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description Publicationkeyboard_double_arrow_right Article 2017 United Kingdom, Ireland, United States, Finland, NorwaySpringer Science and Business Media LLC SFI | Gene discovery in schizop..., CIHR, NIH | CARDIOVASCULAR HEALTH STU... +47 projectsSFI| Gene discovery in schizophrenia using family-based sequencing methods ,CIHR ,NIH| CARDIOVASCULAR HEALTH STUDY--ECHOCARDIOGRAPHY ,NIH| SIBLING MODELS OF ADOLESCENT ALCOHOL USE AND ABUSE ,UKRI| A genome-wide association study of non-pathological cognitive ageing ,NIH| Exceptional aging: 12 year trajectories to function ,NIH| Substance Abuse &Behavioral Disinhibition: Integrating Genes &Environment ,NIH| Human Translational Applications Core (HTA - Core) (7 of 8) ,NIH| Twin Family Study of Vulnerability to Substance Abuse ,NIH| CHS-Transition Phase -268055222 ,NIH| Response Inhibition and Dopamine Neurotransmission (RI) (4 of 8) ,NIH| Twin Study of ADHD, CD and Substance Abuse ,NIH| Neurogenetic Pathways to Drug Use in Young Adults ,NIH| CHS Events Follow-up Study ,NIH| Translational Methods/Facilities Core (TMF - Core) (8 of 8) ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Striatal D2/D3 Dopamine receptor availability in first episode schizophrenia ,NIH| A Longitudinal Study of Adopted Youth and Their Families ,NIH| Neurodevelopmental Genomics: Trajectories of Complex Phenotypes ,WT ,NIH| CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84 ,NIH| Identification of genetic determinants of schizophrenia related phenotypes ,NIH| CHS RETINAL READING CENTER ,NIH| Influence of Psychosis on Brain-Behavior Endophenotypes for Bipolar Disorder ,NIH| 2/2 Neurodevelopmental Genomics: Trajectories of Complex Phenotypes ,SFI| Genes to Biology: A Translational Pipeline for Schizophrenia ,NIH| Consortium for Neuropsychiatric Phenomics-Coordinating Center (1 of 8) ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| CTSA INFRASTRUCTURE FOR AIDS RESEARCH ,NIH| UCLA Clinical and Translational Science Institute ,UKRI| Centre for Cognitive Ageing & Cognitive Epidemiology ,NIH| Memory Mechanisms and Mental Disorders ,NIH| Genetics of Normal Human Variation: Implications for Disease ,NIH| CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84 ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,SFI| Characterising the neural basis of social cognition deficits in schizophrenia using imaging genetics ,NIH| CHS-ULTRASOUND READING ,NIH| Neural signatures of healthy and unhealthy aging ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NIH| Neurocognition as an endophenotype in bipolar disorder ,NIH| MRI READING CENTER FOR THE CARDIOVASCULAR HEALTH STUDY ,NIH| Adolescent drinking and midlife outcomes: A prospective cotwin control study ,NIH| 1/2 Schizophrenia Heterogeneity and Toxoplasma Exposure ,NIH| Evolutionary Roles of Homozygosity & Copy Number Variation in Mental Disorders ,NIH| Diabetes Endocrinology Research Center ,NIH| Genetic Variation and Functional Disability in SchizophreniaJoey W. Trampush; M. L. Z. Yang; Jin Yu; Emma Knowles; Gary Davies; David C. Liewald; John M. Starr; Srdjan Djurovic; Ingrid Melle; Kjetil Sundet; Andrea Christoforou; Ivar Reinvang; Pamela DeRosse; Astri J. Lundervold; Vidar M. Steen; Thomas Espeseth; Katri Räikkönen; Elisabeth Widen; Aarno Palotie; Johan G. Eriksson; Ina Giegling; Bettina Konte; Panos Roussos; Stella G. Giakoumaki; Katherine E. Burdick; Antony Payton; William E R Ollier; Michael A Horan; Ornit Chiba-Falek; Deborah K. Attix; Anna C. Need; Elizabeth T. Cirulli; Aristotle N. Voineskos; Nicholas C. Stefanis; Dimitrios Avramopoulos; Alex Hatzimanolis; Dan E. Arking; Nikolaos Smyrnis; Robert M. Bilder; Nelson A. Freimer; Tyrone D. Cannon; Edythe D. London; Russell A. Poldrack; Fred W. Sabb; Eliza Congdon; Emily Drabant Conley; Matthew A. Scult; Dwight Dickinson; Richard E. Straub; Gary Donohoe; Derek W. Morris; Aiden Corvin; M. Gill; Ahmad R. Hariri; Daniel R. Weinberger; Neil Pendleton; Panos Bitsios; Dan Rujescu; Jari Lahti; S. Le Hellard; Matthew C. Keller; Ole A. Andreassen; Ian J. Deary; David C. Glahn; Anil K. Malhotra; Todd Lencz;pmc: PMC5322272 , PMC5659072
