MG; Amadio, BT; Amaral Coutinho, Y; Ambroz, L; Amelung, C; Amidei, D; Amor Dos Santos, SP; Amoroso, S; Amrouche, CS; Anastopoulos, C; Ancu, LS; Andari, N; Andeen, T; Anders, CF; Anders, JK; Anderson, KJ; Andreazza, A; Andrei, V; Anelli, CR; Angelidakis, S; Angelozzi, I; Angerami, A; Anisenkov, AV; Annovi, A; Antel, C; Anthony, MT; Antonelli, M; Antrim, DJA; Anulli, F; Aoki, M; Aparisi Pozo, JA; Bella, L Aperio; Arabidze, G; Araque, JP; Araujo Ferraz, V; Araujo Pereira, R; Arce, ATH; Ardell, RE; Arduh, FA; Arguin, J-F; Argyropoulos, S; Armbruster, AJ; Armitage, LJ; Armstrong, A; Arnaez, O; Arnold, H; Arratia, M; Arslan, O; Artamonov, A; Artoni, G; Artz, S; Asai, S; Asbah, N; Ashkenazi, A; Asimakopoulou, EM; Asquith, L; Assamagan, K; Astalos, R; Atkin, RJ; Atkinson, M; Atlay, NB; Augsten, K; Avolio, G; Avramidou, R; Ayoub, MK; Azuelos, G; Baas, AE; Baca, MJ; Bachacou, H; Bachas, K; Backes, M; Bagnaia, P; Bahmani, M; Bahrasemani, H; Bailey, AJ; Baines, JT; Bajic, M; Bakalis, C; Baker, OK; Bakker, PJ; Gupta, D Bakshi; Baldin, EM; Balek, P; Balli, F; Balunas, WK; Balz, J; Banas, E; Bandyopadhyay, A; Banerjee, S; Bannoura, AAE; Barak, L; Barbe, WM; Barberio, EL; Barberis, D; Barbero, M; Barillari, T; Barisits, M-S; Barkeloo, J; Barklow, T; Barlow, N; Barnea, R; Barnes, SL; Barnett, BM; Barnett, RM; Barnovska-Blenessy, Z; Baroncelli, A; Barone, G; Barr, AJ; Barranco Navarro, L; Barreiro, F; da Costa, J Barreiro Guimaraes; Bartoldus, R; Barton, AE; Bartos, P; Basalaev, A; Bassalat, A; Bates, RL; Batista, SJ; Batlamous, S; Batley, JR; Battaglia, M; Bauce, M; Bauer, F; Bauer, KT; Bawa, HS; Beacham, JB; Beattie, MD; Beau, T; Beauchemin, PH; Bechtle, P; Beck, HC; Beck, HP; Becker, K; Becker, M; Becot, C; Beddall, A; Beddall, AJ; Bednyakov, VA; Bedognetti, M; Bee, CP; Beermann, TA; Begalli, M; Begel, M; Behera, A; Behr, JK; Benitez, J; Carminati, L; D'Auria, S; Dell'Asta, L; Di Donato, C; Fanti, M; Iuppa, R; Lazzaroni, M; Meroni, C; Parodi, F; Perini, L; Ragusa, F; Schiavi, C; Sforza, F; Stabile, A;doi: 10.1140/epjc/s10052-018-6288-9 , 10.7892/boris.129068 , 10.3204/pubdb-2018-04578 , 10.48550/arxiv.1802.08168
handle: 1956/20621 , 1822/57544 , 11587/426657 , 10400.26/27585 , 11590/346918 , 20.500.11851/3591 , 10481/64507 , 20.500.11770/306490 , 2066/199394 , 11245.1/b8413f25-b2d3-4005-9273-34c1b8841556 , 20.500.11820/17439937-7ed2-4bb7-88b4-f49a68e7205c , 11367/72113 , 11336/118067 , 11572/318609 , https://repository.ubn.ru.nl/handle/2066/199394 , 11567/1113599 , 2434/671596
doi: 10.1140/epjc/s10052-018-6288-9 , 10.7892/boris.129068 , 10.3204/pubdb-2018-04578 , 10.48550/arxiv.1802.08168
handle: 1956/20621 , 1822/57544 , 11587/426657 , 10400.26/27585 , 11590/346918 , 20.500.11851/3591 , 10481/64507 , 20.500.11770/306490 , 2066/199394 , 11245.1/b8413f25-b2d3-4005-9273-34c1b8841556 , 20.500.11820/17439937-7ed2-4bb7-88b4-f49a68e7205c , 11367/72113 , 11336/118067 , 11572/318609 , https://repository.ubn.ru.nl/handle/2066/199394 , 11567/1113599 , 2434/671596
The performance of the missing transverse (E-T(miss) momentum) reconstruction with the ATLAS detector is evaluated using data collected in proton-proton collisions at the LHC at a centre-of-mass energy of 13 TeV in 2015. To reconstruct E-T(miss), fully calibrated electrons, muons, photons, hadronically decaying tau-leptons, and jets reconstructed from calorimeter energy deposits and charged-particle tracks are used. These are combined with the soft hadronic activity measured by reconstructed charged-particle tracks not associated with the hard objects. Possible double counting of contributions from reconstructed charged-particle tracks from the inner detector, energy deposits in the calorimeter, and reconstructed muons from the muon spectrometer is avoided by applying a signal ambiguity resolution procedure which rejects already used signals when combining the various E-T(miss) contributions. The individual terms as well as the overall reconstructed E-T(miss) are evaluated with various performance metrics for scale (linearity), resolution, and sensitivity to the data-taking conditions. The method developed to determine the systematic uncertainties of the E-T(miss) scale and resolution is discussed. Results are shown based on the full 2015 data sample corresponding to an integrated luminosity of 3.2 fb(-1). Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Japan Society for the Promotion of Science Australian Government Department of Industry, Innovation and Science Cooperative Research Centres (CRC) Programme National Science Foundation (NSF) NSF - Directorate for Mathematical & Physical Sciences (MPS) 1624739 Ministry of Education, Youth & Sports - Czech Republic Czech Republic Government Netherlands Organization for Scientific Research (NWO) Netherlands Government Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Departamento Administrativo de Ciencia, Tecnologia e Innovacion Colciencias Comision Nacional de Investigacion Cientifica y Tecnologica (CONICYT) National Council for Scientific and Technological Development (CNPq) Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) Natural Sciences and Engineering Research Council of Canada European Union (EU) European Research Council (ERC) National Natural Science Foundation of China (NSFC) Ministry of Science and Higher Education, Poland Portuguese Foundation for Science and Technology Ministry of Energy & Natural Resources - Turkey Federal Ministry of Education & Research (BMBF) Science & Technology Facilities Council (STFC) Azerbaijan National Academy of Sciences (ANAS) Istituto Nazionale di Fisica Nucleare (INFN) Ministry of Science and Technology, Taiwan Ministry of Science and Technology, China CERCA Programme Generalitat de Catalunya United States Department of Energy (DOE) Danish Natural Science Research Council US-Israel Binational Science Foundation Swiss National Science Foundation (SNSF French National Research Agency (ANR) Fondation Partager le Savoir, France Slovenian Research Agency - Slovenia Greek Ministry of Development-GSRT Hong Kong Research Grants Council National Science Foundation (NSF) German Research Foundation (DFG) Canada Foundation for Innovation Ontario Innovation Trust, Canada Japanese Urological Association Wallenberg Foundation, Sweden Horizon 2020, European Union Australian Research Council Austrian Science Fund (FWF) Chinese Academy of Sciences NRC KI, Russian Federation Czech Republic Government Royal Society of London Benoziyo Center, Israel Generalitat Valenciana Canton of Switzerland DST/NRF, South Africa CEA-DRF/IRFU, France European Union (EU) IN2P9-CNRS, France Max Planck Society Canton of Geneva Leverhulme Trust MNE/IFA, Romania Minerva, Israel YerPhI, Armenia MSSR, Slovakia BMWFW, Austria CNRST, Morocco I-CORE, Israel Compute Canada MIZS, Slovenia Canada Council DNRF, Denmark MESTD, Serbia SSTC, Belarus IIGF, Germany MINECO, Spain MES of Russia ISF, Isreael RCN, Norway NCN, Poland NRC, Canada CERN, Chile BRF, Norway CANARIE ANPCyT FQRNT BCKDF SERI JINR
Archivio della ricer... arrow_drop_down Archivio della ricerca - Università degli studi di Napoli "Parthenope"; METIS Research Information System; European Physical Journal C: Particles and Fields; TOBB ETU GCRIS Database; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOther literature type . Article . 2018License: CC BYData sources: Archivio della ricerca - Università degli studi di Napoli "Parthenope"; Crossref; METIS Research Information System; TOBB ETU GCRIS Database; NARCIS; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOxford University Research ArchiveOther literature type . 2019License: CC BYData sources: Oxford University Research ArchiveLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2018Recolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2018License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTABern Open Repository and Information System (BORIS)Article . 2018Data sources: Bern Open Repository and Information System (BORIS)Copenhagen University Research Information SystemArticle . 2018Data sources: Copenhagen University Research Information SystemArchivio della Ricerca - Università di PisaArticle . 2018Data sources: Archivio della Ricerca - Università di PisaRecolector de Ciencia Abierta, RECOLECTA; Repositorio Institucional Universidad de GranadaOther literature type . Article . 2020 . 2018License: CC BYeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaThe University of Manchester - Institutional RepositoryArticle . 2018Data sources: The University of Manchester - Institutional RepositoryBergen Open Research Archive - UiBArticle . 2018License: CC BYData sources: Bergen Open Research Archive - UiBArchivio della Ricerca - Università di Roma Tor vergataArticle . 2018Data sources: Archivio della Ricerca - Università di Roma Tor vergataHAL - UPEC / UPEM; HAL-Pasteur; HAL-Inserm; Hal-DiderotArticle . 2018Archivio Istituzionale dell'Università della CalabriaArticle . 2018Data sources: Archivio Istituzionale dell'Università della Calabriaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1140/epjc/s10052-018-6288-9&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu178 citations 178 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 25visibility views 25 download downloads 144 Powered bymore_vert Archivio della ricer... arrow_drop_down Archivio della ricerca - Università degli studi di Napoli "Parthenope"; METIS Research Information System; European Physical Journal C: Particles and Fields; TOBB ETU GCRIS Database; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOther literature type . Article . 2018License: CC BYData sources: Archivio della ricerca - Università degli studi di Napoli "Parthenope"; Crossref; METIS Research Information System; TOBB ETU GCRIS Database; NARCIS; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOxford University Research ArchiveOther literature type . 2019License: CC BYData sources: Oxford University Research ArchiveLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2018Recolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2018License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTABern Open Repository and Information System (BORIS)Article . 2018Data sources: Bern Open Repository and Information System (BORIS)Copenhagen University Research Information SystemArticle . 2018Data sources: Copenhagen University Research Information SystemArchivio della Ricerca - Università di PisaArticle . 2018Data sources: Archivio della Ricerca - Università di PisaRecolector de Ciencia Abierta, RECOLECTA; Repositorio Institucional Universidad de GranadaOther literature type . Article . 2020 . 2018License: CC BYeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaThe University of Manchester - Institutional RepositoryArticle . 2018Data sources: The University of Manchester - Institutional RepositoryBergen Open Research Archive - UiBArticle . 2018License: CC BYData sources: Bergen Open Research Archive - UiBArchivio della Ricerca - Università di Roma Tor vergataArticle . 2018Data sources: Archivio della Ricerca - Università di Roma Tor vergataHAL - UPEC / UPEM; HAL-Pasteur; HAL-Inserm; Hal-DiderotArticle . 2018Archivio Istituzionale dell'Università della CalabriaArticle . 2018Data sources: Archivio Istituzionale dell'Università della Calabriaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1140/epjc/s10052-018-6288-9&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 United Kingdom, Germany, Netherlands, Ireland, United States, United KingdomOxford University Press (OUP) NIH | DIET, HORMONES AND RISK O..., AKA | Comprehensive analysis of..., NHMRC | Risk and prognostic facto... +29 projectsNIH| DIET, HORMONES AND RISK OF COLORECTAL CANCERS ,AKA| Comprehensive analysis of hereditary breast and ovarian cancer ,NHMRC| Risk and prognostic factors for breast cancer of different immunohistochemical subtypes ,NHMRC| Risk factors, screening, prophylaxis and outcomes in individuals from breast cancer families: kConFab Follow-Up Study ,NHMRC| Clinical Outcomes In Individuals With An Inherited Predisposition To Breast Cancer ,NIH| Cancer Risk Reduction and Diet: A Cohort Study of Women ,INCa ,NIH| SURVEILLANCE EPIDEMIOLOGY AND END RESULTS ,NHMRC| Epidemiology of Chronic Disease, Health Interventions and DNA Studies ,NIH| Breast Cancer Family Registry Cohort ,NIH| Discovery Expansion and Replication ,NIH| Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) ,NIH| Consortium Study to Identify Breast Cancer Susceptibility Loci ,NIH| A genome-wide association study for breast cancer in BRCA1 mutation carriers ,NIH| NORTHERN CALIFORNIA COOPERATIVE FAMILY REGISTRY ,EC| COGS ,NIH| Australian Breast Cancer Family Registry ,NHMRC| kConFab Follow-Up Project: A Prospective Study of Non-Genetic Risk Modifiers in Women at High Risk for Breast Cancer ,NIH| Shared Genomic Segment Analysis and Tumor Subtyping in High-Risk BrCa Pedigrees ,NIH| CALIFORNIA TEACHERS STUDY ,WT ,NIH| Ontario Familial Breast Cancer Registry ,CIHR ,NIH| Cohort Study of Genetic Susceptibility to Breast Cancer ,NIH| The Nashville Breast Health Study ,NIH| Elucidating Loci Involved in Prostate Cancer Suceptibility ,NIH| Cancer Center Support Grant ,NWO| BBMRI-NL ,NHMRC| Towards cancer control: Population and molecular strategies ,NIH| BIOCHEMICAL MARKERS IN THE NURSES HEALTH STUDY COHORT ,NIH| Southern Community Cohort Study ,AKA| Finnish Centre of Excellence in Cell-Extracellular Matrix