Abstract The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (~8M single-nucleotide polymorphisms (SNP) with minor allele frequency ⩾1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT). In addition, we utilized individual SNP lookups and polygenic score analyses to identify genetic overlap with other relevant neurobehavioral phenotypes. Our primary GWAS meta-analysis identified two novel SNP loci (top SNPs: rs76114856 in the CENPO gene on chromosome 2 and rs6669072 near LOC105378853 on chromosome 1) associated with cognitive performance at the genome-wide significance level (P<5 × 10−8). Gene-based analysis identified an additional three Bonferroni-corrected significant loci at chromosomes 17q21.31, 17p13.1 and 1p13.3. Altogether, common variation across the genome resulted in a conservatively estimated SNP heritability of 21.5% (s.e.=0.01%) for general cognitive function. Integration with prior GWAS of cognitive performance and educational attainment yielded several additional significant loci. Finally, we found robust polygenic correlations between cognitive performance and educational attainment, several psychiatric disorders, birth length/weight and smoking behavior, as well as a novel genetic association to the personality trait of openness. These data provide new insight into the genetics of neurocognitive function with relevance to understanding the pathophysiology of neuropsychiatric illness.
The University of Ma... arrow_drop_down The University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositorySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryeScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of CaliforniaHELDA - Digital Repository of the University of HelsinkiArticle . 2017Data sources: HELDA - Digital Repository of the University of HelsinkieScholarship - 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.
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For further information contact us at helpdesk@openaire.eu196 citations 196 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!
visibility 8visibility views 8 download downloads 101 Powered bymore_vert The University of Ma... arrow_drop_down The University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositorySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryeScholarship - University of CaliforniaArticle . 2017Data sources: eScholarship - University of CaliforniaHELDA - Digital Repository of the University of HelsinkiArticle . 2017Data sources: HELDA - Digital Repository of the University of HelsinkieScholarship - 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Conference object , Preprint 2012AIP NSERC, SFI | Probing the Extragalactic...NSERC ,SFI| Probing the Extragalactic Background Light with TeV BlazarsAuthors: J. Grube; null VERITAS Collaboration;J. Grube; null VERITAS Collaboration;Current cosmological models and data suggest the existence of a Cold Dark Matter (DM) component, however the nature of DM particles remains unknown. A favored candidate for DM is a Weakly Interacting Massive Particle (WIMP) in the mass range from 50 GeV to greater than 10 TeV. Nearby dwarf spheroidal galaxies (dSph) are expected to contain a high density of Dark Matter with a low gamma-ray background, and are thus promising targets for the detection of secondary gamma rays at very high energies (VHE, E > 0.1 TeV) through the annihilation of WIMPS into SM particles. Presented here are recent VERITAS observations of dSph, including a deep exposure on Segue 1. Limits are derived for various annihilating and decaying dark matter particle models. Proceedings of the 5th International Symposium on High-Energy Gamma-Ray Astronomy, Heidelberg, July 9-13, 2012
arXiv.org e-Print Ar... arrow_drop_down add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu4 citations 4 popularity Average influence Average impulse Average Powered by BIP!