ResearchLin, W.Y.; Camp, N.J.; Ghoussaini, M.; Beesley, J.; Michailidou, K.; Hopper, J.L.; Apicella, C.; Southey, M.C.; Stone, J.; Schmidt, M.K.; Broeks, A.; Van't Veer, L.J.; Rutgers, E.J.T.; Muir, K.; Lophatananon, A.; Stewart-Brown, S.; Siriwanarangsan, P.; Fasching, P.A.; Haeberle, L.; Ekici, A.B.; Beckmann, M.W.; Peto, J.; Dos-Santos-Silva, I.; Fletcher, O.; Johnson, N.; Bolla, M.K.; Wang, Q.; Dennis, J.; Sawyer, E.J.; Cheng, T.; Tomlinson, I.; Kerin, M.J.; Miller, N.; Marme, F.; Surowy, H.M.; Burwinkel, B.; Guenel, P.; Truong, T.; Menegaux, F.; Mulot, C.; Bojesen, S.E.; Nordestgaard, B.G.; Nielsen, S.F.; Flyger, H.; Benitez, J.; Zamora, M.P.; Perez, J.I.A.; Menendez, P.; Gonzalez-Neira, A.; Pita, G.; Alonso, M.R.; Alvarez, N.; Herrera, D.; Anton-Culver, H.; Brenner, H.; Dieffenbach, A.K.; Arndt, V.; Stegmaier, C.; Meindl, A.; Lichtner, P.; Schmutzler, R.K.; Muller-Myhsok, B.; Brauch, H.; Bruning, T.; Ko, Y.D.; Tessier, D.C.; Vincent, D.; Bacot, F.; Nevanlinna, H.; Aittomaki, K.; Blomqvist, C.; Khan, S.; Matsuo, K.; Ito, H.; Iwata, H.; Horio, A.; Bogdanova, N.V.; Antonenkova, N.N.; Dork, T.; Lindblom, A.; Margolin, S.; Mannermaa, A.; Kataja, V.; Kosma, V.M.; Hartikainen, J.M.; Wu, A.H.; Tseng, C.C.; Berg, D. van den; Stram, D.O.; Neven, P.; Wauters, E.; Wildiers, H.; Lambrechts, D.; Chang-Claude, J.; Rudolph, A.; Seibold, P.; Flesch-Janys, D.; Radice, P.; Peterlongo, P.; Manoukian, S.; Bonanni, B.; Couch, F.J.; Wang, X.S.; Vachon, C.; Purrington, K.; Giles, G.G.; Milne, R.L.; Mclean, C.; Haiman, C.A.; Henderson, B.E.; Schumacher, F.; Marchand, L. le; Simard, J.; Goldberg, M.S.; Labreche, F.; Dumont, M.; Teo, S.H.; Yip, C.H.; Hassan, N.; Vithana, E.N.; Kristensen, V.; Zheng, W.; Deming-Halverson, S.; Shrubsole, M.J.; Long, J.R.; Winqvist, R.; Pylkas, K.; Jukkola-Vuorinen, A.; Kauppila, S.; Andrulis, I.L.; Knight, J.A.; Glendon, G.; Tchatchou, S.; Devilee, P.; Tollenaar, R.A.E.M.; Seynaeve, C.; Asperen, C.J. van; Garcia-Closas, M.; Figueroa, J.; Lissowska, J.; Brinton, L.; Czene, K.; Darabi, H.; Eriksson, M.; Brand, J.S.; Hooning, M.J.; Hollestelle, A.; Ouweland, A.M.W. van den; Jager, A.; Li, J.M.; Liu, J.J.; Humphreys, K.; Shu, X.O.; Lu, W.; Gao, Y.T.; Cai, H.; Cross, S.S.; Reed, M.W.R.; Blot, W.; Signorello, L.B.; Cai, Q.Y.; Pharoah, P.D.P.; Perkins, B.; Shah, M.; Blows, F.M.; Kang, D.; Yoo, K.Y.; Noh, D.Y.; Hartman, M.; Miao, H.; Chia, K.S.; Putti, T.C.; Hamann, U.; Luccarini, C.; Baynes, C.; Ahmed, S.; Maranian, M.; Healey, C.S.; Jakubowska, A.; Lubinski, J.; Jaworska-Bieniek, K.; Durda, K.; Sangrajrang, S.; Gaborieau, V.; Brennan, P.; Mckay, J.; Slager, S.; Toland, A.E.; Yannoukakos, D.; Shen, C.Y.; Hsiung, C.N.; Wu, P.E.; Ding, S.L.; Ashworth, A.; Jones, M.; Orr, N.; Swerdlow, A.J.; Tsimiklis, H.; Makalic, E.; Schmidt, D.F.;doi: 10.1093/hmg/ddu431
pmc: PMC4334820
pmid: 25168388
handle: 1887/106773 , 1874/331500 , 20.500.12530/40754 , 1765/91217
doi: 10.1093/hmg/ddu431
pmc: PMC4334820
pmid: 25168388
handle: 1887/106773 , 1874/331500 , 20.500.12530/40754 , 1765/91217
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Access to Research a... arrow_drop_down Human Molecular Genetics; Oxford University Research ArchiveOther literature type . Article . 2015 . 2014 . 2016eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/hmg/ddu431&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu46 citations 46 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!visibility 5visibility views 5 download downloads 55 Powered bymore_vert Access to Research a... arrow_drop_down Human Molecular Genetics; Oxford University Research ArchiveOther literature type . Article . 2015 . 2014 . 2016eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/hmg/ddu431&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2018 Norway, United StatesOxford University Press (OUP) IRC, NSF | Collaborative Research: L..., EC | CODEX +1 projectsIRC ,NSF| Collaborative Research: Land Bridges, Ice-Free Corridors, and Biome Shifts: Impacts on the Evolution and Extinction of Horses in Ice-Age Beringia ,EC| CODEX ,Irish Research Council for Science, Engineering and TechnologyJames A. Cahill; Peter D. Heintzman; Kelley Harris; Matthew D. Teasdale; Joshua D. Kapp; André E. R. Soares; Ian Stirling; Daniel G. Bradley; Ceiridwen J. Edwards; Kiley Graim; Aliaksandr A. Kisleika; Alexander V. Malev; Nigel T. Monaghan; Richard E. Green; Beth Shapiro;pmid: 29471451
This article has been accepted for publication in Molecular Biology and Evolution. Published by Oxford University Press. Submitted manuscript version. Published version available at https://doi.org/10.1093/molbev/msy018. Recent genomic analyses have provided substantial evidence for past periods of gene flow from polar bears (Ursus maritimus) into Alaskan brown bears (Ursus arctos), with some analyses suggesting a link between climate change and genomic introgression. However, because it has mainly been possible to sample bears from the present day, the timing, frequency, and evolutionary significance of this admixture remains unknown. Here, we analyze genomic DNA from three additional and geographically distinct brown bear populations, including two that lived temporally close to the peak of the last ice age. We find evidence of admixture in all three populations, suggesting that admixture between these species has been common in their recent evolutionary history. In addition, analyses of ten fossil bears from the now-extinct Irish population indicate that admixture peaked during the last ice age, whereas brown bear and polar bear ranges overlapped. Following this peak, the proportion of polar bear ancestry in Irish brown bears declined rapidly until their extinction. Our results support a model in which ice age climate change created geographically widespread conditions conducive to admixture between polar bears and brown bears, as is again occurring today. We postulate that this model will be informative for many admixing species pairs impacted by climate change. Our results highlight the power of paleogenomics to reveal patterns of evolutionary change that are otherwise masked in contemporary data.
CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/molbev/msy018&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu79 citations 79 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 37visibility views 37 download downloads 92 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/molbev/msy018&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2015 Finland, Belgium, United States, Netherlands, United KingdomPublic Library of Science (PLoS) NIH | Mayo Clinic SPORE in Ovar..., NIH | Genetic Epidemiology of O..., NIH | Risk Factors for Breast C... +38 projectsNIH| Mayo Clinic SPORE in Ovarian Cancer ,NIH| Genetic Epidemiology of Ovarian and Prostate Cancer ,NIH| Risk Factors for Breast Cancer in Younger Nurses ,NIH| USC CANCER CENTER EPIDEMIOLOGY &BIOSTATISTICS UNIT ,NIH| Regulatory T Cell Function in Ovarian Cancer ,CIHR ,NIH| Ovarian Cancer and Gonadotropin Signaling ,NIH| CASE CONTROL STUDY OF OVARIAN CANCER HORMONAL ETIOLOGY ,NIH| Prostate Cancer Risk Enhancers ,NIH| SURVEILLANCE EPIDEMIOLOGY AND END RESULTS ,NIH| Steroid Hormone Genes and Ovarian Cancer Risk ,NIH| Phytoestrogens, alcohol, and endometrial cancer risk ,EC| COGS ,NIH| Training Grant in Genomic Analysis and Interpretation ,NIH| Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) ,NIH| Genes, Hormones &Environment in an Ovarian Cancer Model ,NIH| Core--Tissue Banking and Pathology ,NIH| Haplotype-Based Genome Screen for Ovarian Cancer Loci ,NIH| GENETIC EPIDEMIOLOGY OF OVARIAN CANCER ,NIH| HEREDITARY BREAST CANCER--GENETIC AND MOLECULAR STUDIES ,NIH| BIOCHEMICAL MARKERS IN THE NURSE HEALTH STUDY COHORT ,NIH| THE NATURAL HISTORY OF HEREDITARY BREAST CANCER ,NIH| COLLABORATIVE STUDY OF OVARIAN CANCER IN TWO RISK GROUPS ,NIH| Epidemiology of Ovarian Cancer:New Hypotheses ,NIH| ESTROGEN, DIET, GENETICS AND ENDOMETRIAL CANCER ,NIH| MOLECULAR EPIDEMIOLOGY OF OVARIAN CANCER ,NHMRC| Towards cancer control: Population and molecular strategies ,NIH| SURVEILLANCE EPIDEMIOLOGY AND END RESULTS (SEER) ,NIH| Inflammation and Ovarian Cancer ,NIH| The Progesterone Receptor Gene and Ovarian Cancer Risk ,NIH| Premenopausal Hormone Levels and Risk of Breast Cancer ,NIH| CANCER CENTER SUPPORT GRANT ,NIH| SURVEILLANCE, EPIDEMIOLOGY, AND END RESULTS PROGRAM ,NIH| CASE-CONTROL STUDY OF OVARIAN CANCER IN LOS ANGELES ,NHMRC| Molecular Epidemiology of Ovarian Cancer: The Australian Ovarian Cancer Study National Clinical Follow-Up Core ,NIH| Genetic Variation in the NF-kappaB Pathway and Ovarian Cancer Etiology ,NIH| SURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAM ,NIH| DNA POLYMORPHISMS IN OVARIAN CANCER--CASE CONTROL STUDY ,NIH| NORTHERN CALIFORNIA COOPERATIVE FAMILY REGISTRY ,NIH| RISK FACTORS AND PROGNOSTIC FACTORS FOR OVARIAN CANCER ,NIH| INTERNAL COUNCIL FOR TOBACCO RESEARCH AND TOBACCO INSTITGanna Chornokur; Hui-Yi Lin; Jonathan P Tyrer; Kate Lawrenson; Joe Dennis; Ernest K Amankwah; Xiaotao Qu; Ya-Yu Tsai; Heather S L Jim; Zhihua Chen; Ann Y Chen; Jennifer Permuth-Wey; Katja K H Aben; Hoda Anton-Culver; Natalia Antonenkova; Fiona Bruinsma; Elisa V Bandera; Yukie T Bean; Matthias W Beckmann; Maria Bisogna; Line Bjorge; Natalia Bogdanova; Louise A Brinton; Angela Brooks-Wilson; Clareann H Bunker; Ralf Butzow; Ian G Campbell; Karen Carty; Jenny Chang-Claude; Linda S Cook; Daniel W Cramer; Julie M Cunningham; Cezary Cybulski; Agnieszka Dansonka-Mieszkowska; Andreas du Bois; Evelyn Despierre; Ed Dicks; Jennifer A Doherty; Thilo Dörk; Matthias Dürst; Douglas F Easton; Diana M Eccles; Robert P Edwards; Arif B Ekici; Peter A Fasching; Brooke L Fridley; Yu-Tang Gao; Aleksandra Gentry-Maharaj; Graham G Giles; Rosalind Glasspool; Marc T Goodman; Jacek Gronwald; Patricia Harrington; Philipp Harter; Alexander Hein; Florian Heitz; Michelle A T Hildebrandt; Peter Hillemanns; Claus K Hogdall; Estrid Hogdall; Satoyo Hosono; Anna Jakubowska; Allan Jensen; Bu-Tian Ji; Beth Y Karlan; Linda E Kelemen; Mellissa Kellar; Lambertus A Kiemeney; Camilla Krakstad; Susanne K Kjaer; Jolanta Kupryjanczyk; Diether Lambrechts; Sandrina Lambrechts; Nhu D Le; Alice W Lee; Shashi Lele; Arto Leminen; Jenny Lester; Douglas A Levine; Dong Liang; Boon Kiong Lim; Jolanta Lissowska; Karen Lu; Jan Lubinski; Lene Lundvall; Leon F A G Massuger; Keitaro Matsuo; Valerie McGuire; John R McLaughlin; Iain McNeish; Usha Menon; Roger L Milne; Francesmary Modugno; Kirsten B Moysich; Roberta B Ness; Heli Nevanlinna; Ursula Eilber; Kunle Odunsi; Sara H Olson; Irene Orlow; Sandra Orsulic; Rachel Palmieri Weber; James Paul; Celeste L Pearce; Tanja Pejovic; Liisa M Pelttari; Malcolm C Pike; Elizabeth M Poole; Harvey A Risch; Barry Rosen; Mary Anne Rossing; Joseph H Rothstein; Anja Rudolph; Ingo B Runnebaum; Iwona K Rzepecka; Helga B Salvesen; Eva Schernhammer; Ira Schwaab; Xiao-Ou Shu; Yurii B Shvetsov; Nadeem Siddiqui; Weiva Sieh; Honglin Song; Melissa C Southey; Beata Spiewankiewicz; Lara Sucheston; Soo-Hwang Teo; Kathryn L Terry; Pamela J Thompson; Lotte Thomsen; Ingvild L Tangen; Shelley S Tworoger; Anne M van Altena; Robert A Vierkant; Ignace Vergote; Christine S Walsh; Shan Wang-Gohrke; Nicolas Wentzensen; Alice S Whittemore; Kristine G Wicklund; Lynne R Wilkens; Anna H Wu; Xifeng Wu; Yin-Ling Woo; Hannah Yang; Wei Zheng; Argyrios Ziogas; Hanis N Hasmad; Andrew Berchuck; Georgia Chenevix-Trench; AOCS management group; Edwin S Iversen; Joellen M Schildkraut; Susan J Ramus; Ellen L Goode; Alvaro N A Monteiro; Simon A Gayther; Steven A Narod; Paul D P Pharoah; Thomas A Sellers; Catherine M Phelan;pmc: PMC4474865
pmid: 26091520
BACKGROUND: Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which in turn may promote the formation of reactive oxygen species, promoting DNA damage and aberrant expression of key regulatory cancer genes. As DNA damage and uncontrolled proliferation are hallmarks of cancer, including epithelial ovarian cancer (EOC), we hypothesized that inherited variation in the cellular transport genes contributes to EOC risk. METHODS: In total, DNA samples were obtained from 14,525 case subjects with invasive EOC and from 23,447 controls from 43 sites in the Ovarian Cancer Association Consortium (OCAC). Two hundred seventy nine SNPs, representing 131 genes, were genotyped using an Illumina Infinium iSelect BeadChip as part of the Collaborative Oncological Gene-environment Study (COGS). SNP analyses were conducted using unconditional logistic regression under a log-additive model, and the FDR q<0.2 was applied to adjust for multiple comparisons. RESULTS: The most significant evidence of an association for all invasive cancers combined and for the serous subtype was observed for SNP rs17216603 in the iron transporter gene HEPH (invasive: OR = 0.85, P = 0.00026; serous: OR = 0.81, P = 0.00020); this SNP was also associated with the borderline/low malignant potential (LMP) tumors (P = 0.021). Other genes significantly associated with EOC histological subtypes (p<0.05) included the UGT1A (endometrioid), SLC25A45 (mucinous), SLC39A11 (low malignant potential), and SERPINA7 (clear cell carcinoma). In addition, 1785 SNPs in six genes (HEPH, MGST1, SERPINA, SLC25A45, SLC39A11 and UGT1A) were imputed from the 1000 Genomes Project and examined for association with INV EOC in white-European subjects. The most significant imputed SNP was rs117729793 in SLC39A11 (per allele, OR = 2.55, 95% CI = 1.5-4.35, p = 5.66x10-4). CONCLUSION: These results, generated on a large cohort of women, revealed associations between inherited cellular transport gene variants and risk of EOC histologic subtypes. Contains fulltext : 154822.PDF (Publisher’s version ) (Open Access)
Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaHELDA - Digital Repository of the University of HelsinkiArticle . 2015Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1371/journal.pone.0128106&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu894 citations 894 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 4visibility views 4 download downloads 21 Powered bymore_vert Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaHELDA - Digital Repository of the University of HelsinkiArticle . 2015Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1371/journal.pone.0128106&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2023 United StatesSpringer Science and Business Media LLC Amy, Grossman; Ndola, Prata; Natalie, Williams; Bela, Ganatra; Antonella, Lavelanet; Laurence, Läser; Chilanga, Asmani; Hayfa, Elamin; Leopold, Ouedraogo; Md Mahmudur, Rahman; Musu Julie, Conneh-Duworko; Bentoe Zoogley, Tehoungue; Harriet, Chanza; Henry, Phiri; Bharat, Bhattarai; Narayan Prasad, Dhakal; Olumuyiwa Adesanya, Ojo; Kayode, Afolabi; Theopista John, Kabuteni; Binyam Getachew, Hailu; Francis, Moses; Sithembile, Dlamini-Nqeketo; Thembi, Zulu; Ulrika, Rehnström Loi;In recent years a growing number of manufacturers and medical abortion products have entered country markets and health systems, with varying degrees of quality and accessibility. An interplay of factors including pharmaceutical regulations, abortion laws, government policies and service delivery guidelines and provider's knowledge and practices influence the availability of medical abortion medicines. We assessed the availability of medical abortion in eight countries to increase understanding among policymakers of the need to improve availability and affordability of quality-assured medical abortion products at regional and national levels.Using a national assessment protocol and an availability framework, we assessed the availability of medical abortion medicines in Bangladesh, Liberia, Malawi, Nepal, Nigeria, Rwanda, Sierra Leone and South Africa between September 2019 and January 2020.Registration of abortion medicines-misoprostol or a combination of mifepristone and misoprostol-was established in all countries assessed, except Rwanda. Mifepristone and misoprostol regimen for medical abortion was identified on the national essential medicines list/standard treatment guidelines for South Africa as well as in specific abortion care service and delivery guidelines for Bangladesh, Nepal, Nigeria, and Rwanda. In Liberia, Malawi, and Sierra Leone-countries with highly restrictive abortion laws and no abortion service delivery guidelines or training curricula-no government-supported training on medical abortion for public sector providers had occurred. Instead, training on medical abortion was either limited in scope to select private sector providers and pharmacists or prohibited. Community awareness activities on medical abortion have been limited in scope across the countries assessed and where abortion is broadly legal, most women do not know that it is an option.Understanding the factors that influence the availability of medical abortion medicines is important to support policymakers improve availability of these medicines. The landscape assessments documented that medical abortion commodities can be uniquely impacted by the laws, policies, values, and degree of restrictions placed on service delivery programs. Results of the assessments can guide actions to improve access.Unsafe abortion is a leading cause of death and disability among women of reproductive age. Medical management of abortion with mifepristone and misoprostol pills, or just misoprostol, is a safe and effective way to end a pregnancy. Owing to an increase in the number of medical abortion products that have entered country health systems, we examined access to these medicines from supply to demand in selected countries. The overarching goal of the national landscape assessments was to produce evidence to support advocacy efforts and policymaking for improved access to quality medical abortion products that is appropriate to the needs of the country. This paper aims to describe key findings across eight country settings on the availability of medical abortion medicines and identify key opportunities to improve access to them across countries.
eScholarship - Unive... arrow_drop_down eScholarship - University of CaliforniaArticle . 2023Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1186/s12978-023-01574-3&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Top 10% influence Top 10% impulse Average Powered by BIP!more_vert eScholarship - Unive... arrow_drop_down eScholarship - University of CaliforniaArticle . 2023Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1186/s12978-023-01574-3&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 Germany, Turkey, Netherlands, United States, Brazil, Belgium, Finland, Spain, Italy, France, France, Italy, United KingdomCold Spring Harbor Laboratory Parma, Valentina; Ohla, Kathrin; Veldhuizen, Maria G; Niv, Masha Y; Kelly, Christine E; Bakke, Alyssa J; Cooper, Keiland W; Bouysset, Cédric; Pirastu, Nicola; Dibattista, Michele; Kaur, Rishemjit; Liuzza, Marco Tullio; Pepino, Marta Y; Schöpf, Veronika; Pereda-Loth, Veronica; Olsson, Shannon B; Gerkin, Richard C; Rohlfs Domínguez, Paloma; Albayay, Javier; Farruggia, Michael C; Bhutani, Surabhi; Fjaeldstad, Alexander W; Kumar, Ritesh; Menini, Anna; Bensafi, Moustafa; Sandell, Mari; Konstantinidis, Iordanis; Di Pizio, Antonella; Genovese, Federica; Öztürk, Lina; Thomas-Danguin, Thierry; Frasnelli, Johannes; Boesveldt, Sanne; Saatci, Özlem; Saraiva, Luis R; Lin, Cailu; Golebiowski, Jérôme; Hwang, Liang-Dar; Ozdener, Mehmet Hakan; Guàrdia, Maria Dolors; Laudamiel, Christophe; Ritchie, Marina; Havlícek, Jan; Pierron, Denis; Roura, Eugeni; Navarro, Marta; Nolden, Alissa A; Lim, Juyun; Whitcroft, Katherine L; Colquitt, Lauren R; Ferdenzi, Camille; Brindha, Evelyn V; Altundag, Aytug; Macchi, Alberto; Nunez-Parra, Alexia; Patel, Zara M; Fiorucci, Sébastien; Philpott, Carl M; Smith, Barry C; Lundström, Johan N; Mucignat, Carla; Parker, Jane K; van den Brink, Mirjam; Schmuker, Michael; Fischmeister, Florian Ph S; Heinbockel, Thomas; Shields, Vonnie D C; Faraji, Farhoud; Santamaría, Enrique; Fredborg, William E A; Morini, Gabriella; Olofsson, Jonas K; Jalessi, Maryam; Karni, Noam; D’Errico, Anna; Alizadeh, Rafieh; Pellegrino, Robert; Meyer, Pablo; Huart, Caroline; Chen, Ben; Soler, Graciela M; Alwashahi, Mohammed K; Welge-Lüssen, Antje; Freiherr, Jessica; de Groot, Jasper H B; Klein, Hadar; Okamoto, Masako; Singh, Preet Bano; Hsieh, Julien W; Abdulrahman, Olagunju; Dalton, Pamela; Yan, Carol H; Voznessenskaya, Vera V; Chen, Jingguo; Sell, Elizabeth A; Walsh-Messinger, Julie; Archer, Nicholas S; Koyama, Sachiko; Deary, Vincent; Roberts, S Craig; Yanık, Hüseyin; Albayrak, Samet; Nováková, Lenka Martinec; Croijmans, Ilja; Mazal, Patricia Portillo; Moein, Shima T; Margulis, Eitan; Mignot, Coralie; Mariño, Sajidxa; Georgiev, Dejan; Kaushik, Pavan K; Malnic, Bettina; Wang, Hong; Seyed-Allaei, Shima; Yoluk, Nur; Razzaghi-Asl, Sara; Justice, Jeb M; Restrepo, Diego; Abdulrahman, Olagunju; Dalton, Pamela; Yan, Carol H; Voznessenskaya, Vera V; Chen, Jingguo; Sell, Elizabeth A; Walsh-Messinger, Julie; Archer, Nicholas S; Koyama, Sachiko; Deary, Vincent; Roberts, S Craig; Yanık, Hüseyin; Albayrak, Samet; Nováková, Lenka Martinec; Croijmans, Ilja; Mazal, Patricia Portillo; Moein, Shima T; Margulis, Eitan; Mignot, Coralie; Mariño, Sajidxa; Georgiev, Dejan; Kaushik, Pavan K; Malnic, Bettina; Wang, Hong; Seyed-Allaei, Shima; Yoluk, Nur; Razzaghi-Asl, Sara; Justice, Jeb M; Restrepo, Diego; Reed, Danielle R; Hummel, Thomas; Munger, Steven D; Hayes, John E;pmc: PMC7323242 , PMC7337664 , PMC8689756
Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation and initial results of a multi-lingual, international questionnaire to assess self-reported quantity and quality of perception in three distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, 8 other, ages 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7 ± 28.7, mean ± SD), taste (-69.0 ± 32.6), and chemesthetic (-37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell, but also affects taste and chemesthesis. The multimodal impact of COVID-19 and lack of perceived nasal obstruction suggest that SARS-CoV-2 infection may disrupt sensory-neural mechanisms. Contains fulltext : 221636.pdf (Publisher’s version ) (Open Access) 14 p.
NARCIS arrow_drop_down Research@WUR; Recolector de Ciencia Abierta, RECOLECTA; SISSA Digital Library; Chemical Senses; Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) - Universidade de São Paulo (USP)Other literature type . Article . 2020License: OUP Standard Publication ReuseHELDA - Digital Repository of the University of HelsinkiArticle . 2020Data sources: HELDA - Digital Repository of the University of HelsinkiNARCIS; Chemical SensesArticle . 2020eScholarship - University of CaliforniaArticle . 2020Data sources: eScholarship - University of CaliforniaBiruni University Institutional RepositoryArticle . 2022License: CC BY NC NDData sources: Biruni University Institutional RepositoryHAL-Inserm; Mémoires en Sciences de l'Information et de la Communication; Hal-DiderotArticle . 2020License: CC BY NC NDadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1101/2020.05.04.20090902&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu382 citations 382 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 20visibility views 20 download downloads 79 Powered bymore_vert NARCIS arrow_drop_down Research@WUR; Recolector de Ciencia Abierta, RECOLECTA; SISSA Digital Library; Chemical Senses; Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) - Universidade de São Paulo (USP)Other literature type . Article . 2020License: OUP Standard Publication ReuseHELDA - Digital Repository of the University of HelsinkiArticle . 2020Data sources: HELDA - Digital Repository of the University of HelsinkiNARCIS; Chemical SensesArticle . 2020eScholarship - University of CaliforniaArticle . 2020Data sources: eScholarship - University of CaliforniaBiruni University Institutional RepositoryArticle . 2022License: CC BY NC NDData sources: Biruni University Institutional RepositoryHAL-Inserm; Mémoires en Sciences de l'Information et de la Communication; Hal-DiderotArticle . 2020License: CC BY NC NDadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1101/2020.05.04.20090902&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2013 United States, Germany EnglishPublic Library of Science (PLoS) NIH | EID - Effects of avian mi..., NSF | EID: Effects of Deforesta..., NIH | NIH Directors Pioneer Awa...NIH| EID - Effects of avian migration &anthropogenic change on the distribution &tra ,NSF| EID: Effects of Deforestation on the Prevalence of Blood-Borne Pathogens in African Rainforest Birds. ,NIH| NIH Directors Pioneer AwardAuthors: Thomassen, Henri A; Fuller, Trevon; Asefi-Najafabady, Salvi; Shiplacoff, Julia AG; +18 AuthorsThomassen, Henri A; Fuller, Trevon; Asefi-Najafabady, Salvi; Shiplacoff, Julia AG; Mulembakani, Prime M; Blumberg, Seth; Johnston, Sara C; Kisalu, Neville K; Kinkela, Timothée L; Fair, Joseph N; Wolfe, Nathan D; Shongo, Robert L; LeBreton, Matthew; Meyer, Hermann; Wright, Linda L; Muyembe, Jean-Jacques; Buermann, Wolfgang; Okitolonda, Emile; Hensley, Lisa E; Lloyd-Smith, James O; Smith, Thomas B; Rimoin, Anne W;pmc: PMC3729955
pmid: 23935820
Climate change is predicted to result in changes in the geographic ranges and local prevalence of infectious diseases, either through direct effects on the pathogen, or indirectly through range shifts in vector and reservoir species. To better understand the occurrence of monkeypox virus (MPXV), an emerging Orthopoxvirus in humans, under contemporary and future climate conditions, we used ecological niche modeling techniques in conjunction with climate and remote-sensing variables. We first created spatially explicit probability distributions of its candidate reservoir species in Africa's Congo Basin. Reservoir species distributions were subsequently used to model current and projected future distributions of human monkeypox (MPX). Results indicate that forest clearing and climate are significant driving factors of the transmission of MPX from wildlife to humans under current climate conditions. Models under contemporary climate conditions performed well, as indicated by high values for the area under the receiver operator curve (AUC), and tests on spatially randomly and non-randomly omitted test data. Future projections were made on IPCC 4(th) Assessment climate change scenarios for 2050 and 2080, ranging from more conservative to more aggressive, and representing the potential variation within which range shifts can be expected to occur. Future projections showed range shifts into regions where MPX has not been recorded previously. Increased suitability for MPX was predicted in eastern Democratic Republic of Congo. Models developed here are useful for identifying areas where environmental conditions may become more suitable for human MPX; targeting candidate reservoir species for future screening efforts; and prioritizing regions for future MPX surveillance efforts.
Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=PMC3729955&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu16 citations 16 popularity Top 10% influence Top 10% impulse Average Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=PMC3729955&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 United States, ItalyAmerican Society for Microbiology Anthony S. Amend; Gaëtan Burgaud; Michael Cunliffe; Virginia P. Edgcomb; Cassandra L. Ettinger; M. H. Gutiérrez; Joseph Heitman; Erik F. Y. Hom; Giuseppe Ianiri; Adam C. Jones; Maiko Kagami; Kathryn T. Picard; C. Alisha Quandt; Seshagiri Raghukumar; Mertixell Riquelme; Jason E. Stajich; José M. Vargas-Muñiz; Allison K. Walker; Oded Yarden; Amy S. Gladfelter;ABSTRACT Terrestrial fungi play critical roles in nutrient cycling and food webs and can shape macroorganism communities as parasites and mutualists. Although estimates for the number of fungal species on the planet range from 1.5 to over 5 million, likely fewer than 10% of fungi have been identified so far. To date, a relatively small percentage of described species are associated with marine environments, with ∼1,100 species retrieved exclusively from the marine environment. Nevertheless, fungi have been found in nearly every marine habitat explored, from the surface of the ocean to kilometers below ocean sediments. Fungi are hypothesized to contribute to phytoplankton population cycles and the biological carbon pump and are active in the chemistry of marine sediments. Many fungi have been identified as commensals or pathogens of marine animals (e.g., corals and sponges), plants, and algae. Despite their varied roles, remarkably little is known about the diversity of this major branch of eukaryotic life in marine ecosystems or their ecological functions. This perspective emerges from a Marine Fungi Workshop held in May 2018 at the Marine Biological Laboratory in Woods Hole, MA. We present the state of knowledge as well as the multitude of open questions regarding the diversity and function of fungi in the marine biosphere and geochemical cycles. Terrestrial fungi play critical roles in nutrient cycling and food webs and can shape macroorganism communities as parasites and mutualists. Although estimates for the number of fungal species on the planet range from 1.5 to over 5 million, likely fewer than 10% of fungi have been identified so far.
Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1128/mbio.01189-18&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu148 citations 148 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1128/mbio.01189-18&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2017 Italy, Italy, Germany, United Kingdom, United Kingdom, Netherlands, United Kingdom, Denmark, Croatia, Denmark, United Kingdom, Denmark, United Kingdom, Italy, United StatesSpringer Science and Business Media LLC UKRI | Automated manufacturing c..., EC | ePerMed, EC | GLUCOSEGENES +2 projectsUKRI| Automated manufacturing cost estimator and supply chain management portal ,EC| ePerMed ,EC| GLUCOSEGENES ,WT ,NWO| North Sea Reef Vitalization For Ecosystem Services (North Sea ReViFES)Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina; Lo, Ken Sin; Wood, Andrew R; Kjaer, Troels R; Fine, Rebecca S; Lu, Yingchang; Schurmann, Claudia; Highland, Heather M; Rueger, Sina; Thorleifsson, Gudmar; Justice, Anne E; Lamparter, David; Stirrups, Kathleen E; Turcot, Valerie; Young, Kristin L; Winkler, Thomas W; Esko, Tonu; Karaderi, Tugce; Locke, Adam E; Masca, Nicholas GD; Ng, Maggie CY; Mudgal, Poorva; Rivas, Manuel A; Vedantam, Sailaja; Mahajan, Anubha; Guo, Xiuqing; Abecasis, Goncalo; Aben, Katja K; Adair, Linda S; Alam, Dewan S; Albrecht, Eva; Allin, Kristine H; Allison, Matthew; Amouyel, Philippe; Appel, Emil V; Arveiler, Dominique; Asselbergs, Folkert W; Auer, Paul L; Balkau, Beverley; Banas, Bernhard; Bang, Lia E; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F; Blueher, Matthias; Boeing, Heiner; Boerwinkle, Eric; Boeger, Carsten A; Bonnycastle, Lori L; Bork-Jensen, Jette; Bots, Michiel L; Bottinger, Erwin P; Bowden, Donald W; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H; Broer, Linda; Burt, Amber A; Butterworth, Adam S; Carey, David J; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y; Cocca, Massimiliano; Collins, Francis S; Cook, James P; Corley, Janie; Galbany, Jordi Corominas; Cox, Amanda J; Cuellar-Partida, Gabriel; Danesh, John; Davies, Gail; de Bakker, Paul IW; de Borst, Gert J; de Denus, Simon; de Groot, Mark CH; de Mutsert, Renee; Deary, Ian J; Dedoussis, George; Demerath, Ellen W; den Hollander, Anneke I; Dennis, Joe G; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dunning, Alison M; Easton, Douglas F; Ebeling, Tapani; Edwards, Todd L; Ellinor, Patrick T; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Faul, Jessica D; Feitosa, Mary F; Feng, Shuang; Ferrannini, Ele; Ferrario, Marco M; Ferrieres, Jean; Florez, Jose C; Ford, Ian; Fornage, Myriam; Franks, Paul W; Frikke-Schmidt, Ruth; Galesloot, Tessel E; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Giri, Ayush; Girotto, Giorgia; Gordon, Scott D; Gordon-Larsen, Penny; Gorski, Mathias; Grarup, Niels; Grove, Megan L; Gudnason, Vilmundur; Gustafsson, Stefan; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B; Hattersley, Andrew T; Hayward, Caroline; He, Liang; Heid, Iris M; Heikkila, Kauko; Helgeland, Oyvind; Hernesniemi, Jussi; Hewitt, Alex W; Hocking, Lynne J; Hollensted, Mette; Holmen, Oddgeir L; Hovingh, G Kees; Howson, Joanna MM; Hoyng, Carel B; Huang, Paul L; Hveem, Kristian; Ikram, M Arfan; Ingelsson, Erik; Jackson, Anne U; Jansson, Jan-Hakan; Jarvik, Gail P; Jensen, Gorm B; Jhun, Min A; Jia, Yucheng; Jiang, Xuejuan; Johansson, Stefan; Jorgensen, Marit E; Jorgensen, Torben; Jousilahti, Pekka; Jukema, J Wouter; Kahali, Bratati; Kahn, Rene S; Kahonen, Mika; Kamstrup, Pia R; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon LR; Karpe, Fredrik; Kee, Frank; Keeman, Renske; Kiemeney, Lambertus A; Kitajima, Hidetoshi; Kluivers, Kirsten B; Kocher, Thomas; Komulainen, Pirjo; Kontto, Jukka; Kooner, Jaspal S; Kooperberg, Charles; Kovacs, Peter; Kriebel, Jennifer; Kuivaniemi, Helena; Kury, Sebastien; Kuusisto, Johanna; La Bianca, Martina; Laakso, Markku; Lakka, Timo A; Lange, Ethan M; Lange, Leslie A; Langefeld, Carl D; Langenberg, Claudia; Larson, Eric B; Lee, I-Te; Lehtimaki, Terho; Lewis, Cora E; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Li-An; Lin, Xu; Lind, Lars; Lindstrom, Jaana; Linneberg, Allan; Mackey, David A; Marenne, Gaelle; Marten, Jonathan; Mazul, Angela L; Packard, Chris J; Padmanabhan, Sandosh; Palmer, Colin NA; Patel, Aniruddh P; Pedersen, Oluf; Pennell, Craig E; Polasek, Ozren; Posthuma, Danielle; Rioux, John D; Robino, Antonietta; Rudan, Igor; Sapkota, Yadav; Sattar, Naveed; Schmidt, Marjanka K; Schreiner, Pamela J; Schulze, Matthias B; Sim, Xueling; Small, Kerrin S; Smith, Albert Vernon; Smith, Jennifer A; Steinthorsdottir, Valgerdur; Stumvoll, Michael; 't Hart, Leen M; Tansey, Katherine E; Teumer, Alexander; Thuesen, Betina H; Tromp, Gerard; Trompet, Stella; Uher, Rudolf; Uitterlinden, Andre G; van der Laan, Sander W; van Duijn, Cornelia M; van Schoor, Natasja M; Varga, Tibor V; Vermeulen, Sita H; Vestergaard, Henrik; Vitart, Veronique; Wang, Carol A; Wang, Yiqin; Wessel, Jennifer; Witte, Daniel R; Yaghootkar, Hanieh; Young, Robin; Zhao, Wei; McCarthy, Mark I; Liu, Dajiang J; Heard-Costa, Nancy L; Pers, Tune H; Lindgren, Cecilia M; Oxvig, Claus; Loos, Ruth JF; Frayling, Timothy M; Deloukas, Panos;pmc: PMC5302847
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways. Contains fulltext : 169801.pdf (Publisher’s version ) (Closed access)
Nature; METIS Resear... arrow_drop_down Nature; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017License: Springer TDMData sources: European Union Open Data Portal; Erasmus University Rotterdam - Research Information Portal; Vrije Universiteit Amsterdam (VU Amsterdam) - Institutional Repository; Sygma; Crossref; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIVBN; Aalborg University Research PortalArticle . 2017Oxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveThe University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositoryNARCIS; Utrecht University RepositoryArticle . 2017eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of CaliforniaUniversity of Southern Denmark Research OutputArticle . 2017Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryPublication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1038/nature21039&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu529 citations 529 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 28visibility views 28 download downloads 306 Powered bymore_vert Nature; METIS Resear... arrow_drop_down Nature; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017License: Springer TDMData sources: European Union Open Data Portal; Erasmus University Rotterdam - Research Information Portal; Vrije Universiteit Amsterdam (VU Amsterdam) - Institutional Repository; Sygma; Crossref; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIVBN; Aalborg University Research PortalArticle . 2017Oxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveThe University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositoryNARCIS; Utrecht University RepositoryArticle . 2017eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of CaliforniaUniversity of Southern Denmark Research OutputArticle . 2017Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryPublication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1038/nature21039&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu
Loading
description Publicationkeyboard_double_arrow_right Article , Other literature type 2018 Netherlands, Italy, United Kingdom, United StatesElsevier BV Tripathy, R; Leca, I; Van Dijk, T; Weiss, J; Van Bon, B; Sergaki, M; Gstrein, T; Breuss, M; Tian, G; Bahi-Buisson, N; Paciorkowski, A; Pagnamenta, A; Wenninger-Weinzierl, A; Martinez-Reza, M; Landler, L; Lise, S; Taylor, J; Terrone, G; Vitiello, G; Del Giudice, E; Brunetti-Pierri, N; D'Amico, A; Reymond, A; Voisin, N; Bernstein, J; Farrelly, E; Kini, U; Leonard, T; Valence, S; Burglen, L; Armstrong, L; Hiatt, S; Cooper, G; Aldinger, K; Dobyns, W; Mirzaa, G; Pierson, T; Baas, F; Chelly, J; Cowan, N; Keays, D;Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCC-CH-CM) in the absence of megalencephaly. We show that MAST1 is a microtubule associated protein, that is predominantly expressed in post-mitotic neurons, and is present in both dendritic and axonal compartments. We further show that Mast1 null animals are phenotypically normal, whereas the deletion of a single amino acid (L278del) recapitulates the distinct neurological phenotype observed in patients. In animals harboring Mast1 microdeletions we find that the PI3K/AKT3/mTOR pathway is unperturbed, whereas Mast2 and Mast3 levels are diminished, indicative of a dominant negative mode of action. Finally, we report that de novo MAST1 substitutions are present in patients with autism and microcephaly, raising the prospect that mutations in this gene give rise to a spectrum of neurodevelopmental diseases.
Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.neuron.2018.10.044&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu36 citations 36 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!visibility 21visibility views 21 download downloads 9 Powered bymore_vert Neuron arrow_drop_down Oxford University Research ArchiveOther literature type . 2019Data sources: Oxford University Research ArchiveeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaNeuron; METIS Research Information System; NARCIS; Archivio della ricerca - Università degli studi di Napoli Federico IIArticle . 2018License: Elsevier Non-Commercialadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1016/j.neuron.2018.10.044&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type , Report , Preprint 2018 Argentina, France, Italy, Poland, Italy, United Kingdom, United Kingdom, Switzerland, Germany, Italy, Italy, Norway, Turkey, Netherlands, Italy, Italy, Netherlands, Netherlands, Spain, United States, Italy, Portugal, Switzerland, Italy, Turkey, Turkey, United Kingdom, Spain, Netherlands, Italy, Netherlands, Portugal, Denmark, Italy, ItalySpringer Science and Business Media LLC Aaboud, M; Aad, G; Abbott, B; Abdinov, O; Abeloos, B; Abhayasinghe, DK; Abidi, SH; AbouZeid, OS; Abraham, NL; Abramowicz, H; Abreu, H; Abulaiti, Y; Acharya, BS; Adachi, S; Adamczyk, L; Adelman, J; Adersberger, M; Adiguzel, A; Adye, T; Affolder, AA; Afik, Y; Agheorghiesei, C; Aguilar-Saavedra, JA; Ahmadov, F; Aielli, G; Akatsuka, S; Akesson, TPA; Akilli, E; Akimov, AV; Alberghi, GL; Albert, J; Albicocco, P; Alconada Verzini, MJ; Alderweireldt, S; Aleksa, M; Aleksandrov, IN; Alexa, C; Alexopoulos, T; Alhroob, M; Ali, B; Alimonti, G; Alison, J; Alkire, SP; Allaire, C; Allbrooke, BMM; Allen, BW; Allport, PP; Aloisio, A; Alonso, A; Alonso, F; Alpigiani, C; Alshehri, AA; Alstaty, MI; Alvarez Gonzalez, B; Alvarez Piqueras, D; Alviggi, MG; Amadio, BT; Amaral Coutinho, Y; Ambroz, L; Amelung, C; Amidei, D; Amor Dos Santos, SP; Amoroso, S; Amrouche, CS; Anastopoulos, C; Ancu, LS; Andari, N; Andeen, T; Anders, CF; Anders, JK; Anderson, KJ; Andreazza, A; Andrei, V; Anelli, CR; Angelidakis, S; Angelozzi, I; Angerami, A; Anisenkov, AV; Annovi, A; Antel, C; Anthony, MT; Antonelli, M; Antrim, DJA; Anulli, F; Aoki, M; Aparisi Pozo, JA; Bella, L Aperio; Arabidze, G; Araque, JP; Araujo Ferraz, V; Araujo Pereira, R; Arce, ATH; Ardell, RE; Arduh, FA; Arguin, J-F; Argyropoulos, S; Armbruster, AJ; Armitage, LJ; Armstrong, A; Arnaez, O; Arnold, H; Arratia, M; Arslan, O; Artamonov, A; Artoni, G; Artz, S; Asai, S; Asbah, N; Ashkenazi, A; Asimakopoulou, EM; Asquith, L; Assamagan, K; Astalos, R; Atkin, RJ; Atkinson, M; Atlay, NB; Augsten, K; Avolio, G; Avramidou, R; Ayoub, MK; Azuelos, G; Baas, AE; Baca, MJ; Bachacou, H; Bachas, K; Backes, M; Bagnaia, P; Bahmani, M; Bahrasemani, H; Bailey, AJ; Baines, JT; Bajic, M; Bakalis, C; Baker, OK; Bakker, PJ; Gupta, D Bakshi; Baldin, EM; Balek, P; Balli, F; Balunas, WK; Balz, J; Banas, E; Bandyopadhyay, A; Banerjee, S; Bannoura, AAE; Barak, L; Barbe, WM; Barberio, EL; Barberis, D; Barbero, M; Barillari, T; Barisits, M-S; Barkeloo, J; Barklow, T; Barlow, N; Barnea, R; Barnes, SL; Barnett, BM; Barnett, RM; Barnovska-Blenessy, Z; Baroncelli, A; Barone, G; Barr, AJ; Barranco Navarro, L; Barreiro, F; da Costa, J Barreiro Guimaraes; Bartoldus, R; Barton, AE; Bartos, P; Basalaev, A; Bassalat, A; Bates, RL; Batista, SJ; Batlamous, S; Batley, JR; Battaglia, M; Bauce, M; Bauer, F; Bauer, KT; Bawa, HS; Beacham, JB; Beattie, MD; Beau, T; Beauchemin, PH; Bechtle, P; Beck, HC; Beck, HP; Becker, K; Becker, M; Becot, C; Beddall, A; Beddall, AJ; Bednyakov, VA; Bedognetti, M; Bee, CP; Beermann, TA; Begalli, M; Begel, M; Behera, A; Behr, JK; Benitez, J; Carminati, L; D'Auria, S; Dell'Asta, L; Di Donato, C; Fanti, M; Iuppa, R; Lazzaroni, M; Meroni, C; Parodi, F; Perini, L; Ragusa, F; Schiavi, C; Sforza, F; Stabile, A;doi: 10.1140/epjc/s10052-018-6288-9 , 10.7892/boris.129068 , 10.3204/pubdb-2018-04578 , 10.48550/arxiv.1802.08168
handle: 1956/20621 , 1822/57544 , 11587/426657 , 10400.26/27585 , 11590/346918 , 20.500.11851/3591 , 10481/64507 , 20.500.11770/306490 , 2066/199394 , 11245.1/b8413f25-b2d3-4005-9273-34c1b8841556 , 20.500.11820/17439937-7ed2-4bb7-88b4-f49a68e7205c , 11367/72113 , 11336/118067 , 11572/318609 , https://repository.ubn.ru.nl/handle/2066/199394 , 11567/1113599 , 2434/671596
doi: 10.1140/epjc/s10052-018-6288-9 , 10.7892/boris.129068 , 10.3204/pubdb-2018-04578 , 10.48550/arxiv.1802.08168
handle: 1956/20621 , 1822/57544 , 11587/426657 , 10400.26/27585 , 11590/346918 , 20.500.11851/3591 , 10481/64507 , 20.500.11770/306490 , 2066/199394 , 11245.1/b8413f25-b2d3-4005-9273-34c1b8841556 , 20.500.11820/17439937-7ed2-4bb7-88b4-f49a68e7205c , 11367/72113 , 11336/118067 , 11572/318609 , https://repository.ubn.ru.nl/handle/2066/199394 , 11567/1113599 , 2434/671596
The performance of the missing transverse (E-T(miss) momentum) reconstruction with the ATLAS detector is evaluated using data collected in proton-proton collisions at the LHC at a centre-of-mass energy of 13 TeV in 2015. To reconstruct E-T(miss), fully calibrated electrons, muons, photons, hadronically decaying tau-leptons, and jets reconstructed from calorimeter energy deposits and charged-particle tracks are used. These are combined with the soft hadronic activity measured by reconstructed charged-particle tracks not associated with the hard objects. Possible double counting of contributions from reconstructed charged-particle tracks from the inner detector, energy deposits in the calorimeter, and reconstructed muons from the muon spectrometer is avoided by applying a signal ambiguity resolution procedure which rejects already used signals when combining the various E-T(miss) contributions. The individual terms as well as the overall reconstructed E-T(miss) are evaluated with various performance metrics for scale (linearity), resolution, and sensitivity to the data-taking conditions. The method developed to determine the systematic uncertainties of the E-T(miss) scale and resolution is discussed. Results are shown based on the full 2015 data sample corresponding to an integrated luminosity of 3.2 fb(-1). Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Japan Society for the Promotion of Science Australian Government Department of Industry, Innovation and Science Cooperative Research Centres (CRC) Programme National Science Foundation (NSF) NSF - Directorate for Mathematical & Physical Sciences (MPS) 1624739 Ministry of Education, Youth & Sports - Czech Republic Czech Republic Government Netherlands Organization for Scientific Research (NWO) Netherlands Government Ministry of Education, Culture, Sports, Science and Technology, Japan (MEXT) Departamento Administrativo de Ciencia, Tecnologia e Innovacion Colciencias Comision Nacional de Investigacion Cientifica y Tecnologica (CONICYT) National Council for Scientific and Technological Development (CNPq) Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) Natural Sciences and Engineering Research Council of Canada European Union (EU) European Research Council (ERC) National Natural Science Foundation of China (NSFC) Ministry of Science and Higher Education, Poland Portuguese Foundation for Science and Technology Ministry of Energy & Natural Resources - Turkey Federal Ministry of Education & Research (BMBF) Science & Technology Facilities Council (STFC) Azerbaijan National Academy of Sciences (ANAS) Istituto Nazionale di Fisica Nucleare (INFN) Ministry of Science and Technology, Taiwan Ministry of Science and Technology, China CERCA Programme Generalitat de Catalunya United States Department of Energy (DOE) Danish Natural Science Research Council US-Israel Binational Science Foundation Swiss National Science Foundation (SNSF French National Research Agency (ANR) Fondation Partager le Savoir, France Slovenian Research Agency - Slovenia Greek Ministry of Development-GSRT Hong Kong Research Grants Council National Science Foundation (NSF) German Research Foundation (DFG) Canada Foundation for Innovation Ontario Innovation Trust, Canada Japanese Urological Association Wallenberg Foundation, Sweden Horizon 2020, European Union Australian Research Council Austrian Science Fund (FWF) Chinese Academy of Sciences NRC KI, Russian Federation Czech Republic Government Royal Society of London Benoziyo Center, Israel Generalitat Valenciana Canton of Switzerland DST/NRF, South Africa CEA-DRF/IRFU, France European Union (EU) IN2P9-CNRS, France Max Planck Society Canton of Geneva Leverhulme Trust MNE/IFA, Romania Minerva, Israel YerPhI, Armenia MSSR, Slovakia BMWFW, Austria CNRST, Morocco I-CORE, Israel Compute Canada MIZS, Slovenia Canada Council DNRF, Denmark MESTD, Serbia SSTC, Belarus IIGF, Germany MINECO, Spain MES of Russia ISF, Isreael RCN, Norway NCN, Poland NRC, Canada CERN, Chile BRF, Norway CANARIE ANPCyT FQRNT BCKDF SERI JINR
Archivio della ricer... arrow_drop_down Archivio della ricerca - Università degli studi di Napoli "Parthenope"; METIS Research Information System; European Physical Journal C: Particles and Fields; TOBB ETU GCRIS Database; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOther literature type . Article . 2018License: CC BYData sources: Archivio della ricerca - Università degli studi di Napoli "Parthenope"; Crossref; METIS Research Information System; TOBB ETU GCRIS Database; NARCIS; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOxford University Research ArchiveOther literature type . 2019License: CC BYData sources: Oxford University Research ArchiveLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2018Recolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2018License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTABern Open Repository and Information System (BORIS)Article . 2018Data sources: Bern Open Repository and Information System (BORIS)Copenhagen University Research Information SystemArticle . 2018Data sources: Copenhagen University Research Information SystemArchivio della Ricerca - Università di PisaArticle . 2018Data sources: Archivio della Ricerca - Università di PisaRecolector de Ciencia Abierta, RECOLECTA; Repositorio Institucional Universidad de GranadaOther literature type . Article . 2020 . 2018License: CC BYeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaThe University of Manchester - Institutional RepositoryArticle . 2018Data sources: The University of Manchester - Institutional RepositoryBergen Open Research Archive - UiBArticle . 2018License: CC BYData sources: Bergen Open Research Archive - UiBArchivio della Ricerca - Università di Roma Tor vergataArticle . 2018Data sources: Archivio della Ricerca - Università di Roma Tor vergataHAL - UPEC / UPEM; HAL-Pasteur; HAL-Inserm; Hal-DiderotArticle . 2018Archivio Istituzionale dell'Università della CalabriaArticle . 2018Data sources: Archivio Istituzionale dell'Università della Calabriaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1140/epjc/s10052-018-6288-9&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu178 citations 178 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 25visibility views 25 download downloads 144 Powered bymore_vert Archivio della ricer... arrow_drop_down Archivio della ricerca - Università degli studi di Napoli "Parthenope"; METIS Research Information System; European Physical Journal C: Particles and Fields; TOBB ETU GCRIS Database; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOther literature type . Article . 2018License: CC BYData sources: Archivio della ricerca - Università degli studi di Napoli "Parthenope"; Crossref; METIS Research Information System; TOBB ETU GCRIS Database; NARCIS; Archivio Istituzionale della Ricerca dell'Università degli Studi di Milano; Archivio della Ricerca - Università di Roma Tor vergataOxford University Research ArchiveOther literature type . 2019License: CC BYData sources: Oxford University Research ArchiveLAReferencia - Red Federada de Repositorios Institucionales de Publicaciones Científicas Latinoamericanas; Universidade do Minho: RepositoriUMOther literature type . Article . 2018Recolector de Ciencia Abierta, RECOLECTA; Dipòsit Digital de Documents de la UABArticle . 2018License: CC BYRecolector de Ciencia Abierta, RECOLECTAArticleData sources: Recolector de Ciencia Abierta, RECOLECTABern Open Repository and Information System (BORIS)Article . 2018Data sources: Bern Open Repository and Information System (BORIS)Copenhagen University Research Information SystemArticle . 2018Data sources: Copenhagen University Research Information SystemArchivio della Ricerca - Università di PisaArticle . 2018Data sources: Archivio della Ricerca - Università di PisaRecolector de Ciencia Abierta, RECOLECTA; Repositorio Institucional Universidad de GranadaOther literature type . Article . 2020 . 2018License: CC BYeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaThe University of Manchester - Institutional RepositoryArticle . 2018Data sources: The University of Manchester - Institutional RepositoryBergen Open Research Archive - UiBArticle . 2018License: CC BYData sources: Bergen Open Research Archive - UiBArchivio della Ricerca - Università di Roma Tor vergataArticle . 2018Data sources: Archivio della Ricerca - Università di Roma Tor vergataHAL - UPEC / UPEM; HAL-Pasteur; HAL-Inserm; Hal-DiderotArticle . 2018Archivio Istituzionale dell'Università della CalabriaArticle . 2018Data sources: Archivio Istituzionale dell'Università della Calabriaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1140/epjc/s10052-018-6288-9&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2014 United Kingdom, Germany, Netherlands, Ireland, United States, United KingdomOxford University Press (OUP) NIH | DIET, HORMONES AND RISK O..., AKA | Comprehensive analysis of..., NHMRC | Risk and prognostic facto... +29 projectsNIH| DIET, HORMONES AND RISK OF COLORECTAL CANCERS ,AKA| Comprehensive analysis of hereditary breast and ovarian cancer ,NHMRC| Risk and prognostic factors for breast cancer of different immunohistochemical subtypes ,NHMRC| Risk factors, screening, prophylaxis and outcomes in individuals from breast cancer families: kConFab Follow-Up Study ,NHMRC| Clinical Outcomes In Individuals With An Inherited Predisposition To Breast Cancer ,NIH| Cancer Risk Reduction and Diet: A Cohort Study of Women ,INCa ,NIH| SURVEILLANCE EPIDEMIOLOGY AND END RESULTS ,NHMRC| Epidemiology of Chronic Disease, Health Interventions and DNA Studies ,NIH| Breast Cancer Family Registry Cohort ,NIH| Discovery Expansion and Replication ,NIH| Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) ,NIH| Consortium Study to Identify Breast Cancer Susceptibility Loci ,NIH| A genome-wide association study for breast cancer in BRCA1 mutation carriers ,NIH| NORTHERN CALIFORNIA COOPERATIVE FAMILY REGISTRY ,EC| COGS ,NIH| Australian Breast Cancer Family Registry ,NHMRC| kConFab Follow-Up Project: A Prospective Study of Non-Genetic Risk Modifiers in Women at High Risk for Breast Cancer ,NIH| Shared Genomic Segment Analysis and Tumor Subtyping in High-Risk BrCa Pedigrees ,NIH| CALIFORNIA TEACHERS STUDY ,WT ,NIH| Ontario Familial Breast Cancer Registry ,CIHR ,NIH| Cohort Study of Genetic Susceptibility to Breast Cancer ,NIH| The Nashville Breast Health Study ,NIH| Elucidating Loci Involved in Prostate Cancer Suceptibility ,NIH| Cancer Center Support Grant ,NWO| BBMRI-NL ,NHMRC| Towards cancer control: Population and molecular strategies ,NIH| BIOCHEMICAL MARKERS IN THE NURSES HEALTH STUDY COHORT ,NIH| Southern Community Cohort Study ,AKA| Finnish Centre of Excellence in Cell-Extracellular Matrix ResearchLin, W.Y.; Camp, N.J.; Ghoussaini, M.; Beesley, J.; Michailidou, K.; Hopper, J.L.; Apicella, C.; Southey, M.C.; Stone, J.; Schmidt, M.K.; Broeks, A.; Van't Veer, L.J.; Rutgers, E.J.T.; Muir, K.; Lophatananon, A.; Stewart-Brown, S.; Siriwanarangsan, P.; Fasching, P.A.; Haeberle, L.; Ekici, A.B.; Beckmann, M.W.; Peto, J.; Dos-Santos-Silva, I.; Fletcher, O.; Johnson, N.; Bolla, M.K.; Wang, Q.; Dennis, J.; Sawyer, E.J.; Cheng, T.; Tomlinson, I.; Kerin, M.J.; Miller, N.; Marme, F.; Surowy, H.M.; Burwinkel, B.; Guenel, P.; Truong, T.; Menegaux, F.; Mulot, C.; Bojesen, S.E.; Nordestgaard, B.G.; Nielsen, S.F.; Flyger, H.; Benitez, J.; Zamora, M.P.; Perez, J.I.A.; Menendez, P.; Gonzalez-Neira, A.; Pita, G.; Alonso, M.R.; Alvarez, N.; Herrera, D.; Anton-Culver, H.; Brenner, H.; Dieffenbach, A.K.; Arndt, V.; Stegmaier, C.; Meindl, A.; Lichtner, P.; Schmutzler, R.K.; Muller-Myhsok, B.; Brauch, H.; Bruning, T.; Ko, Y.D.; Tessier, D.C.; Vincent, D.; Bacot, F.; Nevanlinna, H.; Aittomaki, K.; Blomqvist, C.; Khan, S.; Matsuo, K.; Ito, H.; Iwata, H.; Horio, A.; Bogdanova, N.V.; Antonenkova, N.N.; Dork, T.; Lindblom, A.; Margolin, S.; Mannermaa, A.; Kataja, V.; Kosma, V.M.; Hartikainen, J.M.; Wu, A.H.; Tseng, C.C.; Berg, D. van den; Stram, D.O.; Neven, P.; Wauters, E.; Wildiers, H.; Lambrechts, D.; Chang-Claude, J.; Rudolph, A.; Seibold, P.; Flesch-Janys, D.; Radice, P.; Peterlongo, P.; Manoukian, S.; Bonanni, B.; Couch, F.J.; Wang, X.S.; Vachon, C.; Purrington, K.; Giles, G.G.; Milne, R.L.; Mclean, C.; Haiman, C.A.; Henderson, B.E.; Schumacher, F.; Marchand, L. le; Simard, J.; Goldberg, M.S.; Labreche, F.; Dumont, M.; Teo, S.H.; Yip, C.H.; Hassan, N.; Vithana, E.N.; Kristensen, V.; Zheng, W.; Deming-Halverson, S.; Shrubsole, M.J.; Long, J.R.; Winqvist, R.; Pylkas, K.; Jukkola-Vuorinen, A.; Kauppila, S.; Andrulis, I.L.; Knight, J.A.; Glendon, G.; Tchatchou, S.; Devilee, P.; Tollenaar, R.A.E.M.; Seynaeve, C.; Asperen, C.J. van; Garcia-Closas, M.; Figueroa, J.; Lissowska, J.; Brinton, L.; Czene, K.; Darabi, H.; Eriksson, M.; Brand, J.S.; Hooning, M.J.; Hollestelle, A.; Ouweland, A.M.W. van den; Jager, A.; Li, J.M.; Liu, J.J.; Humphreys, K.; Shu, X.O.; Lu, W.; Gao, Y.T.; Cai, H.; Cross, S.S.; Reed, M.W.R.; Blot, W.; Signorello, L.B.; Cai, Q.Y.; Pharoah, P.D.P.; Perkins, B.; Shah, M.; Blows, F.M.; Kang, D.; Yoo, K.Y.; Noh, D.Y.; Hartman, M.; Miao, H.; Chia, K.S.; Putti, T.C.; Hamann, U.; Luccarini, C.; Baynes, C.; Ahmed, S.; Maranian, M.; Healey, C.S.; Jakubowska, A.; Lubinski, J.; Jaworska-Bieniek, K.; Durda, K.; Sangrajrang, S.; Gaborieau, V.; Brennan, P.; Mckay, J.; Slager, S.; Toland, A.E.; Yannoukakos, D.; Shen, C.Y.; Hsiung, C.N.; Wu, P.E.; Ding, S.L.; Ashworth, A.; Jones, M.; Orr, N.; Swerdlow, A.J.; Tsimiklis, H.; Makalic, E.; Schmidt, D.F.;doi: 10.1093/hmg/ddu431
pmc: PMC4334820
pmid: 25168388
handle: 1887/106773 , 1874/331500 , 20.500.12530/40754 , 1765/91217
doi: 10.1093/hmg/ddu431
pmc: PMC4334820
pmid: 25168388
handle: 1887/106773 , 1874/331500 , 20.500.12530/40754 , 1765/91217
Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Access to Research a... arrow_drop_down Human Molecular Genetics; Oxford University Research ArchiveOther literature type . Article . 2015 . 2014 . 2016eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/hmg/ddu431&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu46 citations 46 popularity Top 10% influence Top 10% impulse Top 10% Powered by BIP!visibility 5visibility views 5 download downloads 55 Powered bymore_vert Access to Research a... arrow_drop_down Human Molecular Genetics; Oxford University Research ArchiveOther literature type . Article . 2015 . 2014 . 2016eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaRecolector de Ciencia Abierta, RECOLECTAArticle . 2015Data sources: Recolector de Ciencia Abierta, RECOLECTALUMC Scholarly Publications; NARCISOther literature type . Article . 2015add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/hmg/ddu431&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2018 Norway, United StatesOxford University Press (OUP) IRC, NSF | Collaborative Research: L..., EC | CODEX +1 projectsIRC ,NSF| Collaborative Research: Land Bridges, Ice-Free Corridors, and Biome Shifts: Impacts on the Evolution and Extinction of Horses in Ice-Age Beringia ,EC| CODEX ,Irish Research Council for Science, Engineering and TechnologyJames A. Cahill; Peter D. Heintzman; Kelley Harris; Matthew D. Teasdale; Joshua D. Kapp; André E. R. Soares; Ian Stirling; Daniel G. Bradley; Ceiridwen J. Edwards; Kiley Graim; Aliaksandr A. Kisleika; Alexander V. Malev; Nigel T. Monaghan; Richard E. Green; Beth Shapiro;pmid: 29471451
This article has been accepted for publication in Molecular Biology and Evolution. Published by Oxford University Press. Submitted manuscript version. Published version available at https://doi.org/10.1093/molbev/msy018. Recent genomic analyses have provided substantial evidence for past periods of gene flow from polar bears (Ursus maritimus) into Alaskan brown bears (Ursus arctos), with some analyses suggesting a link between climate change and genomic introgression. However, because it has mainly been possible to sample bears from the present day, the timing, frequency, and evolutionary significance of this admixture remains unknown. Here, we analyze genomic DNA from three additional and geographically distinct brown bear populations, including two that lived temporally close to the peak of the last ice age. We find evidence of admixture in all three populations, suggesting that admixture between these species has been common in their recent evolutionary history. In addition, analyses of ten fossil bears from the now-extinct Irish population indicate that admixture peaked during the last ice age, whereas brown bear and polar bear ranges overlapped. Following this peak, the proportion of polar bear ancestry in Irish brown bears declined rapidly until their extinction. Our results support a model in which ice age climate change created geographically widespread conditions conducive to admixture between polar bears and brown bears, as is again occurring today. We postulate that this model will be informative for many admixing species pairs impacted by climate change. Our results highlight the power of paleogenomics to reveal patterns of evolutionary change that are otherwise masked in contemporary data.
CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/molbev/msy018&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu79 citations 79 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 37visibility views 37 download downloads 92 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down eScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2018Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1093/molbev/msy018&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2015 Finland, Belgium, United States, Netherlands, United KingdomPublic Library of Science (PLoS) NIH | Mayo Clinic SPORE in Ovar..., NIH | Genetic Epidemiology of O..., NIH | Risk Factors for Breast C... +38 projectsNIH| Mayo Clinic SPORE in Ovarian Cancer ,NIH| Genetic Epidemiology of Ovarian and Prostate Cancer ,NIH| Risk Factors for Breast Cancer in Younger Nurses ,NIH| USC CANCER CENTER EPIDEMIOLOGY &BIOSTATISTICS UNIT ,NIH| Regulatory T Cell Function in Ovarian Cancer ,CIHR ,NIH| Ovarian Cancer and Gonadotropin Signaling ,NIH| CASE CONTROL STUDY OF OVARIAN CANCER HORMONAL ETIOLOGY ,NIH| Prostate Cancer Risk Enhancers ,NIH| SURVEILLANCE EPIDEMIOLOGY AND END RESULTS ,NIH| Steroid Hormone Genes and Ovarian Cancer Risk ,NIH| Phytoestrogens, alcohol, and endometrial cancer risk ,EC| COGS ,NIH| Training Grant in Genomic Analysis and Interpretation ,NIH| Follow-up of Ovarian Cancer Genetic Association and Interaction Studies (FOCI) ,NIH| Genes, Hormones &Environment in an Ovarian Cancer Model ,NIH| Core--Tissue Banking and Pathology ,NIH| Haplotype-Based Genome Screen for Ovarian Cancer Loci ,NIH| GENETIC EPIDEMIOLOGY OF OVARIAN CANCER ,NIH| HEREDITARY BREAST CANCER--GENETIC AND MOLECULAR STUDIES ,NIH| BIOCHEMICAL MARKERS IN THE NURSE HEALTH STUDY COHORT ,NIH| THE NATURAL HISTORY OF HEREDITARY BREAST CANCER ,NIH| COLLABORATIVE STUDY OF OVARIAN CANCER IN TWO RISK GROUPS ,NIH| Epidemiology of Ovarian Cancer:New Hypotheses ,NIH| ESTROGEN, DIET, GENETICS AND ENDOMETRIAL CANCER ,NIH| MOLECULAR EPIDEMIOLOGY OF OVARIAN CANCER ,NHMRC| Towards cancer control: Population and molecular strategies ,NIH| SURVEILLANCE EPIDEMIOLOGY AND END RESULTS (SEER) ,NIH| Inflammation and Ovarian Cancer ,NIH| The Progesterone Receptor Gene and Ovarian Cancer Risk ,NIH| Premenopausal Hormone Levels and Risk of Breast Cancer ,NIH| CANCER CENTER SUPPORT GRANT ,NIH| SURVEILLANCE, EPIDEMIOLOGY, AND END RESULTS PROGRAM ,NIH| CASE-CONTROL STUDY OF OVARIAN CANCER IN LOS ANGELES ,NHMRC| Molecular Epidemiology of Ovarian Cancer: The Australian Ovarian Cancer Study National Clinical Follow-Up Core ,NIH| Genetic Variation in the NF-kappaB Pathway and Ovarian Cancer Etiology ,NIH| SURVEILLANCE EPIDEMIOLOGY &END RESULTS PROGRAM ,NIH| DNA POLYMORPHISMS IN OVARIAN CANCER--CASE CONTROL STUDY ,NIH| NORTHERN CALIFORNIA COOPERATIVE FAMILY REGISTRY ,NIH| RISK FACTORS AND PROGNOSTIC FACTORS FOR OVARIAN CANCER ,NIH| INTERNAL COUNCIL FOR TOBACCO RESEARCH AND TOBACCO INSTITGanna Chornokur; Hui-Yi Lin; Jonathan P Tyrer; Kate Lawrenson; Joe Dennis; Ernest K Amankwah; Xiaotao Qu; Ya-Yu Tsai; Heather S L Jim; Zhihua Chen; Ann Y Chen; Jennifer Permuth-Wey; Katja K H Aben; Hoda Anton-Culver; Natalia Antonenkova; Fiona Bruinsma; Elisa V Bandera; Yukie T Bean; Matthias W Beckmann; Maria Bisogna; Line Bjorge; Natalia Bogdanova; Louise A Brinton; Angela Brooks-Wilson; Clareann H Bunker; Ralf Butzow; Ian G Campbell; Karen Carty; Jenny Chang-Claude; Linda S Cook; Daniel W Cramer; Julie M Cunningham; Cezary Cybulski; Agnieszka Dansonka-Mieszkowska; Andreas du Bois; Evelyn Despierre; Ed Dicks; Jennifer A Doherty; Thilo Dörk; Matthias Dürst; Douglas F Easton; Diana M Eccles; Robert P Edwards; Arif B Ekici; Peter A Fasching; Brooke L Fridley; Yu-Tang Gao; Aleksandra Gentry-Maharaj; Graham G Giles; Rosalind Glasspool; Marc T Goodman; Jacek Gronwald; Patricia Harrington; Philipp Harter; Alexander Hein; Florian Heitz; Michelle A T Hildebrandt; Peter Hillemanns; Claus K Hogdall; Estrid Hogdall; Satoyo Hosono; Anna Jakubowska; Allan Jensen; Bu-Tian Ji; Beth Y Karlan; Linda E Kelemen; Mellissa Kellar; Lambertus A Kiemeney; Camilla Krakstad; Susanne K Kjaer; Jolanta Kupryjanczyk; Diether Lambrechts; Sandrina Lambrechts; Nhu D Le; Alice W Lee; Shashi Lele; Arto Leminen; Jenny Lester; Douglas A Levine; Dong Liang; Boon Kiong Lim; Jolanta Lissowska; Karen Lu; Jan Lubinski; Lene Lundvall; Leon F A G Massuger; Keitaro Matsuo; Valerie McGuire; John R McLaughlin; Iain McNeish; Usha Menon; Roger L Milne; Francesmary Modugno; Kirsten B Moysich; Roberta B Ness; Heli Nevanlinna; Ursula Eilber; Kunle Odunsi; Sara H Olson; Irene Orlow; Sandra Orsulic; Rachel Palmieri Weber; James Paul; Celeste L Pearce; Tanja Pejovic; Liisa M Pelttari; Malcolm C Pike; Elizabeth M Poole; Harvey A Risch; Barry Rosen; Mary Anne Rossing; Joseph H Rothstein; Anja Rudolph; Ingo B Runnebaum; Iwona K Rzepecka; Helga B Salvesen; Eva Schernhammer; Ira Schwaab; Xiao-Ou Shu; Yurii B Shvetsov; Nadeem Siddiqui; Weiva Sieh; Honglin Song; Melissa C Southey; Beata Spiewankiewicz; Lara Sucheston; Soo-Hwang Teo; Kathryn L Terry; Pamela J Thompson; Lotte Thomsen; Ingvild L Tangen; Shelley S Tworoger; Anne M van Altena; Robert A Vierkant; Ignace Vergote; Christine S Walsh; Shan Wang-Gohrke; Nicolas Wentzensen; Alice S Whittemore; Kristine G Wicklund; Lynne R Wilkens; Anna H Wu; Xifeng Wu; Yin-Ling Woo; Hannah Yang; Wei Zheng; Argyrios Ziogas; Hanis N Hasmad; Andrew Berchuck; Georgia Chenevix-Trench; AOCS management group; Edwin S Iversen; Joellen M Schildkraut; Susan J Ramus; Ellen L Goode; Alvaro N A Monteiro; Simon A Gayther; Steven A Narod; Paul D P Pharoah; Thomas A Sellers; Catherine M Phelan;pmc: PMC4474865