more_vert arXiv.org e-Print Ar... arrow_drop_down add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2019 Spain, NetherlandsWiley NIH | Genetic predictors of met..., NIH | THE FRAMINGHAM HEART STUD..., NIH | Rare Sequence Variation a... +2 projectsNIH| Genetic predictors of metabolic responses to dairy ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NIH| Rare Sequence Variation and Diabetes Quantitative Traits ,NIH| Epidemiology of Precursors to Type 2 Diabetes ,SFI| Dietary fatty acids: impact on inflammasome driven adipose inflammation and insulin resistance – novel therapeutic targetsAoife M. Murphy; Caren E. Smith; Leanne M Murphy; Jack L. Follis; Toshiko Tanaka; Kris Richardson; Raymond Noordam; Rozenn N. Lemaitre; Mika Kähönen; Josée Dupuis; Trudy Voortman; Eirini Marouli; Dennis O. Mook-Kanamori; Olli T. Raitakari; Jaeyoung Hong; Abbas Dehghan; George Dedoussis; Renée de Mutsert; Terho Lehtimäki; Ching-Ti Liu; Fernando Rivadeneira; Panagiotis Deloukas; Vera Mikkilä; James B. Meigs; André G. Uitterlinden; Mohammad Arfan Ikram; Oscar H. Franco; Maria Hughes; Peadar Ó Gaora; Jose M. Ordovas; Helen M. Roche;ScopeInsulin resistance (IR) and inflammation are hallmarks of type 2 diabetes (T2D). The nod‐like receptor pyrin domain containing‐3 (NLRP3) inflammasome is a metabolic sensor activated by saturated fatty acids (SFA) initiating IL‐1β inflammation and IR. Interactions between SFA intake and NLRP3‐related genetic variants may alter T2D risk factors.MethodsMeta‐analyses of six Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (n = 19 005) tested interactions between SFA and NLRP3‐related single‐nucleotide polymorphisms (SNPs) and modulation of fasting insulin, fasting glucose, and homeostasis model assessment of insulin resistance.ResultsSFA interacted with rs12143966, wherein each 1% increase in SFA intake increased insulin by 0.0063 IU mL−1 (SE ± 0.002, p = 0.001) per each major (G) allele copy. rs4925663, interacted with SFA (β ± SE = −0.0058 ± 0.002, p = 0.004) to increase insulin by 0.0058 IU mL−1, per additional copy of the major (C) allele. Both associations are close to the significance threshold (p < 0.0001). rs4925663 causes a missense mutation affecting NLRP3 expression.ConclusionTwo NLRP3‐related SNPs showed potential interaction with SFA to modulate fasting insulin. Greater dietary SFA intake accentuates T2D risk, which, subject to functional validation, may be further elaborated depending on NLRP3‐related genetic variants.
NARCIS arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2019Data sources: Recolector de Ciencia Abierta, RECOLECTAMolecular Nutrition & Food ResearchArticle . 2019LUMC Scholarly Publications; NARCISOther literature type . Article . 2019add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu10 citations 10 popularity Top 10% influence Average impulse Top 10% Powered by BIP!
more_vert NARCIS arrow_drop_down Recolector de Ciencia Abierta, RECOLECTAArticle . 2019Data sources: Recolector de Ciencia Abierta, RECOLECTAMolecular Nutrition & Food ResearchArticle . 2019LUMC Scholarly Publications; NARCISOther literature type . Article . 2019add 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Preprint 2011 Germany, United Kingdom, IrelandAmerican Association for the Advancement of Science (AAAS) SFI | Probing the Extragalactic..., NSERCSFI| Probing the Extragalactic Background Light with TeV Blazars ,NSERCVERITAS Collaboration; Aliu, E.; Arlen, T.; Aune, T.; Beilicke, M.; Benbow, W.; Bouvier, A.; Bradbury, S. M.; Buckley, J. H.; Bugaev, V.; Byrum, K.; Cannon, A.; Cesarini, A.; Christiansen, J. L.; Ciupik, L.; Collins-Hughes, E.; Connolly, M. P.; Cui, W.; Dickherber, R.; Duke, C.; Errando, M.; Falcone, A.; Finley, J. P.; Finnegan, G.; Fortson, L.; Furniss, A.; Galante, N.; Gall, D.; Gibbs, K.; Gillanders, G. H.; Godambe, S.; Griffin, S.; Grube, J.; Guenette, R.; Gyuk, G.; Hanna, D.; Holder, J.; Huan, H.; Hughes, G.; Hui, C. M.; Humensky, T. B.; Imran, A.; Kaaret, P.; Karlsson, N.; Kertzman, M.; Kieda, D.; Krawczynski, H.; Krennrich, F.; Lang, M. J.; Lyutikov, M.; Madhavan, A. S; Maier, G.; Majumdar, P.; McArthur, S.; McCann, A.; McCutcheon, M.; Moriarty, P.; Mukherjee, R.; Nu��ez, P.; Ong, R. A.; Orr, M.; Otte, A. N.; Park, N.; Perkins, J. S.; Pizlo, F.; Pohl, M.; Prokoph, H.; Quinn, J.; Ragan, K.; Reyes, L. C.; Reynolds, P. T.; Roache, E.; Rose, J.; Ruppel, J.; Saxon, D. B.; Schroedter, M.; Sembroski, G. H.; ��ent��rk, G. D.; Smith, A. W.; Staszak, D.; Te��i��, G.; Theiling, M.; Thibadeau, S.; Tsurusaki, K.; Tyler, J.; Varlotta, A.; Vassiliev, V. V.; Vincent, S.; Vivier, M.; Wakely, S. P.; Ward, J. E.; Weekes, T. C.; Weinstein, A.; Weisgarber, T.; Williams, D. A.; Zitzer, B.;pmid: 21980105
We report the detection of pulsed gamma rays from the Crab pulsar at energies above 100 Gigaelectronvolts (GeV) with the VERITAS array of atmospheric Cherenkov telescopes. The detection cannot be explained on the basis of current pulsar models. The photon spectrum of pulsed emission between 100 Megaelectronvolts (MeV) and 400 GeV is described by a broken power law that is statistically preferred over a power law with an exponential cutoff. It is unlikely that the observation can be explained by invoking curvature radiation as the origin of the observed gamma rays above 100 GeV. Our findings require that these gamma rays be produced more than 10 stellar radii from the neutron star. Comment: 17 pages, corresponding authors: Nepomuk Otte nepomuk.otte@gmail.com; Andrew McCann mccann@hep.physics.mcgill.ca; Martin Schroedter schroedter@veritas.sao.arizona.edu
Access to Research a... arrow_drop_down Oxford University Research Archive; ScienceOther literature type . Article . 2011 . 2016Publikationsserver der Universität PotsdamArticle . 2011Data sources: Publikationsserver der Universität Potsdamadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eu158 citations 158 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!
more_vert Access to Research a... arrow_drop_down Oxford University Research Archive; ScienceOther literature type . Article . 2011 . 2016Publikationsserver der Universität PotsdamArticle . 2011Data sources: Publikationsserver der Universität Potsdamadd ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Preprint 2019Cold Spring Harbor Laboratory NSERC, CIHR, NHMRC | Human Epilepsy: Understan... +15 projectsNSERC ,CIHR ,NHMRC| Human Epilepsy: Understanding biology to improve outcomes ,NIH| High resolution mapping of the genetic risk for disease in the aging brain ,NIH| Multimodal imaging of cognitive networks in epilepsy: Implications for surgery ,NIH| ENIGMA-COINSTAC: Advanced Worldwide Transdiagnostic Analysis of Valence System Brain CircuitsPD ,NIH| A global alliance to unlock brain mechanisms influencing suicidal behaviors through the ENIGMA Consortium ,SFI| FutureNeuro ,UKRI| Brain architecture and connectivity at epilepsy diagnosis: markers of cognitive dysfunction and pharmacoresistance ,NIH| Laboratory of Neuro Imaging Resource (LONIR) ,NIH| Prediction of seizure lateralization and postoperative outcome through the use of deep learning applied to multi-site MRI/DTI data: An ENIGMA-Epilepsy study ,NIH| SOLAR-Eclipse Computational Tools for Imaging Genetics ,NIH| ENIGMA-SD: Understanding Sex Differences in Global Mental Health through ENIGMA ,UKRI| Translation of novel imaging techniques into clinical use for patients with epilepsy ,NIH| Predicting Epilepsy Surgery Outcomes Using Neural Network Architecture ,UKRI| Imaging prognostic markers for surgical seizure control in medically intractable temporal lobe epilepsy ,NIH| ENIGMA World Aging Center ,NIH| ENIGMA Center for Worldwide Medicine, Imaging & GenomicsSean N Hatton; Khoa H Huynh; Leonardo Bonilha; Eugenio Abela; Saud Alhusaini; Andre Altmann; Marina KM Alvim; Akshara R Balachandra; Emanuele Bartolini; Benjamin Bender; Neda Bernasconi; Andrea Bernasconi; Boris Bernhardt; Núria Bargallo; Benoit Caldairou; Maria Eugenia Caligiuri; Sarah JA Carr; Gianpiero L Cavalleri; Fernando Cendes; Luis Concha; Esmaeil Davoodi-bojd; Patricia M Desmond; Orrin Devinsky; Colin P Doherty; Martin Domin; John S Duncan; Niels K Focke; Sonya F Foley; Antonio Gambardella; Ezequiel Gleichgerrcht; Renzo Guerrini; Khalid Hamandi; Akaria Ishikawa; Simon S Keller; Peter V Kochunov; Raviteja Kotikalapudi; Barbara AK Kreilkamp; Patrick Kwan; Angelo Labate; Soenke Langner; Matteo Lenge; Min Liu; Elaine Lui; Pascal Martin; Mario Mascalchi; José CV Moreira; Marcia E Morita-Sherman; Terence J O’Brien; Heath R Pardoe; José C Pariente; Letícia F Ribeiro; Mark P Richardson; Cristiane S Rocha; Raúl Rodríguez-Cruces; Felix Rosenow; Mariasavina Severino; Benjamin Sinclair; Hamid Soltanian-Zadeh; Pasquale Striano; Peter N Taylor; Rhys H Thomas; Domenico Tortora; Dennis Velakoulis; Annamaria Vezzani; Lucy Vivash; Felix von Podewils; Sjoerd B Vos; Bernd Weber; Gavin P Winston; Clarissa L Yasuda; Paul M Thompson; Neda Jahanshad; Sanjay M Sisodiya; Carrie R McDonald;AbstractThe epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analyzed from 1,069 non-epileptic controls and 1,249 patients: temporal lobe epilepsy with hippocampal sclerosis (N=599), temporal lobe epilepsy with normal MRI (N=275), genetic generalized epilepsy (N=182) and nonlesional extratemporal epilepsy (N=193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fiber tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at p<0.001). Across “all epilepsies” lower fractional anisotropy was observed in most fiber tracts with small to medium effect sizes, especially in the corpus callosum, cingulum and external capsule. Less robust effects were seen with mean diffusivity. Syndrome-specific fractional anisotropy and mean diffusivity differences were most pronounced in patients with hippocampal sclerosis in the ipsilateral parahippocampal cingulum and external capsule, with smaller effects across most other tracts. Those with temporal lobe epilepsy and normal MRI showed a similar pattern of greater ipsilateral than contralateral abnormalities, but less marked than those in patients with hippocampal sclerosis. Patients with generalized and extratemporal epilepsies had pronounced differences in fractional anisotropy in the corpus callosum, corona radiata and external capsule, and in mean diffusivity of the anterior corona radiata. Earlier age of seizure onset and longer disease duration were associated with a greater extent of microstructural abnormalities in patients with hippocampal sclerosis. We demonstrate microstructural abnormalities across major association, commissural, and projection fibers in a large multicentre study of epilepsy. Overall, epilepsy patients showed white matter abnormalities in the corpus callosum, cingulum and external capsule, with differing severity across epilepsy syndromes. These data further define the spectrum of white matter abnormalities in common epilepsy syndromes, yielding new insights into pathological substrates that may be used to guide future therapeutic and genetic studies.
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For further information contact us at helpdesk@openaire.eu6 citations 6 popularity Top 10% influence Average impulse Average Powered by BIP!
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2023MDPI AG CIHR, SFI | Prognostic indicators of ...CIHR ,SFI| Prognostic indicators of critically ill patients with COVID-19: Impact on early immunology and survivalAuthors: Alexis Garduno; Gustavo Sganzerla Martinez; Ali Toloue Ostadgavahi; David Kelvin; +2 AuthorsAlexis Garduno; Gustavo Sganzerla Martinez; Ali Toloue Ostadgavahi; David Kelvin; Rachael Cusack; Ignacio Martin-Loeches;pmid: 36979757
Critically ill COVID-19 patients start developing single respiratory organ failure that often evolves into multiorgan failure. Understanding the immune mechanisms in severe forms of an infectious disease (either critical COVID-19 or bacterial septic shock) would help to achieve a better understanding of the patient’s clinical trajectories and the success of potential therapies. We hypothesized that a dysregulated immune response manifested by the abnormal activation of innate and adaptive immunity might be present depending on the severity of the clinical presentation in both COVID-19 and bacterial sepsis. We found that critically ill COVID-19 patients demonstrated a different clinical endotype that resulted in an inflammatory dysregulation in mild forms of the disease. Mild cases (COVID-19 and bacterial non severe sepsis) showed significant differences in the expression levels of CD8 naïve T cells, CD4 naïve T cells, and CD4 memory T cells. On the other hand, in the severe forms of infection (critical COVID-19 and bacterial septic shock), patients shared immune patterns with upregulated single-cell transcriptome sequencing at the following levels: B cells, monocyte classical, CD4 and CD8 naïve T cells, and natural killers. In conclusion, we identified significant gene expression differences according to the etiology of the infection (COVID-19 or bacterial sepsis) in the mild forms; however, in the severe forms (critical COVID-19 and bacterial septic shock), patients tended to share some of the same immune profiles related to adaptive and innate immune response. Severe forms of the infections were similar independent of the etiology. Our findings might promote the implementation of co-adjuvant therapies and interventions to avoid the development of severe forms of disease that are associated with high mortality rates worldwide.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Conference object 2015 IrelandIEEE SFI | CSET CLARITY: Bringing In...SFI| CSET CLARITY: Bringing Information to LifeDian Zhang; Timothy Sullivan; Noel E. O'Connor; Randy Gillespie; Fiona Regan;Use of visual sensing techniques to detect low visibility conditions may have a number of advantages when combined with other methods, such as satellite based remote sensing, as data can be collected and processed in real or near real time. Camera-enabled visual sensing can provide direct confirmation of modelling and forecasting results. Indeed, fog detection, modelling and prediction are a priority for maritime communities and coastal cities due to economic impacts of fog on aviation, marine, and land transportation. Canadian and Irish coasts are particularly vulnerable to dense fog under certain environmental conditions, and offshore installations related to oil and gas production on the Grand Banks (off the Canadian East Coast) for example can be adversely affected by weather and sea state conditions. In particular, fog can disrupt the transfer of equipment and people to/from the production platforms by helicopter. Such disruptions create delays and the delays cost money. According to offshore oil and gas industry representatives at a recent workshop on metocean monitoring and forecasting for the Newfoundland and Labrador (NL) offshore, there is a real need for improved forecasting of visibility (fog) out to 3 days. The ability to accurately forecast future fog conditions would improve industry's ability to adjust its schedule of operations accordingly. In addition, it was recognised by workshop participants that the physics of the Grand Banks fog formation is not well understood, and that more and better data are needed. In Europe, an EU COST action fog project, with objectives of reducing economic loss and fatalities, has also been created to develop advanced methods for very short-range forecasts of fog and low clouds. Key research objectives of the project included methods for determining the optimal combination of satellite and ground-based observations and measurement techniques of fog. These data were then used to develop estimates of fog risk at high spatial and temporal resolutions, however the focus was on remote satellite observations rather than local visual sensing systems [1].
DCU Online Research ... arrow_drop_down DCU Online Research Access ServiceConference object . 2015Data sources: DCU Online Research Access ServiceDCU Online Research Access ServiceConference object . 2015Data sources: DCU Online Research Access Serviceadd 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.
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For further information contact us at helpdesk@openaire.eu9 citations 9 popularity Top 10% influence Average impulse Average Powered by BIP!
more_vert DCU Online Research ... arrow_drop_down DCU Online Research Access ServiceConference object . 2015Data sources: DCU Online Research Access ServiceDCU Online Research Access ServiceConference object . 2015Data sources: DCU Online Research Access Serviceadd 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020 IrelandMDPI AG SFI | Science of p-type transpa..., SFI | Advanced Materials and Bi...SFI| Science of p-type transparent conducting oxides: materials towards transparent electronics ,SFI| Advanced Materials and BioEngineering Research Centre (AMBER)David Caffrey; Ainur Zhussupbekova; Rajani K. Vijayaraghavan; Ardak Ainabayev; Aitkazy Kaisha; Gulnar Sugurbekova; Igor V. Shvets; Karsten Fleischer;The electronic and optical properties of transparent conducting oxides (TCOs) are closely linked to their crystallographic structure on a macroscopic (grain sizes) and microscopic (bond structure) level. With the increasing drive towards using reduced film thicknesses in devices and growing interest in amorphous TCOs such as n-type InGaZnO 4 (IGZO), ZnSnO 3 (ZTO), p-type Cu x CrO 2 , or ZnRh 2 O 4 , the task of gaining in-depth knowledge on their crystal structure by conventional X-ray diffraction-based measurements are becoming increasingly difficult. We demonstrate the use of a focal shift based background subtraction technique for Raman spectroscopy specifically developed for the case of transparent thin films on amorphous substrates. Using this technique we demonstrate, for a variety of TCOs CuO, a-ZTO, ZnO:Al), how changes in local vibrational modes reflect changes in the composition of the TCO and consequently their electronic properties.
add 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.
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For further information contact us at helpdesk@openaire.eu9 citations 9 popularity Top 10% influence Average impulse Top 10% Powered by BIP!
more_vert add ClaimPlease grant OpenAIRE to access and update your ORCID works.This Research product is the result of merged Research products in OpenAIRE.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article 2020Elsevier BV SFI | Discovery of an integrate..., EC | iPLACENTA, CIHR +1 projectsSFI| Discovery of an integrated risk profile for chronic kidney disease and development of a clinical biomarker panel for personalising medicine ,EC| iPLACENTA ,CIHR ,UKRI| Translating the Resolution of Inflammation: MC3 in human arthritis synoviaCharles N. Serhan; Shailendra K. Gupta; Mauro Perretti; Catherine Godson; Eoin P. Brennan; Yongsheng Li; Oliver Soehnlein; Takao Shimizu; Oliver Werz; Valerio Chiurchiù; Angelo Azzi; Marc Dubourdeau; Suchi Smita Gupta; Patrick Schopohl; Matti Hoch; Dragana Gjorgevikj; Faiz M. Khan; David Brauer; Anurag Tripathi; Konstantin Cesnulevicius; David Lescheid; Myron Schultz; Eva Särndahl; Dirk Repsilber; Robert Kruse; Angelo Sala; Jesper Z. Haeggström; Bruce D. Levy; János G. Filep; Olaf Wolkenhauer;pmid: 32873427
The Publisher regrets that this article is an accidental duplication of an article that has already been published, https://doi.org/10.1016/j.mam.2020.100894. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
Molecular Aspects of... arrow_drop_down add 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.mam.2020.100893&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu2 citations 2 popularity Average influence Average impulse Average Powered by BIP!
more_vert Molecular Aspects of... arrow_drop_down add 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.mam.2020.100893&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Preprint , Article 2022Cold Spring Harbor Laboratory WT | The mechanisms that induc..., NIH | Phylogenomic Studies on t..., NSF | EDGE CT: Enabling cell-sp... +1 projectsWT| The mechanisms that induce dedifferentiation to drive regeneration in the absence of stem cells ,NIH| Phylogenomic Studies on the Evolution of Morphological Complexity ,NSF| EDGE CT: Enabling cell-specific functional genomics in a colonial animal ,SFI| SFI Centre for Research Training in Genomics Data ScienceMiguel Salinas-Saavedra; null Febrimarsa; Gabriel Krasovec; Helen R Horkan; Andreas D Baxevanis; Uri Frank;SUMMARYCell fate stability is essential to maintaining ‘law and order’ in complex animals. However, high stability comes at the cost of reduced plasticity and, by extension, poor regenerative ability. This evolutionary trade-off has resulted in most modern animals being rather simple and regenerative or complex and non-regenerative. The mechanisms mediating cellular plasticity and allowing for regeneration remain unknown. We show that signals emitted by senescent cells can destabilize the differentiated state of neighboring somatic cells, reprogramming them into stem cells that are capable of driving whole-body regeneration in the cnidarian Hydractinia symbiolongicarpus. Pharmacological or genetic inhibition of senescence prevented reprogramming and regeneration. Conversely, induction of transient ectopic senescence in a regenerative context resulted in supernumerary stem cells and faster regeneration. We propose that senescence signaling is an ancient mechanism mediating cellular plasticity. Understanding the senescence environment that promotes cellular reprogramming could provide a new avenue to enhance regeneration.
add 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.
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For further information contact us at helpdesk@openaire.eu2 citations 2 popularity Average influence Average impulse Average Powered by BIP!
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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.
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description Publicationkeyboard_double_arrow_right Article 2017 United Kingdom, Ireland, United States, Finland, NorwaySpringer Science and Business Media LLC SFI | Gene discovery in schizop..., CIHR, NIH | CARDIOVASCULAR HEALTH STU... +47 projectsSFI| Gene discovery in schizophrenia using family-based sequencing methods ,CIHR ,NIH| CARDIOVASCULAR HEALTH STUDY--ECHOCARDIOGRAPHY ,NIH| SIBLING MODELS OF ADOLESCENT ALCOHOL USE AND ABUSE ,UKRI| A genome-wide association study of non-pathological cognitive ageing ,NIH| Exceptional aging: 12 year trajectories to function ,NIH| Substance Abuse &Behavioral Disinhibition: Integrating Genes &Environment ,NIH| Human Translational Applications Core (HTA - Core) (7 of 8) ,NIH| Twin Family Study of Vulnerability to Substance Abuse ,NIH| CHS-Transition Phase -268055222 ,NIH| Response Inhibition and Dopamine Neurotransmission (RI) (4 of 8) ,NIH| Twin Study of ADHD, CD and Substance Abuse ,NIH| Neurogenetic Pathways to Drug Use in Young Adults ,NIH| CHS Events Follow-up Study ,NIH| Translational Methods/Facilities Core (TMF - Core) (8 of 8) ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Striatal D2/D3 Dopamine receptor availability in first episode schizophrenia ,NIH| A Longitudinal Study of Adopted Youth and Their Families ,NIH| Neurodevelopmental Genomics: Trajectories of Complex Phenotypes ,WT ,NIH| CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84 ,NIH| Identification of genetic determinants of schizophrenia related phenotypes ,NIH| CHS RETINAL READING CENTER ,NIH| Influence of Psychosis on Brain-Behavior Endophenotypes for Bipolar Disorder ,NIH| 2/2 Neurodevelopmental Genomics: Trajectories of Complex Phenotypes ,SFI| Genes to Biology: A Translational Pipeline for Schizophrenia ,NIH| Consortium for Neuropsychiatric Phenomics-Coordinating Center (1 of 8) ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| CTSA INFRASTRUCTURE FOR AIDS RESEARCH ,NIH| UCLA Clinical and Translational Science Institute ,UKRI| Centre for Cognitive Ageing & Cognitive Epidemiology ,NIH| Memory Mechanisms and Mental Disorders ,NIH| Genetics of Normal Human Variation: Implications for Disease ,NIH| CORONARY HEART DISEASE AND STROKE IN PEOPLE AGED 65-84 ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,SFI| Characterising the neural basis of social cognition deficits in schizophrenia using imaging genetics ,NIH| CHS-ULTRASOUND READING ,NIH| Neural signatures of healthy and unhealthy aging ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NIH| Neurocognition as an endophenotype in bipolar disorder ,NIH| MRI READING CENTER FOR THE CARDIOVASCULAR HEALTH STUDY ,NIH| Adolescent drinking and midlife outcomes: A prospective cotwin control study ,NIH| 1/2 Schizophrenia Heterogeneity and Toxoplasma Exposure ,NIH| Evolutionary Roles of Homozygosity & Copy Number Variation in Mental Disorders ,NIH| Diabetes Endocrinology Research Center ,NIH| Genetic Variation and Functional Disability in SchizophreniaJoey W. Trampush; M. L. Z. Yang; Jin Yu; Emma Knowles; Gary Davies; David C. Liewald; John M. Starr; Srdjan Djurovic; Ingrid Melle; Kjetil Sundet; Andrea Christoforou; Ivar Reinvang; Pamela DeRosse; Astri J. Lundervold; Vidar M. Steen; Thomas Espeseth; Katri Räikkönen; Elisabeth Widen; Aarno Palotie; Johan G. Eriksson; Ina Giegling; Bettina Konte; Panos Roussos; Stella G. Giakoumaki; Katherine E. Burdick; Antony Payton; William E R Ollier; Michael A Horan; Ornit Chiba-Falek; Deborah K. Attix; Anna C. Need; Elizabeth T. Cirulli; Aristotle N. Voineskos; Nicholas C. Stefanis; Dimitrios Avramopoulos; Alex Hatzimanolis; Dan E. Arking; Nikolaos Smyrnis; Robert M. Bilder; Nelson A. Freimer; Tyrone D. Cannon; Edythe D. London; Russell A. Poldrack; Fred W. Sabb; Eliza Congdon; Emily Drabant Conley; Matthew A. Scult; Dwight Dickinson; Richard E. Straub; Gary Donohoe; Derek W. Morris; Aiden Corvin; M. Gill; Ahmad R. Hariri; Daniel R. Weinberger; Neil Pendleton; Panos Bitsios; Dan Rujescu; Jari Lahti; S. Le Hellard; Matthew C. Keller; Ole A. Andreassen; Ian J. Deary; David C. Glahn; Anil K. Malhotra; Todd Lencz;pmc: PMC5322272 , PMC5659072
Abstract The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (~8M single-nucleotide polymorphisms (SNP) with minor allele frequency ⩾1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT). In addition, we utilized individual SNP lookups and polygenic score analyses to identify genetic overlap with other relevant neurobehavioral phenotypes. Our primary GWAS meta-analysis identified two novel SNP loci (top SNPs: rs76114856 in the CENPO gene on chromosome 2 and rs6669072 near LOC105378853 on chromosome 1) associated with cognitive performance at the genome-wide significance level (P<5 × 10−8). Gene-based analysis identified an additional three Bonferroni-corrected significant loci at chromosomes 17q21.31, 17p13.1 and 1p13.3. Altogether, common variation across the genome resulted in a conservatively estimated SNP heritability of 21.5% (s.e.=0.01%) for general cognitive function. Integration with prior GWAS of cognitive performance and educational attainment yielded several additional significant loci. Finally, we found robust polygenic correlations between cognitive performance and educational attainment, several psychiatric disorders, birth length/weight and smoking behavior, as well as a novel genetic association to the personality trait of openness. These data provide new insight into the genetics of neurocognitive function with relevance to understanding the pathophysiology of neuropsychiatric illness.
The University of Ma... arrow_drop_down The University of Manchester - Institutional RepositoryArticle . 2017Data sources: The University of Manchester - Institutional RepositorySpiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital Repository