pmid: 26091520
BACKGROUND: Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which in turn may promote the formation of reactive oxygen species, promoting DNA damage and aberrant expression of key regulatory cancer genes. As DNA damage and uncontrolled proliferation are hallmarks of cancer, including epithelial ovarian cancer (EOC), we hypothesized that inherited variation in the cellular transport genes contributes to EOC risk. METHODS: In total, DNA samples were obtained from 14,525 case subjects with invasive EOC and from 23,447 controls from 43 sites in the Ovarian Cancer Association Consortium (OCAC). Two hundred seventy nine SNPs, representing 131 genes, were genotyped using an Illumina Infinium iSelect BeadChip as part of the Collaborative Oncological Gene-environment Study (COGS). SNP analyses were conducted using unconditional logistic regression under a log-additive model, and the FDR q<0.2 was applied to adjust for multiple comparisons. RESULTS: The most significant evidence of an association for all invasive cancers combined and for the serous subtype was observed for SNP rs17216603 in the iron transporter gene HEPH (invasive: OR = 0.85, P = 0.00026; serous: OR = 0.81, P = 0.00020); this SNP was also associated with the borderline/low malignant potential (LMP) tumors (P = 0.021). Other genes significantly associated with EOC histological subtypes (p<0.05) included the UGT1A (endometrioid), SLC25A45 (mucinous), SLC39A11 (low malignant potential), and SERPINA7 (clear cell carcinoma). In addition, 1785 SNPs in six genes (HEPH, MGST1, SERPINA, SLC25A45, SLC39A11 and UGT1A) were imputed from the 1000 Genomes Project and examined for association with INV EOC in white-European subjects. The most significant imputed SNP was rs117729793 in SLC39A11 (per allele, OR = 2.55, 95% CI = 1.5-4.35, p = 5.66x10-4). CONCLUSION: These results, generated on a large cohort of women, revealed associations between inherited cellular transport gene variants and risk of EOC histologic subtypes. Contains fulltext : 154822.PDF (Publisher’s version ) (Open Access)
Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaHELDA - Digital Repository of the University of HelsinkiArticle . 2015Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1371/journal.pone.0128106&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu894 citations 894 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 4visibility views 4 download downloads 21 Powered bymore_vert Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2015Data sources: eScholarship - University of CaliforniaHELDA - Digital Repository of the University of HelsinkiArticle . 2015Data sources: HELDA - Digital Repository of the University of Helsinkiadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1371/journal.pone.0128106&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2023 United StatesSpringer Science and Business Media LLC Amy, Grossman; Ndola, Prata; Natalie, Williams; Bela, Ganatra; Antonella, Lavelanet; Laurence, Läser; Chilanga, Asmani; Hayfa, Elamin; Leopold, Ouedraogo; Md Mahmudur, Rahman; Musu Julie, Conneh-Duworko; Bentoe Zoogley, Tehoungue; Harriet, Chanza; Henry, Phiri; Bharat, Bhattarai; Narayan Prasad, Dhakal; Olumuyiwa Adesanya, Ojo; Kayode, Afolabi; Theopista John, Kabuteni; Binyam Getachew, Hailu; Francis, Moses; Sithembile, Dlamini-Nqeketo; Thembi, Zulu; Ulrika, Rehnström Loi;In recent years a growing number of manufacturers and medical abortion products have entered country markets and health systems, with varying degrees of quality and accessibility. An interplay of factors including pharmaceutical regulations, abortion laws, government policies and service delivery guidelines and provider's knowledge and practices influence the availability of medical abortion medicines. We assessed the availability of medical abortion in eight countries to increase understanding among policymakers of the need to improve availability and affordability of quality-assured medical abortion products at regional and national levels.Using a national assessment protocol and an availability framework, we assessed the availability of medical abortion medicines in Bangladesh, Liberia, Malawi, Nepal, Nigeria, Rwanda, Sierra Leone and South Africa between September 2019 and January 2020.Registration of abortion medicines-misoprostol or a combination of mifepristone and misoprostol-was established in all countries assessed, except Rwanda. Mifepristone and misoprostol regimen for medical abortion was identified on the national essential medicines list/standard treatment guidelines for South Africa as well as in specific abortion care service and delivery guidelines for Bangladesh, Nepal, Nigeria, and Rwanda. In Liberia, Malawi, and Sierra Leone-countries with highly restrictive abortion laws and no abortion service delivery guidelines or training curricula-no government-supported training on medical abortion for public sector providers had occurred. Instead, training on medical abortion was either limited in scope to select private sector providers and pharmacists or prohibited. Community awareness activities on medical abortion have been limited in scope across the countries assessed and where abortion is broadly legal, most women do not know that it is an option.Understanding the factors that influence the availability of medical abortion medicines is important to support policymakers improve availability of these medicines. The landscape assessments documented that medical abortion commodities can be uniquely impacted by the laws, policies, values, and degree of restrictions placed on service delivery programs. Results of the assessments can guide actions to improve access.Unsafe abortion is a leading cause of death and disability among women of reproductive age. Medical management of abortion with mifepristone and misoprostol pills, or just misoprostol, is a safe and effective way to end a pregnancy. Owing to an increase in the number of medical abortion products that have entered country health systems, we examined access to these medicines from supply to demand in selected countries. The overarching goal of the national landscape assessments was to produce evidence to support advocacy efforts and policymaking for improved access to quality medical abortion products that is appropriate to the needs of the country. This paper aims to describe key findings across eight country settings on the availability of medical abortion medicines and identify key opportunities to improve access to them across countries.
eScholarship - Unive... arrow_drop_down eScholarship - University of CaliforniaArticle . 2023Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1186/s12978-023-01574-3&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu3 citations 3 popularity Top 10% influence Top 10% impulse Average Powered by BIP!more_vert eScholarship - Unive... arrow_drop_down eScholarship - University of CaliforniaArticle . 2023Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1186/s12978-023-01574-3&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2020 Germany, Turkey, Netherlands, United States, Brazil, Belgium, Finland, Spain, Italy, France, France, Italy, United KingdomCold Spring Harbor Laboratory Parma, Valentina; Ohla, Kathrin; Veldhuizen, Maria G; Niv, Masha Y; Kelly, Christine E; Bakke, Alyssa J; Cooper, Keiland W; Bouysset, Cédric; Pirastu, Nicola; Dibattista, Michele; Kaur, Rishemjit; Liuzza, Marco Tullio; Pepino, Marta Y; Schöpf, Veronika; Pereda-Loth, Veronica; Olsson, Shannon B; Gerkin, Richard C; Rohlfs Domínguez, Paloma; Albayay, Javier; Farruggia, Michael C; Bhutani, Surabhi; Fjaeldstad, Alexander W; Kumar, Ritesh; Menini, Anna; Bensafi, Moustafa; Sandell, Mari; Konstantinidis, Iordanis; Di Pizio, Antonella; Genovese, Federica; Öztürk, Lina; Thomas-Danguin, Thierry; Frasnelli, Johannes; Boesveldt, Sanne; Saatci, Özlem; Saraiva, Luis R; Lin, Cailu; Golebiowski, Jérôme; Hwang, Liang-Dar; Ozdener, Mehmet Hakan; Guàrdia, Maria Dolors; Laudamiel, Christophe; Ritchie, Marina; Havlícek, Jan; Pierron, Denis; Roura, Eugeni; Navarro, Marta; Nolden, Alissa A; Lim, Juyun; Whitcroft, Katherine L; Colquitt, Lauren R; Ferdenzi, Camille; Brindha, Evelyn V; Altundag, Aytug; Macchi, Alberto; Nunez-Parra, Alexia; Patel, Zara M; Fiorucci, Sébastien; Philpott, Carl M; Smith, Barry C; Lundström, Johan N; Mucignat, Carla; Parker, Jane K; van den Brink, Mirjam; Schmuker, Michael; Fischmeister, Florian Ph S; Heinbockel, Thomas; Shields, Vonnie D C; Faraji, Farhoud; Santamaría, Enrique; Fredborg, William E A; Morini, Gabriella; Olofsson, Jonas K; Jalessi, Maryam; Karni, Noam; D’Errico, Anna; Alizadeh, Rafieh; Pellegrino, Robert; Meyer, Pablo; Huart, Caroline; Chen, Ben; Soler, Graciela M; Alwashahi, Mohammed K; Welge-Lüssen, Antje; Freiherr, Jessica; de Groot, Jasper H B; Klein, Hadar; Okamoto, Masako; Singh, Preet Bano; Hsieh, Julien W; Abdulrahman, Olagunju; Dalton, Pamela; Yan, Carol H; Voznessenskaya, Vera V; Chen, Jingguo; Sell, Elizabeth A; Walsh-Messinger, Julie; Archer, Nicholas S; Koyama, Sachiko; Deary, Vincent; Roberts, S Craig; Yanık, Hüseyin; Albayrak, Samet; Nováková, Lenka Martinec; Croijmans, Ilja; Mazal, Patricia Portillo; Moein, Shima T; Margulis, Eitan; Mignot, Coralie; Mariño, Sajidxa; Georgiev, Dejan; Kaushik, Pavan K; Malnic, Bettina; Wang, Hong; Seyed-Allaei, Shima; Yoluk, Nur; Razzaghi-Asl, Sara; Justice, Jeb M; Restrepo, Diego; Abdulrahman, Olagunju; Dalton, Pamela; Yan, Carol H; Voznessenskaya, Vera V; Chen, Jingguo; Sell, Elizabeth A; Walsh-Messinger, Julie; Archer, Nicholas S; Koyama, Sachiko; Deary, Vincent; Roberts, S Craig; Yanık, Hüseyin; Albayrak, Samet; Nováková, Lenka Martinec; Croijmans, Ilja; Mazal, Patricia Portillo; Moein, Shima T; Margulis, Eitan; Mignot, Coralie; Mariño, Sajidxa; Georgiev, Dejan; Kaushik, Pavan K; Malnic, Bettina; Wang, Hong; Seyed-Allaei, Shima; Yoluk, Nur; Razzaghi-Asl, Sara; Justice, Jeb M; Restrepo, Diego; Reed, Danielle R; Hummel, Thomas; Munger, Steven D; Hayes, John E;pmc: PMC7323242 , PMC7337664 , PMC8689756
Recent anecdotal and scientific reports have provided evidence of a link between COVID-19 and chemosensory impairments such as anosmia. However, these reports have downplayed or failed to distinguish potential effects on taste, ignored chemesthesis, and generally lacked quantitative measurements. Here, we report the development, implementation and initial results of a multi-lingual, international questionnaire to assess self-reported quantity and quality of perception in three distinct chemosensory modalities (smell, taste, and chemesthesis) before and during COVID-19. In the first 11 days after questionnaire launch, 4039 participants (2913 women, 1118 men, 8 other, ages 19-79) reported a COVID-19 diagnosis either via laboratory tests or clinical assessment. Importantly, smell, taste and chemesthetic function were each significantly reduced compared to their status before the disease. Difference scores (maximum possible change ±100) revealed a mean reduction of smell (-79.7 ± 28.7, mean ± SD), taste (-69.0 ± 32.6), and chemesthetic (-37.3 ± 36.2) function during COVID-19. Qualitative changes in olfactory ability (parosmia and phantosmia) were relatively rare and correlated with smell loss. Importantly, perceived nasal obstruction did not account for smell loss. Furthermore, chemosensory impairments were similar between participants in the laboratory test and clinical assessment groups. These results show that COVID-19-associated chemosensory impairment is not limited to smell, but also affects taste and chemesthesis. The multimodal impact of COVID-19 and lack of perceived nasal obstruction suggest that SARS-CoV-2 infection may disrupt sensory-neural mechanisms. Contains fulltext : 221636.pdf (Publisher’s version ) (Open Access) 14 p.
NARCIS arrow_drop_down Research@WUR; Recolector de Ciencia Abierta, RECOLECTA; SISSA Digital Library; Chemical Senses; Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) - Universidade de São Paulo (USP)Other literature type . Article . 2020License: OUP Standard Publication ReuseHELDA - Digital Repository of the University of HelsinkiArticle . 2020Data sources: HELDA - Digital Repository of the University of HelsinkiNARCIS; Chemical SensesArticle . 2020eScholarship - University of CaliforniaArticle . 2020Data sources: eScholarship - University of CaliforniaBiruni University Institutional RepositoryArticle . 2022License: CC BY NC NDData sources: Biruni University Institutional RepositoryHAL-Inserm; Mémoires en Sciences de l'Information et de la Communication; Hal-DiderotArticle . 2020License: CC BY NC NDadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1101/2020.05.04.20090902&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu382 citations 382 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 20visibility views 20 download downloads 79 Powered bymore_vert NARCIS arrow_drop_down Research@WUR; Recolector de Ciencia Abierta, RECOLECTA; SISSA Digital Library; Chemical Senses; Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) - Universidade de São Paulo (USP)Other literature type . Article . 2020License: OUP Standard Publication ReuseHELDA - Digital Repository of the University of HelsinkiArticle . 2020Data sources: HELDA - Digital Repository of the University of HelsinkiNARCIS; Chemical SensesArticle . 2020eScholarship - University of CaliforniaArticle . 2020Data sources: eScholarship - University of CaliforniaBiruni University Institutional RepositoryArticle . 2022License: CC BY NC NDData sources: Biruni University Institutional RepositoryHAL-Inserm; Mémoires en Sciences de l'Information et de la Communication; Hal-DiderotArticle . 2020License: CC BY NC NDadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1101/2020.05.04.20090902&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2013 United States, Germany EnglishPublic Library of Science (PLoS) NIH | EID - Effects of avian mi..., NSF | EID: Effects of Deforesta..., NIH | NIH Directors Pioneer Awa...NIH| EID - Effects of avian migration &anthropogenic change on the distribution &tra ,NSF| EID: Effects of Deforestation on the Prevalence of Blood-Borne Pathogens in African Rainforest Birds. ,NIH| NIH Directors Pioneer AwardAuthors: Thomassen, Henri A; Fuller, Trevon; Asefi-Najafabady, Salvi; Shiplacoff, Julia AG; +18 AuthorsThomassen, Henri A; Fuller, Trevon; Asefi-Najafabady, Salvi; Shiplacoff, Julia AG; Mulembakani, Prime M; Blumberg, Seth; Johnston, Sara C; Kisalu, Neville K; Kinkela, Timothée L; Fair, Joseph N; Wolfe, Nathan D; Shongo, Robert L; LeBreton, Matthew; Meyer, Hermann; Wright, Linda L; Muyembe, Jean-Jacques; Buermann, Wolfgang; Okitolonda, Emile; Hensley, Lisa E; Lloyd-Smith, James O; Smith, Thomas B; Rimoin, Anne W;pmc: PMC3729955
pmid: 23935820
Climate change is predicted to result in changes in the geographic ranges and local prevalence of infectious diseases, either through direct effects on the pathogen, or indirectly through range shifts in vector and reservoir species. To better understand the occurrence of monkeypox virus (MPXV), an emerging Orthopoxvirus in humans, under contemporary and future climate conditions, we used ecological niche modeling techniques in conjunction with climate and remote-sensing variables. We first created spatially explicit probability distributions of its candidate reservoir species in Africa's Congo Basin. Reservoir species distributions were subsequently used to model current and projected future distributions of human monkeypox (MPX). Results indicate that forest clearing and climate are significant driving factors of the transmission of MPX from wildlife to humans under current climate conditions. Models under contemporary climate conditions performed well, as indicated by high values for the area under the receiver operator curve (AUC), and tests on spatially randomly and non-randomly omitted test data. Future projections were made on IPCC 4(th) Assessment climate change scenarios for 2050 and 2080, ranging from more conservative to more aggressive, and representing the potential variation within which range shifts can be expected to occur. Future projections showed range shifts into regions where MPX has not been recorded previously. Increased suitability for MPX was predicted in eastern Democratic Republic of Congo. Models developed here are useful for identifying areas where environmental conditions may become more suitable for human MPX; targeting candidate reservoir species for future screening efforts; and prioritizing regions for future MPX surveillance efforts.
Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=PMC3729955&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu16 citations 16 popularity Top 10% influence Top 10% impulse Average Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of CaliforniaeScholarship - University of CaliforniaArticle . 2013Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=PMC3729955&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2019 United States, ItalyAmerican Society for Microbiology Anthony S. Amend; Gaëtan Burgaud; Michael Cunliffe; Virginia P. Edgcomb; Cassandra L. Ettinger; M. H. Gutiérrez; Joseph Heitman; Erik F. Y. Hom; Giuseppe Ianiri; Adam C. Jones; Maiko Kagami; Kathryn T. Picard; C. Alisha Quandt; Seshagiri Raghukumar; Mertixell Riquelme; Jason E. Stajich; José M. Vargas-Muñiz; Allison K. Walker; Oded Yarden; Amy S. Gladfelter;ABSTRACT Terrestrial fungi play critical roles in nutrient cycling and food webs and can shape macroorganism communities as parasites and mutualists. Although estimates for the number of fungal species on the planet range from 1.5 to over 5 million, likely fewer than 10% of fungi have been identified so far. To date, a relatively small percentage of described species are associated with marine environments, with ∼1,100 species retrieved exclusively from the marine environment. Nevertheless, fungi have been found in nearly every marine habitat explored, from the surface of the ocean to kilometers below ocean sediments. Fungi are hypothesized to contribute to phytoplankton population cycles and the biological carbon pump and are active in the chemistry of marine sediments. Many fungi have been identified as commensals or pathogens of marine animals (e.g., corals and sponges), plants, and algae. Despite their varied roles, remarkably little is known about the diversity of this major branch of eukaryotic life in marine ecosystems or their ecological functions. This perspective emerges from a Marine Fungi Workshop held in May 2018 at the Marine Biological Laboratory in Woods Hole, MA. We present the state of knowledge as well as the multitude of open questions regarding the diversity and function of fungi in the marine biosphere and geochemical cycles. Terrestrial fungi play critical roles in nutrient cycling and food webs and can shape macroorganism communities as parasites and mutualists. Although estimates for the number of fungal species on the planet range from 1.5 to over 5 million, likely fewer than 10% of fungi have been identified so far.
Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1128/mbio.01189-18&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu148 citations 148 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!more_vert Europe PubMed Centra... arrow_drop_down eScholarship - University of CaliforniaArticle . 2019Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1128/mbio.01189-18&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2017 Italy, Italy, Germany, United Kingdom, United Kingdom, Netherlands, United Kingdom, Denmark, Croatia, Denmark, United Kingdom, Denmark, United Kingdom, Italy, United StatesSpringer Science and Business Media LLC UKRI | Automated manufacturing c..., EC | ePerMed, EC | GLUCOSEGENES +2 projectsUKRI| Automated manufacturing cost estimator and supply chain management portal ,EC| ePerMed ,EC| GLUCOSEGENES ,WT ,NWO| North Sea Reef Vitalization For Ecosystem Services (North Sea ReViFES)Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina; Lo, Ken Sin; Wood, Andrew R; Kjaer, Troels R; Fine, Rebecca S; Lu, Yingchang; Schurmann, Claudia; Highland, Heather M; Rueger, Sina; Thorleifsson, Gudmar; Justice, Anne E; Lamparter, David; Stirrups, Kathleen E; Turcot, Valerie; Young, Kristin L; Winkler, Thomas W; Esko, Tonu; Karaderi, Tugce; Locke, Adam E; Masca, Nicholas GD; Ng, Maggie CY; Mudgal, Poorva; Rivas, Manuel A; Vedantam, Sailaja; Mahajan, Anubha; Guo, Xiuqing; Abecasis, Goncalo; Aben, Katja K; Adair, Linda S; Alam, Dewan S; Albrecht, Eva; Allin, Kristine H; Allison, Matthew; Amouyel, Philippe; Appel, Emil V; Arveiler, Dominique; Asselbergs, Folkert W; Auer, Paul L; Balkau, Beverley; Banas, Bernhard; Bang, Lia E; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F; Blueher, Matthias; Boeing, Heiner; Boerwinkle, Eric; Boeger, Carsten A; Bonnycastle, Lori L; Bork-Jensen, Jette; Bots, Michiel L; Bottinger, Erwin P; Bowden, Donald W; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H; Broer, Linda; Burt, Amber A; Butterworth, Adam S; Carey, David J; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y; Cocca, Massimiliano; Collins, Francis S; Cook, James P; Corley, Janie; Galbany, Jordi Corominas; Cox, Amanda J; Cuellar-Partida, Gabriel; Danesh, John; Davies, Gail; de Bakker, Paul IW; de Borst, Gert J; de Denus, Simon; de Groot, Mark CH; de Mutsert, Renee; Deary, Ian J; Dedoussis, George; Demerath, Ellen W; den Hollander, Anneke I; Dennis, Joe G; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dunning, Alison M; Easton, Douglas F; Ebeling, Tapani; Edwards, Todd L; Ellinor, Patrick T; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Faul, Jessica D; Feitosa, Mary F; Feng, Shuang; Ferrannini, Ele; Ferrario, Marco M; Ferrieres, Jean; Florez, Jose C; Ford, Ian; Fornage, Myriam; Franks, Paul W; Frikke-Schmidt, Ruth; Galesloot, Tessel E; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Giri, Ayush; Girotto, Giorgia; Gordon, Scott D; Gordon-Larsen, Penny; Gorski, Mathias; Grarup, Niels; Grove, Megan L; Gudnason, Vilmundur; Gustafsson, Stefan; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B; Hattersley, Andrew T; Hayward, Caroline; He, Liang; Heid, Iris M; Heikkila, Kauko; Helgeland, Oyvind; Hernesniemi, Jussi; Hewitt, Alex W; Hocking, Lynne J; Hollensted, Mette; Holmen, Oddgeir L; Hovingh, G Kees; Howson, Joanna MM; Hoyng, Carel B; Huang, Paul L; Hveem, Kristian; Ikram, M Arfan; Ingelsson, Erik; Jackson, Anne U; Jansson, Jan-Hakan; Jarvik, Gail P; Jensen, Gorm B; Jhun, Min A; Jia, Yucheng; Jiang, Xuejuan; Johansson, Stefan; Jorgensen, Marit E; Jorgensen, Torben; Jousilahti, Pekka; Jukema, J Wouter; Kahali, Bratati; Kahn, Rene S; Kahonen, Mika; Kamstrup, Pia R; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon LR; Karpe, Fredrik; Kee, Frank; Keeman, Renske; Kiemeney, Lambertus A; Kitajima, Hidetoshi; Kluivers, Kirsten B; Kocher, Thomas; Komulainen, Pirjo; Kontto, Jukka; Kooner, Jaspal S; Kooperberg, Charles; Kovacs, Peter; Kriebel, Jennifer; Kuivaniemi, Helena; Kury, Sebastien; Kuusisto, Johanna; La Bianca, Martina; Laakso, Markku; Lakka, Timo A; Lange, Ethan M; Lange, Leslie A; Langefeld, Carl D; Langenberg, Claudia; Larson, Eric B; Lee, I-Te; Lehtimaki, Terho; Lewis, Cora E; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Li-An; Lin, Xu; Lind, Lars; Lindstrom, Jaana; Linneberg, Allan; Mackey, David A; Marenne, Gaelle; Marten, Jonathan; Mazul, Angela L; Packard, Chris J; Padmanabhan, Sandosh; Palmer, Colin NA; Patel, Aniruddh P; Pedersen, Oluf; Pennell, Craig E; Polasek, Ozren; Posthuma, Danielle; Rioux, John D; Robino, Antonietta; Rudan, Igor; Sapkota, Yadav; Sattar, Naveed; Schmidt, Marjanka K; Schreiner, Pamela J; Schulze, Matthias B; Sim, Xueling; Small, Kerrin S; Smith, Albert Vernon; Smith, Jennifer A; Steinthorsdottir, Valgerdur; Stumvoll, Michael; 't Hart, Leen M; Tansey, Katherine E; Teumer, Alexander; Thuesen, Betina H; Tromp, Gerard; Trompet, Stella; Uher, Rudolf; Uitterlinden, Andre G; van der Laan, Sander W; van Duijn, Cornelia M; van Schoor, Natasja M; Varga, Tibor V; Vermeulen, Sita H; Vestergaard, Henrik; Vitart, Veronique; Wang, Carol A; Wang, Yiqin; Wessel, Jennifer; Witte, Daniel R; Yaghootkar, Hanieh; Young, Robin; Zhao, Wei; McCarthy, Mark I; Liu, Dajiang J; Heard-Costa, Nancy L; Pers, Tune H; Lindgren, Cecilia M; Oxvig, Claus; Loos, Ruth JF; Frayling, Timothy M; Deloukas, Panos;pmc: PMC5302847
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways. Contains fulltext : 169801.pdf (Publisher’s version ) (Closed access)
Nature; METIS Resear... arrow_drop_down Nature; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017License: Springer TDMData sources: European Union Open Data Portal; Erasmus University Rotterdam - Research Information Portal; Vrije Universiteit Amsterdam (VU Amsterdam) - Institutional Repository; Sygma; Crossref; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIVBN; Aalborg University Research PortalArticle . 2017Oxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveThe University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositoryNARCIS; Utrecht University RepositoryArticle . 2017eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of CaliforniaUniversity of Southern Denmark Research OutputArticle . 2017Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryPublication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1038/nature21039&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu529 citations 529 popularity Top 0.1% influence Top 1% impulse Top 0.01% Powered by BIP!visibility 28visibility views 28 download downloads 306 Powered bymore_vert Nature; METIS Resear... arrow_drop_down Nature; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017License: Springer TDMData sources: European Union Open Data Portal; Erasmus University Rotterdam - Research Information Portal; Vrije Universiteit Amsterdam (VU Amsterdam) - Institutional Repository; Sygma; Crossref; METIS Research Information System; NARCIS; PURE Aarhus University; Croatian Scientific Bibliography - CROSBIVBN; Aalborg University Research PortalArticle . 2017Oxford University Research ArchiveOther literature type . 2016Data sources: Oxford University Research ArchiveThe University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositoryNARCIS; Utrecht University RepositoryArticle . 2017eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of CaliforniaUniversity of Southern Denmark Research OutputArticle . 2017Data sources: University of Southern Denmark Research OutputSpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryPublication Server of Helmholtz Zentrum München (PuSH)Article . 2017Data sources: Publication Server of Helmholtz Zentrum München (PuSH)eScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of Californiaadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.This Research product is the result of merged Research products in OpenAIRE.
You have already added works in your ORCID record related to the merged Research product.All Research productsarrow_drop_down <script type="text/javascript"> <!-- document.write('<div id="oa_widget"></div>'); document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=10.1038/nature21039&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu