description Publicationkeyboard_double_arrow_right Article 2018 Netherlands, France, France, France, Finland, FranceSpringer Science and Business Media LLC NIH | Alzheimer Disease Genetic..., NIH | Alzheimer's Disease Genet..., FWF | Mechanisms of Small Vesse... +56 projectsNIH| Alzheimer Disease Genetic Architecture in African Americans ,NIH| Alzheimer's Disease Genetics Consortium ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,NIH| Genomic and Biological Studies of APOE ?2 in Alzheimer Disease ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| Genomes and Genetics at the BCM-HGSC ,NIH| CHS-Transition Phase -268055222 ,NIH| Genetic Epidemiology of Cerebrovascular Factors in Alzheimer's Disease ,NIH| Alzheimer's Disease Patient Registry (ADPR/ACT) ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| COGNITIVE TESTS, APOE, BRAIN MRI AND RISKS OF DEMENTIA ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,FWF| Genetics of Cerebral Small Vessel Disease ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| PRECURSORS OF STROKE INCIDENCE AND PROGNOSIS ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NWO| Sustainable ammonia synthesis powered by renewable electricity ,NIH| ARIC Neurocognitive Study (ARIC-NCS) 1 of 5 ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| Neurogenesis in Adult Brain: Gene Networks and Alzheimer?s Disease ,NIH| Large Scale Sequencing and Analysis of Genomes ,NIH| ARIC Neurocognitive Study (ARIC-NCS) Renewal 2 of 5 ,NIH| CHS Events Follow-up Study ,NIH| Building on GWAS for NHLBI-disease: the CHARGE consortium ,NIH| THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE ,NIH| Alzheimer's Disease Genetics Consortium ,EC| JPco-fuND ,NIH| CHS research resources for the cardiovascular health of older adults ,AKA| Deciphering the novel Alzheimer’s disease-associated targets in synaptic dysfunction ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| Consortium for Alzheimers Sequence Analysis (CASA) ,NIH| Identification and characterization of AD risk networks using multi-dimensional 'omics' data ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Genetic Studies of Alzheimer's Disease in Caribbean Hispanics ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| MRI, Cognitive, Genetic and Biomarker Precursors of AD & Dementia in Young Adults ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Replication and Extension of ADSP Discoveries in African-Americans ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems ,NIH| Large Scale Genome Sequencing ,NIH| Temporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham Cohorts ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,NIH| Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD) ,NIH| Modifier Genes that Influence Age at Onset or Protect Against Development of Alzheimer's Disease (AD) ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Integrating Neuroimaging, Multi-omics, and Clinical Data in Complex Disease ,ANR| GENMED ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| Preclinical AD: Correlates of Amyloid, Tau PET and fcMRI in Framingham Gen 3 Young Adults ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,EC| ENGAGE ,NIH| Exceptional aging: 12 year trajectories to functionJoshua C. Bis; Xueqiu Jian; Brian W. Kunkle; Yuning Chen; Kara L. Hamilton-Nelson; William S. Bush; William J Salerno; Daniel Lancour; Yiyi Ma; Alan E. Renton; Edoardo Marcora; John J. Farrell; Yi Zhao; Liming Qu; Shahzad Ahmad; Najaf Amin; Philippe Amouyel; Gary W. Beecham; Jennifer E. Below; Dominique Campion; Laura B. Cantwell; Camille Charbonnier; Jaeyoon Chung; Paul K. Crane; Carlos Cruchaga; L. Adrienne Cupples; Jean-François Dartigues; Stéphanie Debette; Jean-François Deleuze; Lucinda Fulton; Stacey Gabriel; Emmanuelle Génin; Richard A. Gibbs; Alison Goate; Benjamin Grenier-Boley; Namrata Gupta; Jonathan L. Haines; Aki S. Havulinna; Seppo Helisalmi; Mikko Hiltunen; Daniel P. Howrigan; M. Arfan Ikram; Jaakko Kaprio; Jan Konrad; Amanda B. Kuzma; Eric S. Lander; Mark Lathrop; Terho Lehtimäki; Honghuang Lin; Kari Mattila; Richard Mayeux; Donna M. Muzny; Waleed Nasser; Benjamin M. Neale; Kwangsik Nho; Gaël Nicolas; Devanshi Patel; Margaret A. Pericak-Vance; Markus Perola; Bruce M. Psaty; Olivier Quenez; Farid Rajabli; Richard Redon; Christiane Reitz; Anne M. Remes; Veikko Salomaa; Chloé Sarnowski; Helena Schmidt; Michael A. Schmidt; Reinhold Schmidt; Hilkka Soininen; Timothy A. Thornton; Giuseppe Tosto; Christophe Tzourio; Sven J. van der Lee; Cornelia M. van Duijn; Otto Valladares; Badri N. Vardarajan; Li-San Wang; Weixin Wang; Ellen M. Wijsman; Richard K. Wilson; Daniela Witten; Kim C. Worley; Xiaoling Zhang; Alzheimer’s Disease Sequencing; Céline Bellenguez; Jean-Charles Lambert; Mitja I. Kurki; Aarno Palotie; Mark J. Daly; Eric Boerwinkle; Kathryn L. Lunetta; Anita L. DeStefano; Josée Dupuis; Eden R. Martin; Gerard D. Schellenberg; Sudha Seshadri; Adam C. Naj; Myriam Fornage; Lindsay A. Farrer;pmc: PMC7387240 , PMC6375806
AbstractThe Alzheimer’s Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with genome-wide genotyping imputed to the Haplotype Reference Consortium panel (9,343 cases, 11,527 controls). The top findings in the discovery sample were also followed-up in the ADSP whole-genome sequenced family-based dataset (197 members of 42 EA families and 501 members of 157 CH families). We identified novel and predicted functional genetic variants in genes previously associated with AD. We also detected associations in three novel genes: IGHG3 (p = 9.8 × 10−7), an immunoglobulin gene whose antibodies interact with β-amyloid, a long non-coding RNA AC099552.4 (p = 1.2 × 10−7), and a zinc-finger protein ZNF655 (gene-based p = 5.0 × 10−6). The latter two suggest an important role for transcriptional regulation in AD pathogenesis.
NARCIS arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2020Data 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.
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For further information contact us at helpdesk@openaire.eu202 citations 202 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 30visibility views 30 download downloads 67 Powered bymore_vert NARCIS arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2020Data 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2016 Germany, Ireland, United Kingdom, Netherlands, Italy, Spain, United Kingdom, France, France, France, United Kingdom, France, France, France, United Kingdom, United Kingdom, France, IrelandSpringer Science and Business Media LLC EC | NEUROSCHEMA, NIH | The ARIC and Neurocogniti..., NIH | Functional genomics of bi... +110 projectsEC| NEUROSCHEMA ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NIH| Functional genomics of bipolar disorder ,NIH| OBESITY, DIABETES &AGING ANIMAL RESOURCE ,NIH| Genotypic Determinants of Aspirin Response in High-Risk ,NHMRC| Cerebrovascular diseases and Brain Ageing – a program of research into novel mechanisms, risk prevention and innovative health care delivery ,NHMRC| The Older Australian Twins Study (OATS) of healthy brain ageing and age-related neurocognitive disorders ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| AGES STUDY-THE REYKJAVIK STUDY OF HEALTHY AGING FOR THE NEW MILLENNIUM-260012100 ,NIH| ENIGMA Center for Worldwide Medicine, Imaging & Genomics ,NIH| UCLA Clinical and Translational Science Institute ,NIH| HARDI Mapping of Disease Effects on the Brain ,NIH| Predicting Brain Changes in HIV/AIDS ,NSF| MRI: Acquisition of a Data Analytics Cluster for Computational Social Science ,NIH| CHS-Transition Phase -268055222 ,NIH| Searching for Endophenotypes of Bipolar Disorder ,NIH| Alzheimer's Disease Genetics Consortium ,EC| ORACLE ,NWO| Twin-family database for behavior genetics and genomics studies ,NWO| Networking through ADHD biology ,NIH| Alzheimer's Disease Genetics Consortium ,NIH| Empowering Personalized Medicine: Integrating Imaging, Genetics, and Biomarkers ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,WT| Genome-wide association studies in partial epilepsies. ,EC| MiND ,EC| TACTICS ,WT| Stratifying Resilience and Depression Longitudinally (STRADL) ,NIH| Risk Factors, Pathology, and Clinical Expressions of AD ,NIH| CHS Events Follow-up Study ,NIH| From GWAS loci to blood pressure genes, variants & mechanisms ,NIH| Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and Blood ,NIH| Genetic Epidemiology of Cognitive Decline in an Aging Population Sample ,NIH| An Integrated Genetic and Epigenetic Approach to Cerebral Small Vessel Disease ,NIH| Occult Small Vessel Cerebrovascular Disease in High Risk Families ,NHMRC| Type 2 Diabetes Mellitus and Cognitive Decline - a longitudinal study of effects and mechanisms ,NHMRC| The prevention, early detection, & effective management of neurocognitive disorders in the elderly ,EC| EU-AIMS ,NHMRC| Gene-environment interaction in healthy brain ageing and age related neurodegeneration ,EC| MATRICS ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,NIH| Prospective meta-analyses of drug-gene interactions: CHARGE GWAS consortium ,NHMRC| Prevention, early detection and effective management of neurocognitive disorders in the elderly ,NIH| GCRC-RENOVATION ,NIH| Epidemiologic Study of Neural Reserve and Neurobiology of Aging ,NIH| International Multi-Center ADHD Genetics Project ,NHMRC| A population-based study of cerebrovascular mechanisms underyling gait, balance and cognition in older people ,NIH| Exceptional aging: 12 year trajectories to function ,NWO| From genetic pathways to cognition in ADHD: a question of the right connections? ,NHMRC| Advancing our understanding of the genetics of Psychiatric and Neurological Disease ,EC| PHASE ,NIH| Hormonal trajectories in aging ,NIH| Using Genetics to Dissect Schizhoprenia, Bipolar Disorder, and Depression ,NIH| Major Depression: Stage 1 Genomewide Association in Population-Based Samples ,NIH| Role of Mitochondrial Health in Acute and Chronic Kidney Disease in Older Adults ,CIHR ,NHMRC| Genetics of brain structure and function ,NIH| Epidemiology of Biomarkers of Risk and Progression in LOAD ,NIH| Institute for Clinical and Translational Research (UL1) ,NIH| Laboratory of Neuro Imaging Resource (LONIR) ,NHMRC| Australian Twin Registry ,NWO| NCHA Subsidiebesluit 2008-2012 ,ARC| The articulate brain ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,NIH| Genomic Studies of Bipolar Disorder in a Large Cohort from The Netherlands ,NWO| Neuro-imaging study in twins concordant or discordant for obsessive-compulsive symptoms. ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,NHMRC| Genetics of melanoma risk factors ,NIH| Structural Brain Abnormalities In Depression ,NIH| COGNITIVE TESTS, APOE, BRAIN MRI AND RISKS OF DEMENTIA ,NIH| CYCLINS AND CHEMICAL CARCINOGENESIS ,EC| IMAGEMEND ,NIH| Alzheimer's disease risk analyzed using population imaging genomics ,NHMRC| Prevention and management of mental disorders in older Australians ,NIH| Functional Neuroimaging In Unipolar And Bipolar Depresse ,NIH| GWA for Gene-Environment Interaction Effects Influencing CHD ,NIH| MOLECULAR AND BIOCHEMICAL GENETICS LABORATORY RENOVATION ,NIH| Risk Factors, Pathology, and Clinical Expressions of AD ,NIH| Dimensional Neurogenetic Markers of Limbic System Integrity & Psychiatric Illness ,NHMRC| Development and Evaluation of Statistical Methods and Software for Analysis of Complex Genetic Disease Data ,NIH| CHS research resources for the cardiovascular health of older adults ,WT| A Powerful, Genome-Wide Association Scan for Susceptibility Genes for late-onset Alzheimer's disease ,NHMRC| Genetic Repositories Australia ,NIH| Genetic Influences on Human Cortical Development ,NIH| Epidemiology of Venous Thrombosis &Pulmonary Embolism ,NIH| SHORT-TERM STABILITY OF CLINICAL TESTS ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,ARC| Elucidating the genetics of attention deficit hyperactivity disorder by integrating pathway and prediction analyses ,SFI| The application of MRI to identify endophenotypes in focal epilepsy ,NWO| Functional neural network plasticity in adolescent twins and sibs ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Vascular Cognitive and Motor Decline: Impact of aPL ,NIH| Research and Mentoring on Integrating Psychiatric Genetics and Neuroscience ,EC| ENGAGE ,NIH| Genetic influences on the brain: A twin imaging study ,NIH| Rare variants and NHLBI traits in deeply phenotyped cohorts ,NIH| Genomics of Developmental Trajectories in Twins ,NIH| Neuroimaging genetics to study social cognitive deficits in ASD and schizophrenia ,NIH| WGA Study to Identify Genetic Variants Associated with CV Events in CHS ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,EC| AGGRESSOTYPE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,UKRI| Centre for Cognitive Ageing & Cognitive Epidemiology ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| EXTRAMULAR RESEARCH FACILITIES CONSTRUCTION ,NIH| Genetic Influences on Human Neuroanatomical Shapes ,NIH| Neurodevelopment and Imaging among HIV-infected Children from the PREDICT study ,NIH| RISK FACTORS FOR INCIDENT AD IN A BIRACIAL COMMUNITY ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,EC| GMI ,NIH| Alzheimers Disease Neuroimaging Initiative ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Integration of Genomics &Transcriptomics in Normal Twins &Major Depression ,NIH| CORONARY HEART DISEASE AND STROKEHieab H.H. Adams; Vincent Chouraki; Jason L. Stein; Miguel E. Rentería; Stella Trompet; Alejandro Arias-Vasquez; Sudha Seshadri; Sylvane Desrivières; Sven J. van der Lee; Najaf Amin; Micael Andersson; Konstantinos Arfanakis; Benjamin S. Aribisala; Nicola J. Armstrong; Alexa S. Beiser; Manon Bernard; Susan H. Blanton; Marco P. Boks; Janita Bralten; Owen Carmichael; Ganesh Chauhan; Qiang Chen; Gabriel Cuellar-Partida; Anouk den Braber; Stefan Ehrlich; Irina Filippi; Tian Ge; Rebecca F. Gottesman; Corina U. Greven; Tulio Guadalupe; Unn K. Haukvik; Saima Hilal; D. Hoehn; Tianye Jia; Marieke Klein; Phil H. Lee; David C. Liewald; Lorna M. Lopez; Michelle Luciano; Christine Macare; Andre F. Marquand; Karen A. Mather; Manuel Mattheisen; Bernard Mazoyer; Rebekah McWhirter; Yuri Milaneschi; Nazanin Mirza-Schreiber; Ryan L. Muetzel; Susana Muñoz Maniega; Kwangsik Nho; Loes M. Olde Loohuis; Jaap Oosterlaan; Irene Pappa; Lukas Pirpamer; Sara Pudas; Adaikalavan Ramasamy; Jennifer S. Richards; Shannon L. Risacher; Roberto Roiz-Santiañez; Nanda Rommelse; Emma J. Rose; Claudia L. Satizabal; Lianne Schmaal; Li Shen; Jean Shin; Albert V. Smith; Emma Sprooten; Lachlan T. Strike; Alexander Teumer; Russell Thomson; Diana Tordesillas-Gutiérrez; Roberto Toro; Daniah Trabzuni; Dhananjay Vaidya; Jeroen van der Grond; Dennis van der Meer; Marjolein M. J. Van Donkelaar; Kristel R. van Eijk; Theo G.M. van Erp; Esther Walton; Lars T. Westlye; Christopher D. Whelan; Beverly G Windham; Anderson M. Winkler; Girma Woldehawariat; Christiane Wolf; Thomas Wolfers; Bing Xu; Ingrid Agartz; David Ames; Philippe Amouyel; Ole A. Andreassen; Sampath Arepalli; Mark E. Bastin; Diane M. Becker; James T. Becker; John Blangero; Hans van Bokhoven; Dorret I. Boomsma; Henry Brodaty; Rachel M. Brouwer; Randy L. Buckner; Vince D. Calhoun; Dara M. Cannon; Gianpiero L. Cavalleri; Christopher Chen; Ching-Yu Cheng; Sven Cichon; Mark R. Cookson; Aiden Corvin; Benedicto Crespo-Facorro; Joanne E. Curran; Michael Czisch; Gareth E. Davies; Eco J. C. de Geus; Greig I. Zubicaray; Anita L. DeStefano; Srdjan Djurovic; Gary Donohoe; Wayne C. Drevets; Thomas D. Dyer; Susanne Erk; Thomas Espeseth; Denis A. Evans; Iryna O. Fedko; Simon E. Fisher; Debra A. Fleischman; Clyde Francks; Masaki Fukunaga; J. Raphael Gibbs; Randy L. Gollub; Harald H H Göring; Hans J. Grabe; Robert C. Green; Oliver Gruber; Vilmundur Gudnason; Narelle K. Hansell; John Hardy; Ryota Hashimoto; Andreas Heinz; Stephanie Le Hellard; Dirk J. Heslenfeld; Beng-Choon Ho; Wolfgang Hoffmann; Albert Hofman; Florian Holsboer; Georg Homuth; Hilleke E. Hulshoff Pol; M. Kamran Ikram; Clifford R. Jack; Mark Jenkinson; Robert Johnson; Erik G. Jönsson; J. Wouter Jukema; David S. Knopman; Peter Kochunov; Stephen M. Lawrie; Herve Lemaitre; Dan L. Longo; W.T. Longstreth; Oscar L. Lopez; Simon Lovestone; Jean-Luc Martinot; Colm McDonald; Andrew M. McIntosh; Katie L. McMahon; Francis J. McMahon; Patrizia Mecocci; Ingrid Melle; Andreas Meyer-Lindenberg; Sebastian Mohnke; Derek W. Morris; Thomas H. Mosley; Thomas W. Mühleisen; Thomas E. Nichols; Wiro J. Niessen; Markus M. Nöthen; Lars Nyberg; Kazutaka Ohi; Roel A. Ophoff; Massimo Pandolfo; G. Bruce Pike; Bruce M. Psaty; Marcella Rietschel; Joshua L. Roffman; Nina Romanczuk-Seiferth; Mina Ryten; Ralph L. Sacco; Perminder S. Sachdev; Andrew J. Saykin; Reinhold Schmidt; Peter R. Schofield; Andrew Singleton; Hilkka Soininen; Velandai Srikanth; Jessika E. Sussmann; Anbupalam Thalamuthu; Henning Tiemeier; Arthur W. Toga; Bryan J. Traynor; Juan C. Troncoso; Jessica A. Turner; Christophe Tzourio; André G. Uitterlinden; Aad van der Lugt; Nic J A van der Wee; Cornelia M. van Duijn; Dennis van 't Ent; Marie-José van Tol; Badri N. Vardarajan; Dick J. Veltman; Meike W. Vernooij; Henry Völzke; Henrik Walter; Joanna M. Wardlaw; Thomas H. Wassink; Michael E. Weale; Daniel R. Weinberger; Wei Wen; Eric Westman; Tonya White; Tien Yin Wong; H. Ronald Zielke; Alan B. Zonderman; Ian J. Deary; Nicholas G. Martin; Anton J. M. de Craen; Margaret J. Wright; Lenore J. Launer; Gunter Schumann; Barbara Franke; Stéphanie Debette; Sarah E. Medland; Paul M. Thompson;pmid: 27694991
pmc: PMC5227112
handle: 1871.1/e355ae09-2997-486e-98e5-c8968be7f4c4 , 10902/16311 , 11858/00-001M-0000-002B-7F28-6 , 11858/00-001M-0000-002C-2A97-4 , 2066/165723 , 11370/f227c90a-5d2a-41c8-a65b-5cb41250ef07 , 1887/112477 , 1983/ea8a2fa3-e92b-41d9-9147-c1b24d8515c3 , 11391/1406555 , 20.500.11820/cef4fd4e-02ab-4e12-8153-a6de64660b4d , 1874/343369
pmid: 27694991
pmc: PMC5227112
handle: 1871.1/e355ae09-2997-486e-98e5-c8968be7f4c4 , 10902/16311 , 11858/00-001M-0000-002B-7F28-6 , 11858/00-001M-0000-002C-2A97-4 , 2066/165723 , 11370/f227c90a-5d2a-41c8-a65b-5cb41250ef07 , 1887/112477 , 1983/ea8a2fa3-e92b-41d9-9147-c1b24d8515c3 , 11391/1406555 , 20.500.11820/cef4fd4e-02ab-4e12-8153-a6de64660b4d , 1874/343369
Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (rhogenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits. Contains fulltext : 165723pub.pdf (Publisher’s version ) (Closed access)
CORE (RIOXX-UK Aggre... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2016Data sources: Maynooth University ePrints & eTheses ArchiveOxford University Research ArchiveOther literature type . 2017Data sources: Oxford University Research ArchiveRecolector de Ciencia Abierta, RECOLECTA; UCreaArticle . 2019 . 2016Spiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryMETIS Research Information System; Nature Neuroscience; NARCIS; PURE Aarhus UniversityArticle . 2016License: Springer TDMNARCIS; Nature NeuroscienceArticle . 2016LUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2016NARCIS; Nature NeuroscienceArticle . 2016add 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.eu198 citations 198 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 141visibility views 141 download downloads 458 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2016Data sources: Maynooth University ePrints & eTheses ArchiveOxford University Research ArchiveOther literature type . 2017Data sources: Oxford University Research ArchiveRecolector de Ciencia Abierta, RECOLECTA; UCreaArticle . 2019 . 2016Spiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryMETIS Research Information System; Nature Neuroscience; NARCIS; PURE Aarhus UniversityArticle . 2016License: Springer TDMNARCIS; Nature NeuroscienceArticle . 2016LUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2016NARCIS; Nature NeuroscienceArticle . 2016add 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 Other literature type , Article 2020 GermanyCopernicus GmbH EC | QA4ECV, FWF | Vienna horizontal and ver...EC| QA4ECV ,FWF| Vienna horizontal and vertical distribution observations of nitrogen dioxide and aerosolsS. Donner; J. Kuhn; J. Kuhn; M. Van Roozendael; A. Bais; S. Beirle; T. Bösch; K. Bognar; I. Bruchkouski; K. L. Chan; S. Dörner; T. Drosoglou; C. Fayt; U. Frieß; F. Hendrick; C. Hermans; J. Jin; A. Li; J. Ma; E. Peters; E. Peters; G. Pinardi; A. Richter; S. F. Schreier; A. Seyler; K. Strong; J.-L. Tirpitz; Y. Wang; P. Xie; J. Xu; X. Zhao; X. Zhao; T. Wagner;We present different methods for in-field elevation calibration of MAX-DOAS (Multi AXis Differential Optical Absorption Spectroscopy) instruments that were applied and inter-compared during the second Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI-2). One necessary prerequisite of consistent MAX-DOAS retrievals is a precise and accurate calibration of the elevation angles of the different measuring systems. Therefore, different methods for this calibration were applied to several instruments during the campaign, and the results were inter-compared. This work first introduces and explains the different methods, namely far- and near-lamp measurements, white-stripe scans, horizon scans and sun scans, using data and results for only one (mainly the Max Planck Institute for Chemistry) instrument. In the second part, the far-lamp measurements and the horizon scans are examined for all participating groups. Here, the results for both methods are first inter-compared for the different instruments; secondly, the two methods are compared amongst each other. All methods turned out to be well-suited for the calibration of the elevation angles of MAX-DOAS systems, with each of them having individual advantages and drawbacks. Considering the results of this study, the systematic uncertainties of the methods can be estimated as ±0.05∘ for the far-lamp measurements and the sun scans, ±0.25∘ for the horizon scans, and around ±0.1∘ for the white-stripe and near-lamp measurements. When comparing the results of far-lamp and horizon-scan measurements, a spread of around 0.9∘ in the elevation calibrations is found between the participating instruments for both methods. This spread is of the order of a typical field of view (FOV) of a MAX-DOAS instrument and therefore affecting the retrieval results. Further, consistent (wavelength dependent) offsets of 0.32∘ and 0.40∘ between far-lamp measurements and horizon scans are found, which can be explained by the fact that, despite the flat topography around the measurement site, obstacles such as trees might mark the visible horizon during daytime. The observed wavelength dependence can be explained by surface albedo effects. Lastly, the results are discussed and recommendations for future campaigns are given.
DLR publication serv... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2020Data sources: Copernicus Publicationsadd 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.eu9 citations 9 popularity Top 10% influence Average impulse Top 10% Powered by BIP!more_vert DLR publication serv... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2020Data sources: Copernicus Publicationsadd 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 2020Copernicus GmbH EC | ACTRIS-2, EC | QA4ECV, FWF | Vienna horizontal and ver...EC| ACTRIS-2 ,EC| QA4ECV ,FWF| Vienna horizontal and vertical distribution observations of nitrogen dioxide and aerosolsKarin Kreher; Michel Van Roozendael; François Hendrick; Arnoud Apituley; Ermioni Dimitropoulou; Udo Frieß; Andreas Richter; Thomas Wagner; Johannes Lampel; Nader Abuhassan; Li Ang; Monica Anguas; Alkis Bais; Nuria Benavent; Tim Bösch; Kristof Bognar; Alexander N. Borovski; Ilya Bruchkouski; Alexander Cede; Kalok Chan; Sebastian Donner; Theano Drosoglou; Caroline Fayt; Henning Finkenzeller; David Garcia-Nieto; Clio Gielen; Laura Gómez-Martín; Nan Hao; Bas Henzing; Jay R. Herman; Christian Hermans; Syedul Hoque; Hitoshi Irie; Junli Jin; Paul Johnston; Junaid Khayyam Butt; Fahim Khokhar; Theodore K. Koenig; Jonas Kuhn; Vinod Kumar; Cheng Liu; Jianzhong Ma; Alexis Merlaud; Abhishek Kumar Mishra; Moritz Müller; Mónica Navarro-Comas; Mareike Ostendorf; Andrea Pazmino; Enno Peters; Gaia Pinardi; Manuel Pinharanda; Ankie Piters; Ulrich Platt; Oleg Postylyakov; C. Prados-Roman; Olga Puentedura; Richard Querel; Alfonso Saiz-Lopez; Anja Schönhardt; Stefan F. Schreier; André Seyler; Vinayak Sinha; Elena Spinei; Kimberly Strong; Frederik Tack; Xin Tian; Martin Tiefengraber; Jan-Lukas Tirpitz; Jeroen van Gent; Rainer Volkamer; Mihalis Vrekoussis; Shanshan Wang; Zhuoru Wang; Mark Wenig; Folkard Wittrock; Pinhua H. Xie; Jin Xu; Margarita Yela; Chengxin Zhang; Xiaoyi Zhao;Abstract. In September 2016, 36 spectrometers from 24 institutes measured a number of key atmospheric pollutants for a period of 17 d during the Second Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI-2) that took place at Cabauw, the Netherlands (51.97∘ N, 4.93∘ E). We report on the outcome of the formal semi-blind intercomparison exercise, which was held under the umbrella of the Network for the Detection of Atmospheric Composition Change (NDACC) and the European Space Agency (ESA). The three major goals of CINDI-2 were (1) to characterise and better understand the differences between a large number of multi-axis differential optical absorption spectroscopy (MAX-DOAS) and zenith-sky DOAS instruments and analysis methods, (2) to define a robust methodology for performance assessment of all participating instruments, and (3) to contribute to a harmonisation of the measurement settings and retrieval methods. This, in turn, creates the capability to produce consistent high-quality ground-based data sets, which are an essential requirement to generate reliable long-term measurement time series suitable for trend analysis and satellite data validation. The data products investigated during the semi-blind intercomparison are slant columns of nitrogen dioxide (NO2), the oxygen collision complex (O4) and ozone (O3) measured in the UV and visible wavelength region, formaldehyde (HCHO) in the UV spectral region, and NO2 in an additional (smaller) wavelength range in the visible region. The campaign design and implementation processes are discussed in detail including the measurement protocol, calibration procedures and slant column retrieval settings. Strong emphasis was put on the careful alignment and synchronisation of the measurement systems, resulting in a unique set of measurements made under highly comparable air mass conditions. The CINDI-2 data sets were investigated using a regression analysis of the slant columns measured by each instrument and for each of the target data products. The slope and intercept of the regression analysis respectively quantify the mean systematic bias and offset of the individual data sets against the selected reference (which is obtained from the median of either all data sets or a subset), and the rms error provides an estimate of the measurement noise or dispersion. These three criteria are examined and for each of the parameters and each of the data products, performance thresholds are set and applied to all the measurements. The approach presented here has been developed based on heritage from previous intercomparison exercises. It introduces a quantitative assessment of the consistency between all the participating instruments for the MAX-DOAS and zenith-sky DOAS techniques.
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.eu58 citations 58 popularity Top 1% influence Top 10% impulse Top 1% 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 , Other literature type 2021 Netherlands, Belgium, Italy, Italy, Italy, Italy, United Kingdom, Italy, Italy, Italy, Italy, United Kingdom, Italy, Italy, Italy, Italy, Italy, Turkey, FinlandAmerican Medical Association (AMA) NIH | Coordinating Center for G..., FWF | Genetics of Cerebral Smal..., NWO | NCHA Subsidiebesluit 2008... +47 projectsNIH| Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD) ,FWF| Genetics of Cerebral Small Vessel Disease ,NWO| NCHA Subsidiebesluit 2008-2012 ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| Genomes and Genetics at the BCM-HGSC ,NIH| CHS-Transition Phase -268055222 ,NIH| Genetic Discovery and Pathobiology of Frontotemporal Lobar Degeneration and Related TDP-43 Proteinopathies ,NIH| THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE ,UKRI| JPND Biological Resource Analysis to Identify New MEchanisms and phenotypes in Neurodegenerative Diseases (BRAIN-MEND) ,NHMRC| Unravelling the molecular basis of amyotrophic lateral sclerosis ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,UKRI| STRENGTH ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| Building on GWAS for NHLBI-disease: the CHARGE consortium ,NIH| ARIC Neurocognitive Study (ARIC-NCS) 1 of 5 ,NIH| Large Scale Sequencing and Analysis of Genomes ,NIH| PRECURSORS OF STROKE INCIDENCE AND PROGNOSIS ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,NIH| ARIC Neurocognitive Study (ARIC-NCS) Renewal 2 of 5 ,NIH| CHS Events Follow-up Study ,NIH| CHS research resources for the cardiovascular health of older adults ,NIH| ALZHEIMERS DISEASE AND ANIMAL MODELS ,EC| NEURINOX ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,EC| EURO-MOTOR ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Exceptional aging: 12 year trajectories to function ,NIH| Identification of genes causative for familial ALS gene using exome sequencing ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems ,NIH| Large Scale Genome Sequencing ,NIH| Temporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham Cohorts ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,NHMRC| Discovery of novel neurodegeneration genes via next-generation sequencing technologies and high-throughput cellular assays ,EC| ENGAGE ,NIH| MRI, Cognitive, Genetic and Biomarker Precursors of AD & Dementia in Young Adults ,NIH| Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS) ,NIH| Alzheimer's Disease Genetics Consortium ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NHMRC| Non-Alzheimer’s disease degenerative dementias: Identifying prodromal genetic/familial phenotypes, modifying factors, and protein variations involved in progression ,NIH| Modifier Genes that Influence Age at Onset or Protect Against Development of Alzheimer's Disease (AD) ,WT ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NHMRC| Developing insight into the molecular origins of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,NIH| Replication and Extension of ADSP Discoveries in African-Americans ,NIH| Identification and characterization of AD risk networks using multi-dimensional 'omics' dataJohnson J. O.; Chia R.; Miller D. E.; Li R.; Kumaran R.; Abramzon Y.; Alahmady N.; Renton A. E.; Topp S. D.; Gibbs J. R.; Cookson M. R.; Sabir M. S.; Dalgard C. L.; Troakes C.; Jones A. R.; Shatunov A.; Iacoangeli A.; Al Khleifat A.; Ticozzi N.; Silani V.; Gellera C.; Blair I. P.; Dobson-Stone C.; Kwok J. B.; Bonkowski E. S.; Palvadeau R.; Tienari P. J.; Morrison K. E.; Shaw P. J.; Al-Chalabi A.; Brown R. H.; Calvo A.; Mora G.; Al-Saif H.; Gotkine M.; Leigh F.; Chang I. J.; Perlman S. J.; Glass I.; Scott A. I.; Shaw C. E.; Basak A. N.; Landers J. E.; Chio A.; Crawford T. O.; Smith B. N.; Traynor B. J.; Smith B. N.; Ticozzi N.; Fallini C.; Gkazi A. S.; Topp S. D.; Scotter E. L.; Kenna K. P.; Keagle P.; Tiloca C.; Vance C.; Troakes C.; Colombrita C.; King A.; Pensato V.; Castellotti B.; Baas F.; Ten Asbroek A. L. M. A.; McKenna-Yasek D.; McLaughlin R. L.; Polak M.; Asress S.; Esteban-Perez J.; Stevic Z.; D'Alfonso S.; Mazzini L.; Comi G. P.; Del Bo R.; Ceroni M.; Gagliardi S.; Querin G.; Bertolin C.; Van Rheenen W.; Rademakers R.; Van Blitterswijk M.; Lauria G.; Duga S.; Corti S.; Cereda C.; Corrado L.; Soraru G.; Williams K. L.; Nicholson G. A.; Blair I. P.; Leblond-Manry C.; Rouleau G. A.; Hardiman O.; Morrison K. E.; Veldink J. H.; Van Den Berg L. H.; Al-Chalabi A.; Pall H.; Shaw P. J.; Turner M. R.; Talbot K.; Taroni F.; Garcia-Redondo A.; Wu Z.; Glass J. D.; Gellera C.; Ratti A.; Brown R. H.; Silani V.; Shaw C. E.; Landers J. E.; Dalgard C. L.; Adeleye A.; Soltis A. R.; Alba C.; Viollet C.; Bacikova D.; Hupalo D. N.; Sukumar G.; Pollard H. B.; Wilkerson M. D.; Martinez E. M.; Abramzon Y.; Ahmed S.; Arepalli S.; Baloh R. H.; Bowser R.; Brady C. B.; Brice A.; Broach J.; Campbell R. H.; Camu W.; Chia R.; Cooper-Knock J.; Ding J.; Drepper C.; Drory V. E.; Dunckley T. L.; Eicher J. D.; England B. K.; Faghri F.; Feldman E.; Floeter M. K.; Fratta P.; Geiger J. T.; Gerhard G.; Gibbs J. R.; Gibson S. B.; Glass J. D.; Hardy J.; Harms M. B.; Heiman-Patterson T. D.; Hernandez D. G.; Jansson L.; Kirby J.; Kowall N. W.; Laaksovirta H.; Landeck N.; Landi F.; Le Ber I.; Lumbroso S.; Macgowan D. J. L.; Maragakis N. J.; Mora G.; Mouzat K.; Murphy N. A.; Myllykangas L.; Nalls M. A.; Orrell R. W.; Ostrow L. W.; Pamphlett R.; Pickering-Brown S.; Pioro E. P.; Pletnikova O.; Pliner H. A.; Pulst S. M.; Ravits J. M.; Renton A. E.; Rivera A.; Robberecht W.; Rogaeva E.; Rollinson S.; Rothstein J. D.; Scholz S. W.; Sendtner M.; Shaw P. J.; Sidle K. C.; Simmons Z.; Singleton A. B.; Smith N.; Stone D. J.; Tienari P. J.; Troncoso J. C.; Valori M.; Van Damme P.; Van Deerlin V. M.; Van Den Bosch L.; Zinman L.; Landers J. E.; Chio A.; Bisogni G.; Borghero G.; Calvo A.; Canosa A.; Casale F.; Chio A.; Colletti T.; Conforti F. L.; Corbo M.; Demarco G.; Dubbioso R.; Ferrarese C.; Ferraro P. M.; Floris G.; Fuda G.; Gianferrari G.; Introna A.; Logroscino G.; Lunetta C.; Mandich P.; Mandrioli J.; Manera U.; Manganelli F.; Martinelli I.; Moglia C.; Pugliatti M.; Ricci C.; Riolo G.; Salamone P.; Sideri R.; Simonini C.; Volanti P.; Zollino M.;pmc: PMC8406220
pmid: 34459874
handle: 20.500.11768/118479 , 11587/499650 , 1887/3251143 , 2318/1806121 , 11591/470415 , 11392/2503361 , 11588/879060 , 11365/1181203 , 20.500.11770/323800 , 11380/1269183 , 2434/867820
pmc: PMC8406220
pmid: 34459874
handle: 20.500.11768/118479 , 11587/499650 , 1887/3251143 , 2318/1806121 , 11591/470415 , 11392/2503361 , 11588/879060 , 11365/1181203 , 20.500.11770/323800 , 11380/1269183 , 2434/867820
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene. Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder. This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis.
Europe PubMed Centra... arrow_drop_down Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; JAMA Neurology; Usiena air - Università di Siena; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaArticle . 2021Data sources: Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; Usiena air - Università di Siena; Crossref; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaHELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of HelsinkiLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2021License: CC BYArchivio Istituzionale dell'Università della CalabriaArticle . 2021Data 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.
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For further information contact us at helpdesk@openaire.eu45 citations 45 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 132visibility views 132 download downloads 145 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; JAMA Neurology; Usiena air - Università di Siena; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaArticle . 2021Data sources: Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; Usiena air - Università di Siena; Crossref; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaHELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of HelsinkiLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2021License: CC BYArchivio Istituzionale dell'Università della CalabriaArticle . 2021Data 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Preprint , Other literature type 2019Copernicus GmbH EC | QA4ECV, FWF | Vienna horizontal and ver...EC| QA4ECV ,FWF| Vienna horizontal and vertical distribution observations of nitrogen dioxide and aerosolsSebastian Donner; Jonas Kuhn; Michel Van Roozendael; Alkiviadis F. Bais; Steffen Beirle; Tim Bösch; Kristof Bognar; Ilya Bruchkousky; Kalok Chan; Theano Drosoglou; Caroline Fayt; Udo Frieß; François Hendrick; Christian Hermans; Junli Jin; Ang Li; Jianzhong Ma; Enno Peters; Gaia Pinardi; Andreas Richter; Stefan F. Schreier; André Seyler; Kimberly Strong; Jan-Lukas Tirpitz; Yang Wang; Pinhua Xie; Jin Xu; Xiaoyi Zhao; Thomas Wagner;doi: 10.5194/amt-2019-115
Abstract. We present different methods for in-field elevation calibration of MAX-DOAS (Multi AXis Differential Optical Absorption Spectroscopy) instruments that were applied and inter-compared during the second Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI-2). One necessary prerequisite of consistent MAX-DOAS retrievals is a precise and accurate calibration of the elevation angles of the different measuring systems. Therefore, different methods for this calibration were applied to 12 instruments from 11 groups during the campaign and the results were inter-compared. This work first introduces and explains the different methods, namely far and near lamp measurements, white/bright stripe scans and horizon scans, using data and results for only one (mainly the MPIC) instrument. In the second part, the far lamp measurements and the horizon scans are examined for all participating groups. Here, the results for both methods are first inter-compared for the different instruments and secondly, the two methods are compared amongst each other. All methods turned out to be well-suited for the calibration of the elevation angles of MAX-DOAS systems, with each of them having individual advantages and drawbacks. Considering the results of this study, the uncertainties of the methods can be estimated as ± 0.05° for the far lamp measurements, ± 0.1° to ± 0.3° for the horizon scans, and around ± 0.1° for the white stripe and near lamp measurements. When comparing the results of far lamp and horizon scan measurements, a spread of around 1° in the elevation calibrations is found between the participating instruments for both methods. This spread is on the order of a typical field of view (FOV) of a MAX-DOAS instrument and therefore, affecting the retrieval results. Further, a consistent (wavelength dependent) offset of 0.31° and 0.40° between far lamp measurements and horizon scans is found, which can be explained by the fact that, despite the flat topography around the measurement site, obstacles such as trees might mark the visible horizon during daytime. The observed wavelength dependence can be explained by surface albedo effects. Lastly, the results are discussed and recommendations for future campaigns are given.
https://doi.org/10.5... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2019Data sources: Copernicus Publicationsadd 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.eu1 citations 1 popularity Average influence Average impulse Average Powered by BIP!more_vert https://doi.org/10.5... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2019Data sources: Copernicus Publicationsadd 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 2017 United Kingdom, United Kingdom, Sweden, United Kingdom, Italy, Italy, United Kingdom, Croatia, Switzerland, Netherlands, Italy, SpainOvid Technologies (Wolters Kluwer Health) NIH | A Genome-wide Association..., NIH | SUBCLINICAL CARDIOVASCULA..., NWO | Delineating risk factors ... +103 projectsNIH| A Genome-wide Association Study for Early-Onset Myocardial Infarction ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,NWO| Delineating risk factors for the initiation and maintenance of cannabis use, in comparison with tobacco use, in adolescence ,NIH| UCLA Clinical and Translational Science Institute ,UKRI| Automated manufacturing cost estimator and supply chain management portal ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,SNSF| Blood pressure and the kidney: interface between genes and environment ,NIH| CHS-Transition Phase -268055222 ,NWO| NCHA Subsidiebesluit 2008-2012 ,WT| Stratifying Resilience and Depression Longitudinally (STRADL) ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,NIH| CHS Events Follow-up Study ,NIH| From GWAS loci to blood pressure genes, variants & mechanisms ,NIH| Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and Blood ,NWO| A social component of the TRIAL study (a prospective longitudinal study of mental health and social development from pre-puberty into young adulthood) with the development of pro- and antisocial behavior over time ,UKRI| Identification of genetic variants underlying Type 2 Diabetes in UK Indian Asians ,NWO| Tracking Young Adults: wave six of the TRAILS study ,NIH| DYNAMICS OF HEALTH .AGING . AND BODY COMPOSITION /Pittsburgh/-260962101 ,NIH| Limited Competition:Continuation of the Center for Genomic Studies on Mental Disorders (U24) ,NIH| TRIAL OF ASPIRIN AND VITAMIN E IN WOMEN ,NIH| GWA for Gene-Environment Interaction Effects Influencing CHD ,WT| Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers ,WT| A national DNA control series for genetic case-control studies based on the British 1958 birth cohort ,FWF| Genetics of Cerebral Small Vessel Disease ,NIH| Institute for Clinical and Translational Research (UL1) ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,NIH| Rare variants and NHLBI traits in deeply phenotyped cohorts ,NIH| Genomics of Developmental Trajectories in Twins ,NIH| WGA Study to Identify Genetic Variants Associated with CV Events in CHS ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Integration of Genomics &Transcriptomics in Normal Twins &Major Depression ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,WT| The UK Type 2 diabetes genetics consortium case-control collection: a resource for the genetic epidemiology of Type 2 diabetes. ,NWO| Social and psychopathological developments during adolescence: The assessment of mental disorders and contextually rated life events in the large TRAILS cohort ,NIH| CYCLINS AND CHEMICAL CARCINOGENESIS ,SNSF| Family study of specific subthreshold and threshold mood, anxiety, substance use and schizophrenia spectrum syndromes in the general population ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY ,WT| Population pharmacogenetics of statin response. ,EC| EPI-MIGRANT ,NIH| HEALTH ABC--COORDINATING UNIT-260962106 ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,HRZZ| Pleitropy, gene networks and gene pathways in isolated human populations: the 10,001 Dalmatians biobank ,AKA| The Application of 'Omics' to Public Health Epidemiology: Prospective Analysis of the FINRISK 1997 Cohort ,NIH| DYNAMICS OF HEALTH, AGING, AND BODY COMPOSITION-260962103 ,NIH| Genetic analysis of type II diabetes in Finnish population ,NIH| Prospective meta-analyses of drug-gene interactions: CHARGE GWAS consortium ,NIH| Genetic Determinants of Visceral Adiposity ,UKRI| Validation of clinically applicable biomarkers of insulin resistance to explain increased CVD in UK Indian Asians ,SNSF| Cardiovascular diseases and psychiatric disorders in the general population: a prospective follow-up study ,NWO| tweeling onderzoek, met een focus op gedrag en depressie ,NIH| Interstitial Cystitis in Swedish Twins ,NIH| Clinical and Translational Science Award ,WT| WTCCC2 core activities ,NIH| CHS research resources for the cardiovascular health of older adults ,EC| SUMMIT ,NIH| Exceptional aging: 12 year trajectories to function ,EC| BBMRI-LPC ,HRZZ| Pleitropy, gene networks and gene pathways in isolated human populations: the 10,001 Dalmatians biobank ,EC| PHASE ,SNSF| Psychiatric disorders in 35 to 65 year-old residents of the city of Lausanne and their association to cardiovasular risk factors: a population based survey ,FCT| LA 1 ,WT| The genetics of weight, BMI, adiposity and obesity ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE COORDINATING CENTER-268995159 ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-ULTRASOUND ,NIH| Type 1 Diabetes Genetics Consortium ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--EBCT READING ,EC| GMI ,UKRI| MICA: Medical Bioinformatics: Data-Driven Discovery for Personalised Medicine ,WT| Cambridge Institute for Medical Research (CIMR). ,WT| Whole genome strategies for detecting and characterizing complex trait loci. ,EC| CVGENES-AT-TARGET ,EC| ENGAGE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NWO| BBMRI-NL ,UKRI| Centre for Cognitive Ageing & Cognitive Epidemiology ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,UKRI| Assessment of biomedical risk factors and disease outcomes in the British 1958 cohort ,UKRI| Aetiology of type 2 diabetes and related metabolic disorders ,WT| Statistical methods for the analysis of genome-wide association and re-sequencing studies. ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-FIELD CENTER ,SNSF| Cardiovascular diseases and psychiatric disorders in the general population: a prospective follow-up study ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,NIH| GENOTYPING FOR LOCATING HUMAN DISEASE GENES ,WT| Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics. ,NIH| Identifying Genes for Type 2 Diabetes: FUSION ,AKA| Putting Public Health Genomics to practice in Cardiovascular diseases ¿ making sense and use of random associations in the ¿gray area¿ of genomewide association studies / Consortium: PUBGENSENS ,NWO| Gender differences in pathways to depression: the interplay of genes, environment, and (endo)phenotype ,WT| Identification of genetic variants underlying coronary artery disease and associated phenotypes in Indian Asians. ,NWO| Sustainable ammonia synthesis powered by renewable electricity ,NIH| Epidemiology of Venous Thrombosis &Pulmonary Embolism ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,NIH| Genetic Epidemiology of Causal Variants across the Life Course Phase II (CALiCo I ,NWO| Tracking Emerging Adults, the fifth wave of the TRAILS study ,AKA| Effects of Physical Activity during Military Training on Metabolomic traits ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY ,AKA| Dietary, life style, and genetic determinants of obesity and metabolic syndrome (DILGOM) ,NIH| The Women's Health Study: Infrastructure Support for Continued Cohort Follow-up ,UKRI| Aetiology of type 2 diabetes and obesity and related metabolic disorders ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-FIELD CENTER ,MZOS| Determinants of health and disease in general and isolated human populations ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NWO| Cluster computing in genetic linkage studies on human complex traits ,NIH| Major Depression: Stage 1 Genomewide Association in Population-Based Samples ,AKA| Public Health Genomics to Practice in Cardiovascular Diseases / Consortium: PUBGENSENSLouise V. Wain; Ahmad Vaez; Rick Jansen; Roby Joehanes; A. Mesut Erzurumluoglu; Paul F. O'Reilly; Claudia P. Cabrera; Helen R. Warren; Lynda M. Rose; Germaine C. Verwoert; Jouke-Jan Hottenga; Rona J. Strawbridge; Xiuqing Guo; Zoltán Kutalik; Stella Trompet; Nick Shrine; Alexander Teumer; Janina S. Ried; Joshua C. Bis; Albert V. Smith; Najaf Amin; Ilja M. Nolte; Anubha Mahajan; Nicholas J. Wareham; Edith Hofer; Peter K. Joshi; Kati Kristiansson; Michela Traglia; Aki S. Havulinna; Anuj Goel; Dragana Vuckovic; Fabiola M. Del Greco; Kristin L. Ayers; Jaume Marrugat; Daniela Ruggiero; Lorna M. Lopez; Teemu J. Niiranen; Stefan Enroth; Anne U. Jackson; Jennifer E. Huffman; Weihua Zhang; Jonathan Marten; Ilaria Gandin; Sarah E. Harris; Tatijana Zemunik; Nabi Shah; Martin H. de Borst; Massimo Mangino; Bram P. Prins; Ruifang Li-Gao; Ganesh Chauhan; Christopher Oldmeadow; Gonçalo R. Abecasis; Maryam Abedi; Michael R. Barnes; Chiara Batini; John Beilby; Tineka Blake; Michael Boehnke; Peter S. Braund; Morris Brown; Harry Campbell; John C. Chambers; Massimiliano Cocca; Francis S. Collins; John M. C. Connell; Heather J. Cordell; Jeffrey Damman; Gail Davies; Eco J. C. de Geus; Renée de Mutsert; Joris Deelen; Yusuf Demirkale; Alex S. F. Doney; Marcus Dörr; Martin Farrall; Mattias Frånberg; Christian Gieger; Franco Giulianini; Alan J. Gow; Anders Hamsten; Tamara B. Harris; Albert Hofman; Elizabeth G. Holliday; Jennie Hui; Marjo-Riitta Järvelin; Åsa Johansson; Andrew D. Johnson; Mika Kähönen; Sekar Kathiresan; Kay-Tee Khaw; Ivana Kolcic; Seppo Koskinen; Claudia Langenberg; Marty Larson; Lenore J. Launer; Li Lin; Lars Lind; François Mach; Chrysovalanto Mamasoula; Cristina Menni; Borbala Mifsud; Yuri Milaneschi; Anna Morgan; Alanna C. Morrison; Peter J. Munson; Priyanka Nandakumar; Quang Tri Nguyen; Teresa Nutile; Albertine J. Oldehinkel; Elin Org; Sandosh Padmanabhan; Aarno Palotie; Guillaume Paré; Brenda W.J.H. Penninx; Neil Poulter; Peter P. Pramstaller; Olli T. Raitakari; Meixia Ren; Kenneth Rice; Paul M. Ridker; Harriëtte Riese; Samuli Ripatti; Antonietta Robino; Jerome I. Rotter; Igor Rudan; Yasaman Saba; Aude Saint Pierre; Cinzia Sala; Rodney J. Scott; Denis C. Shields; David S. Siscovick; Rossella Sorice; Alice Stanton; David J. Stott; Johan Sundström; Morris A. Swertz; Simon Thom; Ioanna Tzoulaki; Christophe Tzourio; André G. Uitterlinden; Uwe Völker; Peter Vollenweider; Gonneke Willemsen; Alan F. Wright; Jie Yao; Sébastien Thériault; David Conen; Stéphanie Debette; Dennis O. Mook-Kanamori; Eleftheria Zeggini; Tim D. Spector; Pim van der Harst; Colin N. A. Palmer; Anne-Claire Vergnaud; Ruth J. F. Loos; Ozren Polasek; Giorgia Girotto; Caroline Hayward; C M Lindgren; Veronique Vitart; Nilesh J. Samani; Jaakko Tuomilehto; Ulf Gyllensten; Paul Knekt; Ian J. Deary; Marina Ciullo; Roberto Elosua; Bernard Keavney; Andrew A. Hicks; Robert A. Scott; Paolo Gasparini; Maris Laan; Yongmei Liu; Hugh Watkins; Catharina A. Hartman; Veikko Salomaa; Daniela Toniolo; Markus Perola; James F. Wilson; Jing Hua Zhao; Terho Lehtimäki; Cornelia M. van Duijn; Vilmundur Gudnason; Annette Peters; Rainer Rettig; J. Wouter Jukema; David P. Strachan; Walter Palmas; Andres Metspalu; Erik Ingelsson; Dorret I. Boomsma; Oscar H. Franco; Murielle Bochud; Christopher Newton-Cheh; Daniel I. Chasman; Aravinda Chakravarti; Joanne Knight; Andrew P. Morris; Daniel Levy; Martin D. Tobin; Mark J. Caulfield; Georg Ehret;Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project–based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7 , TNXB , LRP12 , LOC283335 , SEPT9 , and AKT2 , and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA . Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation.
CORE (RIOXX-UK Aggre... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryOxford University Research Archive; Hypertension; NARCIS; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017Publikationer från Uppsala UniversitetArticle . 2017Data sources: Publikationer från Uppsala UniversitetNARCIS; HypertensionArticle . 2017add 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.eu108 citations 108 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 28visibility views 28 download downloads 531 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryOxford University Research Archive; Hypertension; NARCIS; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017Publikationer från Uppsala UniversitetArticle . 2017Data sources: Publikationer från Uppsala UniversitetNARCIS; HypertensionArticle . 2017add 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=10.1161/hypertensionaha.117.09438&type=result"></script>'); --> </script>
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description Publicationkeyboard_double_arrow_right Article 2018 Netherlands, France, France, France, Finland, FranceSpringer Science and Business Media LLC NIH | Alzheimer Disease Genetic..., NIH | Alzheimer's Disease Genet..., FWF | Mechanisms of Small Vesse... +56 projectsNIH| Alzheimer Disease Genetic Architecture in African Americans ,NIH| Alzheimer's Disease Genetics Consortium ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,NIH| Genomic and Biological Studies of APOE ?2 in Alzheimer Disease ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| Genomes and Genetics at the BCM-HGSC ,NIH| CHS-Transition Phase -268055222 ,NIH| Genetic Epidemiology of Cerebrovascular Factors in Alzheimer's Disease ,NIH| Alzheimer's Disease Patient Registry (ADPR/ACT) ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| COGNITIVE TESTS, APOE, BRAIN MRI AND RISKS OF DEMENTIA ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,FWF| Genetics of Cerebral Small Vessel Disease ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| PRECURSORS OF STROKE INCIDENCE AND PROGNOSIS ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,NWO| Sustainable ammonia synthesis powered by renewable electricity ,NIH| ARIC Neurocognitive Study (ARIC-NCS) 1 of 5 ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| Neurogenesis in Adult Brain: Gene Networks and Alzheimer?s Disease ,NIH| Large Scale Sequencing and Analysis of Genomes ,NIH| ARIC Neurocognitive Study (ARIC-NCS) Renewal 2 of 5 ,NIH| CHS Events Follow-up Study ,NIH| Building on GWAS for NHLBI-disease: the CHARGE consortium ,NIH| THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE ,NIH| Alzheimer's Disease Genetics Consortium ,EC| JPco-fuND ,NIH| CHS research resources for the cardiovascular health of older adults ,AKA| Deciphering the novel Alzheimer’s disease-associated targets in synaptic dysfunction ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NIH| Consortium for Alzheimers Sequence Analysis (CASA) ,NIH| Identification and characterization of AD risk networks using multi-dimensional 'omics' data ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Genetic Studies of Alzheimer's Disease in Caribbean Hispanics ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| MRI, Cognitive, Genetic and Biomarker Precursors of AD & Dementia in Young Adults ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Replication and Extension of ADSP Discoveries in African-Americans ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems ,NIH| Large Scale Genome Sequencing ,NIH| Temporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham Cohorts ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,NIH| Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD) ,NIH| Modifier Genes that Influence Age at Onset or Protect Against Development of Alzheimer's Disease (AD) ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Integrating Neuroimaging, Multi-omics, and Clinical Data in Complex Disease ,ANR| GENMED ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NIH| Preclinical AD: Correlates of Amyloid, Tau PET and fcMRI in Framingham Gen 3 Young Adults ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,EC| ENGAGE ,NIH| Exceptional aging: 12 year trajectories to functionJoshua C. Bis; Xueqiu Jian; Brian W. Kunkle; Yuning Chen; Kara L. Hamilton-Nelson; William S. Bush; William J Salerno; Daniel Lancour; Yiyi Ma; Alan E. Renton; Edoardo Marcora; John J. Farrell; Yi Zhao; Liming Qu; Shahzad Ahmad; Najaf Amin; Philippe Amouyel; Gary W. Beecham; Jennifer E. Below; Dominique Campion; Laura B. Cantwell; Camille Charbonnier; Jaeyoon Chung; Paul K. Crane; Carlos Cruchaga; L. Adrienne Cupples; Jean-François Dartigues; Stéphanie Debette; Jean-François Deleuze; Lucinda Fulton; Stacey Gabriel; Emmanuelle Génin; Richard A. Gibbs; Alison Goate; Benjamin Grenier-Boley; Namrata Gupta; Jonathan L. Haines; Aki S. Havulinna; Seppo Helisalmi; Mikko Hiltunen; Daniel P. Howrigan; M. Arfan Ikram; Jaakko Kaprio; Jan Konrad; Amanda B. Kuzma; Eric S. Lander; Mark Lathrop; Terho Lehtimäki; Honghuang Lin; Kari Mattila; Richard Mayeux; Donna M. Muzny; Waleed Nasser; Benjamin M. Neale; Kwangsik Nho; Gaël Nicolas; Devanshi Patel; Margaret A. Pericak-Vance; Markus Perola; Bruce M. Psaty; Olivier Quenez; Farid Rajabli; Richard Redon; Christiane Reitz; Anne M. Remes; Veikko Salomaa; Chloé Sarnowski; Helena Schmidt; Michael A. Schmidt; Reinhold Schmidt; Hilkka Soininen; Timothy A. Thornton; Giuseppe Tosto; Christophe Tzourio; Sven J. van der Lee; Cornelia M. van Duijn; Otto Valladares; Badri N. Vardarajan; Li-San Wang; Weixin Wang; Ellen M. Wijsman; Richard K. Wilson; Daniela Witten; Kim C. Worley; Xiaoling Zhang; Alzheimer’s Disease Sequencing; Céline Bellenguez; Jean-Charles Lambert; Mitja I. Kurki; Aarno Palotie; Mark J. Daly; Eric Boerwinkle; Kathryn L. Lunetta; Anita L. DeStefano; Josée Dupuis; Eden R. Martin; Gerard D. Schellenberg; Sudha Seshadri; Adam C. Naj; Myriam Fornage; Lindsay A. Farrer;pmc: PMC7387240 , PMC6375806
AbstractThe Alzheimer’s Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with genome-wide genotyping imputed to the Haplotype Reference Consortium panel (9,343 cases, 11,527 controls). The top findings in the discovery sample were also followed-up in the ADSP whole-genome sequenced family-based dataset (197 members of 42 EA families and 501 members of 157 CH families). We identified novel and predicted functional genetic variants in genes previously associated with AD. We also detected associations in three novel genes: IGHG3 (p = 9.8 × 10−7), an immunoglobulin gene whose antibodies interact with β-amyloid, a long non-coding RNA AC099552.4 (p = 1.2 × 10−7), and a zinc-finger protein ZNF655 (gene-based p = 5.0 × 10−6). The latter two suggest an important role for transcriptional regulation in AD pathogenesis.
NARCIS arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2020Data 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=10.1038/s41380-018-0112-7&type=result"></script>'); --> </script>
For further information contact us at helpdesk@openaire.eu202 citations 202 popularity Top 1% influence Top 10% impulse Top 0.1% Powered by BIP!visibility 30visibility views 30 download downloads 67 Powered bymore_vert NARCIS arrow_drop_down HELDA - Digital Repository of the University of HelsinkiArticle . 2020Data 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Article , Other literature type 2016 Germany, Ireland, United Kingdom, Netherlands, Italy, Spain, United Kingdom, France, France, France, United Kingdom, France, France, France, United Kingdom, United Kingdom, France, IrelandSpringer Science and Business Media LLC EC | NEUROSCHEMA, NIH | The ARIC and Neurocogniti..., NIH | Functional genomics of bi... +110 projectsEC| NEUROSCHEMA ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NIH| Functional genomics of bipolar disorder ,NIH| OBESITY, DIABETES &AGING ANIMAL RESOURCE ,NIH| Genotypic Determinants of Aspirin Response in High-Risk ,NHMRC| Cerebrovascular diseases and Brain Ageing – a program of research into novel mechanisms, risk prevention and innovative health care delivery ,NHMRC| The Older Australian Twins Study (OATS) of healthy brain ageing and age-related neurocognitive disorders ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| AGES STUDY-THE REYKJAVIK STUDY OF HEALTHY AGING FOR THE NEW MILLENNIUM-260012100 ,NIH| ENIGMA Center for Worldwide Medicine, Imaging & Genomics ,NIH| UCLA Clinical and Translational Science Institute ,NIH| HARDI Mapping of Disease Effects on the Brain ,NIH| Predicting Brain Changes in HIV/AIDS ,NSF| MRI: Acquisition of a Data Analytics Cluster for Computational Social Science ,NIH| CHS-Transition Phase -268055222 ,NIH| Searching for Endophenotypes of Bipolar Disorder ,NIH| Alzheimer's Disease Genetics Consortium ,EC| ORACLE ,NWO| Twin-family database for behavior genetics and genomics studies ,NWO| Networking through ADHD biology ,NIH| Alzheimer's Disease Genetics Consortium ,NIH| Empowering Personalized Medicine: Integrating Imaging, Genetics, and Biomarkers ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,WT| Genome-wide association studies in partial epilepsies. ,EC| MiND ,EC| TACTICS ,WT| Stratifying Resilience and Depression Longitudinally (STRADL) ,NIH| Risk Factors, Pathology, and Clinical Expressions of AD ,NIH| CHS Events Follow-up Study ,NIH| From GWAS loci to blood pressure genes, variants & mechanisms ,NIH| Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and Blood ,NIH| Genetic Epidemiology of Cognitive Decline in an Aging Population Sample ,NIH| An Integrated Genetic and Epigenetic Approach to Cerebral Small Vessel Disease ,NIH| Occult Small Vessel Cerebrovascular Disease in High Risk Families ,NHMRC| Type 2 Diabetes Mellitus and Cognitive Decline - a longitudinal study of effects and mechanisms ,NHMRC| The prevention, early detection, & effective management of neurocognitive disorders in the elderly ,EC| EU-AIMS ,NHMRC| Gene-environment interaction in healthy brain ageing and age related neurodegeneration ,EC| MATRICS ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,NIH| Prospective meta-analyses of drug-gene interactions: CHARGE GWAS consortium ,NHMRC| Prevention, early detection and effective management of neurocognitive disorders in the elderly ,NIH| GCRC-RENOVATION ,NIH| Epidemiologic Study of Neural Reserve and Neurobiology of Aging ,NIH| International Multi-Center ADHD Genetics Project ,NHMRC| A population-based study of cerebrovascular mechanisms underyling gait, balance and cognition in older people ,NIH| Exceptional aging: 12 year trajectories to function ,NWO| From genetic pathways to cognition in ADHD: a question of the right connections? ,NHMRC| Advancing our understanding of the genetics of Psychiatric and Neurological Disease ,EC| PHASE ,NIH| Hormonal trajectories in aging ,NIH| Using Genetics to Dissect Schizhoprenia, Bipolar Disorder, and Depression ,NIH| Major Depression: Stage 1 Genomewide Association in Population-Based Samples ,NIH| Role of Mitochondrial Health in Acute and Chronic Kidney Disease in Older Adults ,CIHR ,NHMRC| Genetics of brain structure and function ,NIH| Epidemiology of Biomarkers of Risk and Progression in LOAD ,NIH| Institute for Clinical and Translational Research (UL1) ,NIH| Laboratory of Neuro Imaging Resource (LONIR) ,NHMRC| Australian Twin Registry ,NWO| NCHA Subsidiebesluit 2008-2012 ,ARC| The articulate brain ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,NIH| Genomic Studies of Bipolar Disorder in a Large Cohort from The Netherlands ,NWO| Neuro-imaging study in twins concordant or discordant for obsessive-compulsive symptoms. ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,NHMRC| Genetics of melanoma risk factors ,NIH| Structural Brain Abnormalities In Depression ,NIH| COGNITIVE TESTS, APOE, BRAIN MRI AND RISKS OF DEMENTIA ,NIH| CYCLINS AND CHEMICAL CARCINOGENESIS ,EC| IMAGEMEND ,NIH| Alzheimer's disease risk analyzed using population imaging genomics ,NHMRC| Prevention and management of mental disorders in older Australians ,NIH| Functional Neuroimaging In Unipolar And Bipolar Depresse ,NIH| GWA for Gene-Environment Interaction Effects Influencing CHD ,NIH| MOLECULAR AND BIOCHEMICAL GENETICS LABORATORY RENOVATION ,NIH| Risk Factors, Pathology, and Clinical Expressions of AD ,NIH| Dimensional Neurogenetic Markers of Limbic System Integrity & Psychiatric Illness ,NHMRC| Development and Evaluation of Statistical Methods and Software for Analysis of Complex Genetic Disease Data ,NIH| CHS research resources for the cardiovascular health of older adults ,WT| A Powerful, Genome-Wide Association Scan for Susceptibility Genes for late-onset Alzheimer's disease ,NHMRC| Genetic Repositories Australia ,NIH| Genetic Influences on Human Cortical Development ,NIH| Epidemiology of Venous Thrombosis &Pulmonary Embolism ,NIH| SHORT-TERM STABILITY OF CLINICAL TESTS ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,ARC| Elucidating the genetics of attention deficit hyperactivity disorder by integrating pathway and prediction analyses ,SFI| The application of MRI to identify endophenotypes in focal epilepsy ,NWO| Functional neural network plasticity in adolescent twins and sibs ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| Vascular Cognitive and Motor Decline: Impact of aPL ,NIH| Research and Mentoring on Integrating Psychiatric Genetics and Neuroscience ,EC| ENGAGE ,NIH| Genetic influences on the brain: A twin imaging study ,NIH| Rare variants and NHLBI traits in deeply phenotyped cohorts ,NIH| Genomics of Developmental Trajectories in Twins ,NIH| Neuroimaging genetics to study social cognitive deficits in ASD and schizophrenia ,NIH| WGA Study to Identify Genetic Variants Associated with CV Events in CHS ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,EC| AGGRESSOTYPE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,UKRI| Centre for Cognitive Ageing & Cognitive Epidemiology ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,NIH| EXTRAMULAR RESEARCH FACILITIES CONSTRUCTION ,NIH| Genetic Influences on Human Neuroanatomical Shapes ,NIH| Neurodevelopment and Imaging among HIV-infected Children from the PREDICT study ,NIH| RISK FACTORS FOR INCIDENT AD IN A BIRACIAL COMMUNITY ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,EC| GMI ,NIH| Alzheimers Disease Neuroimaging Initiative ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Integration of Genomics &Transcriptomics in Normal Twins &Major Depression ,NIH| CORONARY HEART DISEASE AND STROKEHieab H.H. Adams; Vincent Chouraki; Jason L. Stein; Miguel E. Rentería; Stella Trompet; Alejandro Arias-Vasquez; Sudha Seshadri; Sylvane Desrivières; Sven J. van der Lee; Najaf Amin; Micael Andersson; Konstantinos Arfanakis; Benjamin S. Aribisala; Nicola J. Armstrong; Alexa S. Beiser; Manon Bernard; Susan H. Blanton; Marco P. Boks; Janita Bralten; Owen Carmichael; Ganesh Chauhan; Qiang Chen; Gabriel Cuellar-Partida; Anouk den Braber; Stefan Ehrlich; Irina Filippi; Tian Ge; Rebecca F. Gottesman; Corina U. Greven; Tulio Guadalupe; Unn K. Haukvik; Saima Hilal; D. Hoehn; Tianye Jia; Marieke Klein; Phil H. Lee; David C. Liewald; Lorna M. Lopez; Michelle Luciano; Christine Macare; Andre F. Marquand; Karen A. Mather; Manuel Mattheisen; Bernard Mazoyer; Rebekah McWhirter; Yuri Milaneschi; Nazanin Mirza-Schreiber; Ryan L. Muetzel; Susana Muñoz Maniega; Kwangsik Nho; Loes M. Olde Loohuis; Jaap Oosterlaan; Irene Pappa; Lukas Pirpamer; Sara Pudas; Adaikalavan Ramasamy; Jennifer S. Richards; Shannon L. Risacher; Roberto Roiz-Santiañez; Nanda Rommelse; Emma J. Rose; Claudia L. Satizabal; Lianne Schmaal; Li Shen; Jean Shin; Albert V. Smith; Emma Sprooten; Lachlan T. Strike; Alexander Teumer; Russell Thomson; Diana Tordesillas-Gutiérrez; Roberto Toro; Daniah Trabzuni; Dhananjay Vaidya; Jeroen van der Grond; Dennis van der Meer; Marjolein M. J. Van Donkelaar; Kristel R. van Eijk; Theo G.M. van Erp; Esther Walton; Lars T. Westlye; Christopher D. Whelan; Beverly G Windham; Anderson M. Winkler; Girma Woldehawariat; Christiane Wolf; Thomas Wolfers; Bing Xu; Ingrid Agartz; David Ames; Philippe Amouyel; Ole A. Andreassen; Sampath Arepalli; Mark E. Bastin; Diane M. Becker; James T. Becker; John Blangero; Hans van Bokhoven; Dorret I. Boomsma; Henry Brodaty; Rachel M. Brouwer; Randy L. Buckner; Vince D. Calhoun; Dara M. Cannon; Gianpiero L. Cavalleri; Christopher Chen; Ching-Yu Cheng; Sven Cichon; Mark R. Cookson; Aiden Corvin; Benedicto Crespo-Facorro; Joanne E. Curran; Michael Czisch; Gareth E. Davies; Eco J. C. de Geus; Greig I. Zubicaray; Anita L. DeStefano; Srdjan Djurovic; Gary Donohoe; Wayne C. Drevets; Thomas D. Dyer; Susanne Erk; Thomas Espeseth; Denis A. Evans; Iryna O. Fedko; Simon E. Fisher; Debra A. Fleischman; Clyde Francks; Masaki Fukunaga; J. Raphael Gibbs; Randy L. Gollub; Harald H H Göring; Hans J. Grabe; Robert C. Green; Oliver Gruber; Vilmundur Gudnason; Narelle K. Hansell; John Hardy; Ryota Hashimoto; Andreas Heinz; Stephanie Le Hellard; Dirk J. Heslenfeld; Beng-Choon Ho; Wolfgang Hoffmann; Albert Hofman; Florian Holsboer; Georg Homuth; Hilleke E. Hulshoff Pol; M. Kamran Ikram; Clifford R. Jack; Mark Jenkinson; Robert Johnson; Erik G. Jönsson; J. Wouter Jukema; David S. Knopman; Peter Kochunov; Stephen M. Lawrie; Herve Lemaitre; Dan L. Longo; W.T. Longstreth; Oscar L. Lopez; Simon Lovestone; Jean-Luc Martinot; Colm McDonald; Andrew M. McIntosh; Katie L. McMahon; Francis J. McMahon; Patrizia Mecocci; Ingrid Melle; Andreas Meyer-Lindenberg; Sebastian Mohnke; Derek W. Morris; Thomas H. Mosley; Thomas W. Mühleisen; Thomas E. Nichols; Wiro J. Niessen; Markus M. Nöthen; Lars Nyberg; Kazutaka Ohi; Roel A. Ophoff; Massimo Pandolfo; G. Bruce Pike; Bruce M. Psaty; Marcella Rietschel; Joshua L. Roffman; Nina Romanczuk-Seiferth; Mina Ryten; Ralph L. Sacco; Perminder S. Sachdev; Andrew J. Saykin; Reinhold Schmidt; Peter R. Schofield; Andrew Singleton; Hilkka Soininen; Velandai Srikanth; Jessika E. Sussmann; Anbupalam Thalamuthu; Henning Tiemeier; Arthur W. Toga; Bryan J. Traynor; Juan C. Troncoso; Jessica A. Turner; Christophe Tzourio; André G. Uitterlinden; Aad van der Lugt; Nic J A van der Wee; Cornelia M. van Duijn; Dennis van 't Ent; Marie-José van Tol; Badri N. Vardarajan; Dick J. Veltman; Meike W. Vernooij; Henry Völzke; Henrik Walter; Joanna M. Wardlaw; Thomas H. Wassink; Michael E. Weale; Daniel R. Weinberger; Wei Wen; Eric Westman; Tonya White; Tien Yin Wong; H. Ronald Zielke; Alan B. Zonderman; Ian J. Deary; Nicholas G. Martin; Anton J. M. de Craen; Margaret J. Wright; Lenore J. Launer; Gunter Schumann; Barbara Franke; Stéphanie Debette; Sarah E. Medland; Paul M. Thompson;pmid: 27694991
pmc: PMC5227112
handle: 1871.1/e355ae09-2997-486e-98e5-c8968be7f4c4 , 10902/16311 , 11858/00-001M-0000-002B-7F28-6 , 11858/00-001M-0000-002C-2A97-4 , 2066/165723 , 11370/f227c90a-5d2a-41c8-a65b-5cb41250ef07 , 1887/112477 , 1983/ea8a2fa3-e92b-41d9-9147-c1b24d8515c3 , 11391/1406555 , 20.500.11820/cef4fd4e-02ab-4e12-8153-a6de64660b4d , 1874/343369
pmid: 27694991
pmc: PMC5227112
handle: 1871.1/e355ae09-2997-486e-98e5-c8968be7f4c4 , 10902/16311 , 11858/00-001M-0000-002B-7F28-6 , 11858/00-001M-0000-002C-2A97-4 , 2066/165723 , 11370/f227c90a-5d2a-41c8-a65b-5cb41250ef07 , 1887/112477 , 1983/ea8a2fa3-e92b-41d9-9147-c1b24d8515c3 , 11391/1406555 , 20.500.11820/cef4fd4e-02ab-4e12-8153-a6de64660b4d , 1874/343369
Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (rhogenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits. Contains fulltext : 165723pub.pdf (Publisher’s version ) (Closed access)
CORE (RIOXX-UK Aggre... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2016Data sources: Maynooth University ePrints & eTheses ArchiveOxford University Research ArchiveOther literature type . 2017Data sources: Oxford University Research ArchiveRecolector de Ciencia Abierta, RECOLECTA; UCreaArticle . 2019 . 2016Spiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryMETIS Research Information System; Nature Neuroscience; NARCIS; PURE Aarhus UniversityArticle . 2016License: Springer TDMNARCIS; Nature NeuroscienceArticle . 2016LUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2016NARCIS; Nature NeuroscienceArticle . 2016add 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.eu198 citations 198 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 141visibility views 141 download downloads 458 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down Maynooth University ePrints & eTheses ArchiveArticle . 2016Data sources: Maynooth University ePrints & eTheses ArchiveOxford University Research ArchiveOther literature type . 2017Data sources: Oxford University Research ArchiveRecolector de Ciencia Abierta, RECOLECTA; UCreaArticle . 2019 . 2016Spiral - Imperial College Digital RepositoryArticle . 2016Data sources: Spiral - Imperial College Digital RepositoryMETIS Research Information System; Nature Neuroscience; NARCIS; PURE Aarhus UniversityArticle . 2016License: Springer TDMNARCIS; Nature NeuroscienceArticle . 2016LUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2016NARCIS; Nature NeuroscienceArticle . 2016add 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 Other literature type , Article 2020 GermanyCopernicus GmbH EC | QA4ECV, FWF | Vienna horizontal and ver...EC| QA4ECV ,FWF| Vienna horizontal and vertical distribution observations of nitrogen dioxide and aerosolsS. Donner; J. Kuhn; J. Kuhn; M. Van Roozendael; A. Bais; S. Beirle; T. Bösch; K. Bognar; I. Bruchkouski; K. L. Chan; S. Dörner; T. Drosoglou; C. Fayt; U. Frieß; F. Hendrick; C. Hermans; J. Jin; A. Li; J. Ma; E. Peters; E. Peters; G. Pinardi; A. Richter; S. F. Schreier; A. Seyler; K. Strong; J.-L. Tirpitz; Y. Wang; P. Xie; J. Xu; X. Zhao; X. Zhao; T. Wagner;We present different methods for in-field elevation calibration of MAX-DOAS (Multi AXis Differential Optical Absorption Spectroscopy) instruments that were applied and inter-compared during the second Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI-2). One necessary prerequisite of consistent MAX-DOAS retrievals is a precise and accurate calibration of the elevation angles of the different measuring systems. Therefore, different methods for this calibration were applied to several instruments during the campaign, and the results were inter-compared. This work first introduces and explains the different methods, namely far- and near-lamp measurements, white-stripe scans, horizon scans and sun scans, using data and results for only one (mainly the Max Planck Institute for Chemistry) instrument. In the second part, the far-lamp measurements and the horizon scans are examined for all participating groups. Here, the results for both methods are first inter-compared for the different instruments; secondly, the two methods are compared amongst each other. All methods turned out to be well-suited for the calibration of the elevation angles of MAX-DOAS systems, with each of them having individual advantages and drawbacks. Considering the results of this study, the systematic uncertainties of the methods can be estimated as ±0.05∘ for the far-lamp measurements and the sun scans, ±0.25∘ for the horizon scans, and around ±0.1∘ for the white-stripe and near-lamp measurements. When comparing the results of far-lamp and horizon-scan measurements, a spread of around 0.9∘ in the elevation calibrations is found between the participating instruments for both methods. This spread is of the order of a typical field of view (FOV) of a MAX-DOAS instrument and therefore affecting the retrieval results. Further, consistent (wavelength dependent) offsets of 0.32∘ and 0.40∘ between far-lamp measurements and horizon scans are found, which can be explained by the fact that, despite the flat topography around the measurement site, obstacles such as trees might mark the visible horizon during daytime. The observed wavelength dependence can be explained by surface albedo effects. Lastly, the results are discussed and recommendations for future campaigns are given.
DLR publication serv... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2020Data sources: Copernicus Publicationsadd 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 DLR publication serv... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2020Data sources: Copernicus Publicationsadd 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 2020Copernicus GmbH EC | ACTRIS-2, EC | QA4ECV, FWF | Vienna horizontal and ver...EC| ACTRIS-2 ,EC| QA4ECV ,FWF| Vienna horizontal and vertical distribution observations of nitrogen dioxide and aerosolsKarin Kreher; Michel Van Roozendael; François Hendrick; Arnoud Apituley; Ermioni Dimitropoulou; Udo Frieß; Andreas Richter; Thomas Wagner; Johannes Lampel; Nader Abuhassan; Li Ang; Monica Anguas; Alkis Bais; Nuria Benavent; Tim Bösch; Kristof Bognar; Alexander N. Borovski; Ilya Bruchkouski; Alexander Cede; Kalok Chan; Sebastian Donner; Theano Drosoglou; Caroline Fayt; Henning Finkenzeller; David Garcia-Nieto; Clio Gielen; Laura Gómez-Martín; Nan Hao; Bas Henzing; Jay R. Herman; Christian Hermans; Syedul Hoque; Hitoshi Irie; Junli Jin; Paul Johnston; Junaid Khayyam Butt; Fahim Khokhar; Theodore K. Koenig; Jonas Kuhn; Vinod Kumar; Cheng Liu; Jianzhong Ma; Alexis Merlaud; Abhishek Kumar Mishra; Moritz Müller; Mónica Navarro-Comas; Mareike Ostendorf; Andrea Pazmino; Enno Peters; Gaia Pinardi; Manuel Pinharanda; Ankie Piters; Ulrich Platt; Oleg Postylyakov; C. Prados-Roman; Olga Puentedura; Richard Querel; Alfonso Saiz-Lopez; Anja Schönhardt; Stefan F. Schreier; André Seyler; Vinayak Sinha; Elena Spinei; Kimberly Strong; Frederik Tack; Xin Tian; Martin Tiefengraber; Jan-Lukas Tirpitz; Jeroen van Gent; Rainer Volkamer; Mihalis Vrekoussis; Shanshan Wang; Zhuoru Wang; Mark Wenig; Folkard Wittrock; Pinhua H. Xie; Jin Xu; Margarita Yela; Chengxin Zhang; Xiaoyi Zhao;Abstract. In September 2016, 36 spectrometers from 24 institutes measured a number of key atmospheric pollutants for a period of 17 d during the Second Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI-2) that took place at Cabauw, the Netherlands (51.97∘ N, 4.93∘ E). We report on the outcome of the formal semi-blind intercomparison exercise, which was held under the umbrella of the Network for the Detection of Atmospheric Composition Change (NDACC) and the European Space Agency (ESA). The three major goals of CINDI-2 were (1) to characterise and better understand the differences between a large number of multi-axis differential optical absorption spectroscopy (MAX-DOAS) and zenith-sky DOAS instruments and analysis methods, (2) to define a robust methodology for performance assessment of all participating instruments, and (3) to contribute to a harmonisation of the measurement settings and retrieval methods. This, in turn, creates the capability to produce consistent high-quality ground-based data sets, which are an essential requirement to generate reliable long-term measurement time series suitable for trend analysis and satellite data validation. The data products investigated during the semi-blind intercomparison are slant columns of nitrogen dioxide (NO2), the oxygen collision complex (O4) and ozone (O3) measured in the UV and visible wavelength region, formaldehyde (HCHO) in the UV spectral region, and NO2 in an additional (smaller) wavelength range in the visible region. The campaign design and implementation processes are discussed in detail including the measurement protocol, calibration procedures and slant column retrieval settings. Strong emphasis was put on the careful alignment and synchronisation of the measurement systems, resulting in a unique set of measurements made under highly comparable air mass conditions. The CINDI-2 data sets were investigated using a regression analysis of the slant columns measured by each instrument and for each of the target data products. The slope and intercept of the regression analysis respectively quantify the mean systematic bias and offset of the individual data sets against the selected reference (which is obtained from the median of either all data sets or a subset), and the rms error provides an estimate of the measurement noise or dispersion. These three criteria are examined and for each of the parameters and each of the data products, performance thresholds are set and applied to all the measurements. The approach presented here has been developed based on heritage from previous intercomparison exercises. It introduces a quantitative assessment of the consistency between all the participating instruments for the MAX-DOAS and zenith-sky DOAS techniques.
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.eu58 citations 58 popularity Top 1% influence Top 10% impulse Top 1% 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 , Other literature type 2021 Netherlands, Belgium, Italy, Italy, Italy, Italy, United Kingdom, Italy, Italy, Italy, Italy, United Kingdom, Italy, Italy, Italy, Italy, Italy, Turkey, FinlandAmerican Medical Association (AMA) NIH | Coordinating Center for G..., FWF | Genetics of Cerebral Smal..., NWO | NCHA Subsidiebesluit 2008... +47 projectsNIH| Coordinating Center for Genetics and Genomics of Alzheimer's Disease (CGAD) ,FWF| Genetics of Cerebral Small Vessel Disease ,NWO| NCHA Subsidiebesluit 2008-2012 ,NIH| National Cell Repository for Alzheimer's Disease (NCRAD) ,NIH| Genomes and Genetics at the BCM-HGSC ,NIH| CHS-Transition Phase -268055222 ,NIH| Genetic Discovery and Pathobiology of Frontotemporal Lobar Degeneration and Related TDP-43 Proteinopathies ,NIH| THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITE ,UKRI| JPND Biological Resource Analysis to Identify New MEchanisms and phenotypes in Neurodegenerative Diseases (BRAIN-MEND) ,NHMRC| Unravelling the molecular basis of amyotrophic lateral sclerosis ,NIH| ALZHEIMERS DISEASE DATA COORDINATING CENTER ,UKRI| STRENGTH ,NIH| Sequence-based Discovery of AD Risk & Protective Alleles ,NIH| Building on GWAS for NHLBI-disease: the CHARGE consortium ,NIH| ARIC Neurocognitive Study (ARIC-NCS) 1 of 5 ,NIH| Large Scale Sequencing and Analysis of Genomes ,NIH| PRECURSORS OF STROKE INCIDENCE AND PROGNOSIS ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,NIH| ARIC Neurocognitive Study (ARIC-NCS) Renewal 2 of 5 ,NIH| CHS Events Follow-up Study ,NIH| CHS research resources for the cardiovascular health of older adults ,NIH| ALZHEIMERS DISEASE AND ANIMAL MODELS ,EC| NEURINOX ,NIH| CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample ,EC| EURO-MOTOR ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Exceptional aging: 12 year trajectories to function ,NIH| Identification of genes causative for familial ALS gene using exome sequencing ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,NIH| Collaborative GWAS of Dementia, AD and related MRI and Cognitive Endophenotypes ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems ,NIH| Large Scale Genome Sequencing ,NIH| Temporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham Cohorts ,NIH| Alzheimers Disease in Mild Cognitive Impairment ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,NHMRC| Discovery of novel neurodegeneration genes via next-generation sequencing technologies and high-throughput cellular assays ,EC| ENGAGE ,NIH| MRI, Cognitive, Genetic and Biomarker Precursors of AD & Dementia in Young Adults ,NIH| Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS) ,NIH| Alzheimer's Disease Genetics Consortium ,NIH| The ARIC and Neurocognitive Longitudinal Study ,NHMRC| Non-Alzheimer’s disease degenerative dementias: Identifying prodromal genetic/familial phenotypes, modifying factors, and protein variations involved in progression ,NIH| Modifier Genes that Influence Age at Onset or Protect Against Development of Alzheimer's Disease (AD) ,WT ,NIH| ARIC Neurocognitive Study (ARIC-NCS) ,NHMRC| Developing insight into the molecular origins of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis ,FWF| Mechanisms of Small Vessel Related Brain Damage and Cognitive Impairment ,NIH| Replication and Extension of ADSP Discoveries in African-Americans ,NIH| Identification and characterization of AD risk networks using multi-dimensional 'omics' dataJohnson J. O.; Chia R.; Miller D. E.; Li R.; Kumaran R.; Abramzon Y.; Alahmady N.; Renton A. E.; Topp S. D.; Gibbs J. R.; Cookson M. R.; Sabir M. S.; Dalgard C. L.; Troakes C.; Jones A. R.; Shatunov A.; Iacoangeli A.; Al Khleifat A.; Ticozzi N.; Silani V.; Gellera C.; Blair I. P.; Dobson-Stone C.; Kwok J. B.; Bonkowski E. S.; Palvadeau R.; Tienari P. J.; Morrison K. E.; Shaw P. J.; Al-Chalabi A.; Brown R. H.; Calvo A.; Mora G.; Al-Saif H.; Gotkine M.; Leigh F.; Chang I. J.; Perlman S. J.; Glass I.; Scott A. I.; Shaw C. E.; Basak A. N.; Landers J. E.; Chio A.; Crawford T. O.; Smith B. N.; Traynor B. J.; Smith B. N.; Ticozzi N.; Fallini C.; Gkazi A. S.; Topp S. D.; Scotter E. L.; Kenna K. P.; Keagle P.; Tiloca C.; Vance C.; Troakes C.; Colombrita C.; King A.; Pensato V.; Castellotti B.; Baas F.; Ten Asbroek A. L. M. A.; McKenna-Yasek D.; McLaughlin R. L.; Polak M.; Asress S.; Esteban-Perez J.; Stevic Z.; D'Alfonso S.; Mazzini L.; Comi G. P.; Del Bo R.; Ceroni M.; Gagliardi S.; Querin G.; Bertolin C.; Van Rheenen W.; Rademakers R.; Van Blitterswijk M.; Lauria G.; Duga S.; Corti S.; Cereda C.; Corrado L.; Soraru G.; Williams K. L.; Nicholson G. A.; Blair I. P.; Leblond-Manry C.; Rouleau G. A.; Hardiman O.; Morrison K. E.; Veldink J. H.; Van Den Berg L. H.; Al-Chalabi A.; Pall H.; Shaw P. J.; Turner M. R.; Talbot K.; Taroni F.; Garcia-Redondo A.; Wu Z.; Glass J. D.; Gellera C.; Ratti A.; Brown R. H.; Silani V.; Shaw C. E.; Landers J. E.; Dalgard C. L.; Adeleye A.; Soltis A. R.; Alba C.; Viollet C.; Bacikova D.; Hupalo D. N.; Sukumar G.; Pollard H. B.; Wilkerson M. D.; Martinez E. M.; Abramzon Y.; Ahmed S.; Arepalli S.; Baloh R. H.; Bowser R.; Brady C. B.; Brice A.; Broach J.; Campbell R. H.; Camu W.; Chia R.; Cooper-Knock J.; Ding J.; Drepper C.; Drory V. E.; Dunckley T. L.; Eicher J. D.; England B. K.; Faghri F.; Feldman E.; Floeter M. K.; Fratta P.; Geiger J. T.; Gerhard G.; Gibbs J. R.; Gibson S. B.; Glass J. D.; Hardy J.; Harms M. B.; Heiman-Patterson T. D.; Hernandez D. G.; Jansson L.; Kirby J.; Kowall N. W.; Laaksovirta H.; Landeck N.; Landi F.; Le Ber I.; Lumbroso S.; Macgowan D. J. L.; Maragakis N. J.; Mora G.; Mouzat K.; Murphy N. A.; Myllykangas L.; Nalls M. A.; Orrell R. W.; Ostrow L. W.; Pamphlett R.; Pickering-Brown S.; Pioro E. P.; Pletnikova O.; Pliner H. A.; Pulst S. M.; Ravits J. M.; Renton A. E.; Rivera A.; Robberecht W.; Rogaeva E.; Rollinson S.; Rothstein J. D.; Scholz S. W.; Sendtner M.; Shaw P. J.; Sidle K. C.; Simmons Z.; Singleton A. B.; Smith N.; Stone D. J.; Tienari P. J.; Troncoso J. C.; Valori M.; Van Damme P.; Van Deerlin V. M.; Van Den Bosch L.; Zinman L.; Landers J. E.; Chio A.; Bisogni G.; Borghero G.; Calvo A.; Canosa A.; Casale F.; Chio A.; Colletti T.; Conforti F. L.; Corbo M.; Demarco G.; Dubbioso R.; Ferrarese C.; Ferraro P. M.; Floris G.; Fuda G.; Gianferrari G.; Introna A.; Logroscino G.; Lunetta C.; Mandich P.; Mandrioli J.; Manera U.; Manganelli F.; Martinelli I.; Moglia C.; Pugliatti M.; Ricci C.; Riolo G.; Salamone P.; Sideri R.; Simonini C.; Volanti P.; Zollino M.;pmc: PMC8406220
pmid: 34459874
handle: 20.500.11768/118479 , 11587/499650 , 1887/3251143 , 2318/1806121 , 11591/470415 , 11392/2503361 , 11588/879060 , 11365/1181203 , 20.500.11770/323800 , 11380/1269183 , 2434/867820
pmc: PMC8406220
pmid: 34459874
handle: 20.500.11768/118479 , 11587/499650 , 1887/3251143 , 2318/1806121 , 11591/470415 , 11392/2503361 , 11588/879060 , 11365/1181203 , 20.500.11770/323800 , 11380/1269183 , 2434/867820
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene. Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder. This genetic association study identifies genetic variants associated with juvenile amyotrophic lateral sclerosis.
Europe PubMed Centra... arrow_drop_down Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; JAMA Neurology; Usiena air - Università di Siena; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaArticle . 2021Data sources: Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; Usiena air - Università di Siena; Crossref; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaHELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of HelsinkiLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2021License: CC BYArchivio Istituzionale dell'Università della CalabriaArticle . 2021Data 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.
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For further information contact us at helpdesk@openaire.eu45 citations 45 popularity Top 1% influence Top 10% impulse Top 1% Powered by BIP!visibility 132visibility views 132 download downloads 145 Powered bymore_vert Europe PubMed Centra... arrow_drop_down Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; JAMA Neurology; Usiena air - Università di Siena; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaArticle . 2021Data sources: Archivio Istituzionale della Ricerca- Università del Salento; BOA - Bicocca Open Archive; Archivio Istituzionale (AperTO); Archivio istituzionale della ricerca - Università di Ferrara; Usiena air - Università di Siena; Crossref; The University of Manchester - Institutional Repository; Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele; NARCIS; Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna; IRIS UNIMORE - Archivio istituzionale della ricerca - Università di Modena e Reggio EmiliaHELDA - Digital Repository of the University of HelsinkiArticle . 2021Data sources: HELDA - Digital Repository of the University of HelsinkiLUMC Scholarly Publications; Leiden University Scholarly Publications RepositoryOther literature type . 2021License: CC BYArchivio Istituzionale dell'Università della CalabriaArticle . 2021Data 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.
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For further information contact us at helpdesk@openaire.eudescription Publicationkeyboard_double_arrow_right Preprint , Other literature type 2019Copernicus GmbH EC | QA4ECV, FWF | Vienna horizontal and ver...EC| QA4ECV ,FWF| Vienna horizontal and vertical distribution observations of nitrogen dioxide and aerosolsSebastian Donner; Jonas Kuhn; Michel Van Roozendael; Alkiviadis F. Bais; Steffen Beirle; Tim Bösch; Kristof Bognar; Ilya Bruchkousky; Kalok Chan; Theano Drosoglou; Caroline Fayt; Udo Frieß; François Hendrick; Christian Hermans; Junli Jin; Ang Li; Jianzhong Ma; Enno Peters; Gaia Pinardi; Andreas Richter; Stefan F. Schreier; André Seyler; Kimberly Strong; Jan-Lukas Tirpitz; Yang Wang; Pinhua Xie; Jin Xu; Xiaoyi Zhao; Thomas Wagner;doi: 10.5194/amt-2019-115
Abstract. We present different methods for in-field elevation calibration of MAX-DOAS (Multi AXis Differential Optical Absorption Spectroscopy) instruments that were applied and inter-compared during the second Cabauw Intercomparison campaign for Nitrogen Dioxide measuring Instruments (CINDI-2). One necessary prerequisite of consistent MAX-DOAS retrievals is a precise and accurate calibration of the elevation angles of the different measuring systems. Therefore, different methods for this calibration were applied to 12 instruments from 11 groups during the campaign and the results were inter-compared. This work first introduces and explains the different methods, namely far and near lamp measurements, white/bright stripe scans and horizon scans, using data and results for only one (mainly the MPIC) instrument. In the second part, the far lamp measurements and the horizon scans are examined for all participating groups. Here, the results for both methods are first inter-compared for the different instruments and secondly, the two methods are compared amongst each other. All methods turned out to be well-suited for the calibration of the elevation angles of MAX-DOAS systems, with each of them having individual advantages and drawbacks. Considering the results of this study, the uncertainties of the methods can be estimated as ± 0.05° for the far lamp measurements, ± 0.1° to ± 0.3° for the horizon scans, and around ± 0.1° for the white stripe and near lamp measurements. When comparing the results of far lamp and horizon scan measurements, a spread of around 1° in the elevation calibrations is found between the participating instruments for both methods. This spread is on the order of a typical field of view (FOV) of a MAX-DOAS instrument and therefore, affecting the retrieval results. Further, a consistent (wavelength dependent) offset of 0.31° and 0.40° between far lamp measurements and horizon scans is found, which can be explained by the fact that, despite the flat topography around the measurement site, obstacles such as trees might mark the visible horizon during daytime. The observed wavelength dependence can be explained by surface albedo effects. Lastly, the results are discussed and recommendations for future campaigns are given.
https://doi.org/10.5... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2019Data sources: Copernicus Publicationsadd 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.eu1 citations 1 popularity Average influence Average impulse Average Powered by BIP!more_vert https://doi.org/10.5... arrow_drop_down Atmospheric Measurement Techniques (AMT)Other literature type . 2019Data sources: Copernicus Publicationsadd 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 , Other literature type 2017 United Kingdom, United Kingdom, Sweden, United Kingdom, Italy, Italy, United Kingdom, Croatia, Switzerland, Netherlands, Italy, SpainOvid Technologies (Wolters Kluwer Health) NIH | A Genome-wide Association..., NIH | SUBCLINICAL CARDIOVASCULA..., NWO | Delineating risk factors ... +103 projectsNIH| A Genome-wide Association Study for Early-Onset Myocardial Infarction ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,NWO| Delineating risk factors for the initiation and maintenance of cannabis use, in comparison with tobacco use, in adolescence ,NIH| UCLA Clinical and Translational Science Institute ,UKRI| Automated manufacturing cost estimator and supply chain management portal ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,SNSF| Blood pressure and the kidney: interface between genes and environment ,NIH| CHS-Transition Phase -268055222 ,NWO| NCHA Subsidiebesluit 2008-2012 ,WT| Stratifying Resilience and Depression Longitudinally (STRADL) ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,NIH| CHS Events Follow-up Study ,NIH| From GWAS loci to blood pressure genes, variants & mechanisms ,NIH| Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and Blood ,NWO| A social component of the TRIAL study (a prospective longitudinal study of mental health and social development from pre-puberty into young adulthood) with the development of pro- and antisocial behavior over time ,UKRI| Identification of genetic variants underlying Type 2 Diabetes in UK Indian Asians ,NWO| Tracking Young Adults: wave six of the TRAILS study ,NIH| DYNAMICS OF HEALTH .AGING . AND BODY COMPOSITION /Pittsburgh/-260962101 ,NIH| Limited Competition:Continuation of the Center for Genomic Studies on Mental Disorders (U24) ,NIH| TRIAL OF ASPIRIN AND VITAMIN E IN WOMEN ,NIH| GWA for Gene-Environment Interaction Effects Influencing CHD ,WT| Wellcome Trust Sanger Institute - generic account for deposition of all core- funded research papers ,WT| A national DNA control series for genetic case-control studies based on the British 1958 birth cohort ,FWF| Genetics of Cerebral Small Vessel Disease ,NIH| Institute for Clinical and Translational Research (UL1) ,FWF| MRI white matter abnormalities in the elderly: Genetic risk factors, rate of progression and neuropsychologic consequences ,NIH| Rare variants and NHLBI traits in deeply phenotyped cohorts ,NIH| Genomics of Developmental Trajectories in Twins ,NIH| WGA Study to Identify Genetic Variants Associated with CV Events in CHS ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NIH| Integration of Genomics &Transcriptomics in Normal Twins &Major Depression ,NIH| THE FRAMINGHAM HEART STUDY-268025195 ,WT| The UK Type 2 diabetes genetics consortium case-control collection: a resource for the genetic epidemiology of Type 2 diabetes. ,NWO| Social and psychopathological developments during adolescence: The assessment of mental disorders and contextually rated life events in the large TRAILS cohort ,NIH| CYCLINS AND CHEMICAL CARCINOGENESIS ,SNSF| Family study of specific subthreshold and threshold mood, anxiety, substance use and schizophrenia spectrum syndromes in the general population ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY ,WT| Population pharmacogenetics of statin response. ,EC| EPI-MIGRANT ,NIH| HEALTH ABC--COORDINATING UNIT-260962106 ,NIH| CORONARY HEART DISEASE &STROKE IN THE ELDERLY ,HRZZ| Pleitropy, gene networks and gene pathways in isolated human populations: the 10,001 Dalmatians biobank ,AKA| The Application of 'Omics' to Public Health Epidemiology: Prospective Analysis of the FINRISK 1997 Cohort ,NIH| DYNAMICS OF HEALTH, AGING, AND BODY COMPOSITION-260962103 ,NIH| Genetic analysis of type II diabetes in Finnish population ,NIH| Prospective meta-analyses of drug-gene interactions: CHARGE GWAS consortium ,NIH| Genetic Determinants of Visceral Adiposity ,UKRI| Validation of clinically applicable biomarkers of insulin resistance to explain increased CVD in UK Indian Asians ,SNSF| Cardiovascular diseases and psychiatric disorders in the general population: a prospective follow-up study ,NWO| tweeling onderzoek, met een focus op gedrag en depressie ,NIH| Interstitial Cystitis in Swedish Twins ,NIH| Clinical and Translational Science Award ,WT| WTCCC2 core activities ,NIH| CHS research resources for the cardiovascular health of older adults ,EC| SUMMIT ,NIH| Exceptional aging: 12 year trajectories to function ,EC| BBMRI-LPC ,HRZZ| Pleitropy, gene networks and gene pathways in isolated human populations: the 10,001 Dalmatians biobank ,EC| PHASE ,SNSF| Psychiatric disorders in 35 to 65 year-old residents of the city of Lausanne and their association to cardiovasular risk factors: a population based survey ,FCT| LA 1 ,WT| The genetics of weight, BMI, adiposity and obesity ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE COORDINATING CENTER-268995159 ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-ULTRASOUND ,NIH| Type 1 Diabetes Genetics Consortium ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--EBCT READING ,EC| GMI ,UKRI| MICA: Medical Bioinformatics: Data-Driven Discovery for Personalised Medicine ,WT| Cambridge Institute for Medical Research (CIMR). ,WT| Whole genome strategies for detecting and characterizing complex trait loci. ,EC| CVGENES-AT-TARGET ,EC| ENGAGE ,NIH| CORONARY HEART DISEASE &STROKE IN PEOPLE AGED 65-84 ,NWO| BBMRI-NL ,UKRI| Centre for Cognitive Ageing & Cognitive Epidemiology ,NIH| CHARGE consortium: gene discovery for CVD and aging phenotypes ,UKRI| Assessment of biomedical risk factors and disease outcomes in the British 1958 cohort ,UKRI| Aetiology of type 2 diabetes and related metabolic disorders ,WT| Statistical methods for the analysis of genome-wide association and re-sequencing studies. ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-FIELD CENTER ,SNSF| Cardiovascular diseases and psychiatric disorders in the general population: a prospective follow-up study ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY--FIELD CENTER ,NIH| GENOTYPING FOR LOCATING HUMAN DISEASE GENES ,WT| Understanding the genetic basis of common human diseases: core funding for the Wellcome Trust Centre for Human Genetics. ,NIH| Identifying Genes for Type 2 Diabetes: FUSION ,AKA| Putting Public Health Genomics to practice in Cardiovascular diseases ¿ making sense and use of random associations in the ¿gray area¿ of genomewide association studies / Consortium: PUBGENSENS ,NWO| Gender differences in pathways to depression: the interplay of genes, environment, and (endo)phenotype ,WT| Identification of genetic variants underlying coronary artery disease and associated phenotypes in Indian Asians. ,NWO| Sustainable ammonia synthesis powered by renewable electricity ,NIH| Epidemiology of Venous Thrombosis &Pulmonary Embolism ,NWO| Dissecting genetic complexity of Alzheimer's disease and cognitive function ,NIH| Genetic Epidemiology of Causal Variants across the Life Course Phase II (CALiCo I ,NWO| Tracking Emerging Adults, the fifth wave of the TRAILS study ,AKA| Effects of Physical Activity during Military Training on Metabolomic traits ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY ,AKA| Dietary, life style, and genetic determinants of obesity and metabolic syndrome (DILGOM) ,NIH| The Women's Health Study: Infrastructure Support for Continued Cohort Follow-up ,UKRI| Aetiology of type 2 diabetes and obesity and related metabolic disorders ,NIH| CORONARY HEART DISEASE AND STROKE ,NIH| SUBCLINICAL CARDIOVASCULAR DISEASE STUDY-FIELD CENTER ,MZOS| Determinants of health and disease in general and isolated human populations ,NIH| CENTRAL BLOOD ANALYSIS LABORATORY FOR CHS ,NWO| Cluster computing in genetic linkage studies on human complex traits ,NIH| Major Depression: Stage 1 Genomewide Association in Population-Based Samples ,AKA| Public Health Genomics to Practice in Cardiovascular Diseases / Consortium: PUBGENSENSLouise V. Wain; Ahmad Vaez; Rick Jansen; Roby Joehanes; A. Mesut Erzurumluoglu; Paul F. O'Reilly; Claudia P. Cabrera; Helen R. Warren; Lynda M. Rose; Germaine C. Verwoert; Jouke-Jan Hottenga; Rona J. Strawbridge; Xiuqing Guo; Zoltán Kutalik; Stella Trompet; Nick Shrine; Alexander Teumer; Janina S. Ried; Joshua C. Bis; Albert V. Smith; Najaf Amin; Ilja M. Nolte; Anubha Mahajan; Nicholas J. Wareham; Edith Hofer; Peter K. Joshi; Kati Kristiansson; Michela Traglia; Aki S. Havulinna; Anuj Goel; Dragana Vuckovic; Fabiola M. Del Greco; Kristin L. Ayers; Jaume Marrugat; Daniela Ruggiero; Lorna M. Lopez; Teemu J. Niiranen; Stefan Enroth; Anne U. Jackson; Jennifer E. Huffman; Weihua Zhang; Jonathan Marten; Ilaria Gandin; Sarah E. Harris; Tatijana Zemunik; Nabi Shah; Martin H. de Borst; Massimo Mangino; Bram P. Prins; Ruifang Li-Gao; Ganesh Chauhan; Christopher Oldmeadow; Gonçalo R. Abecasis; Maryam Abedi; Michael R. Barnes; Chiara Batini; John Beilby; Tineka Blake; Michael Boehnke; Peter S. Braund; Morris Brown; Harry Campbell; John C. Chambers; Massimiliano Cocca; Francis S. Collins; John M. C. Connell; Heather J. Cordell; Jeffrey Damman; Gail Davies; Eco J. C. de Geus; Renée de Mutsert; Joris Deelen; Yusuf Demirkale; Alex S. F. Doney; Marcus Dörr; Martin Farrall; Mattias Frånberg; Christian Gieger; Franco Giulianini; Alan J. Gow; Anders Hamsten; Tamara B. Harris; Albert Hofman; Elizabeth G. Holliday; Jennie Hui; Marjo-Riitta Järvelin; Åsa Johansson; Andrew D. Johnson; Mika Kähönen; Sekar Kathiresan; Kay-Tee Khaw; Ivana Kolcic; Seppo Koskinen; Claudia Langenberg; Marty Larson; Lenore J. Launer; Li Lin; Lars Lind; François Mach; Chrysovalanto Mamasoula; Cristina Menni; Borbala Mifsud; Yuri Milaneschi; Anna Morgan; Alanna C. Morrison; Peter J. Munson; Priyanka Nandakumar; Quang Tri Nguyen; Teresa Nutile; Albertine J. Oldehinkel; Elin Org; Sandosh Padmanabhan; Aarno Palotie; Guillaume Paré; Brenda W.J.H. Penninx; Neil Poulter; Peter P. Pramstaller; Olli T. Raitakari; Meixia Ren; Kenneth Rice; Paul M. Ridker; Harriëtte Riese; Samuli Ripatti; Antonietta Robino; Jerome I. Rotter; Igor Rudan; Yasaman Saba; Aude Saint Pierre; Cinzia Sala; Rodney J. Scott; Denis C. Shields; David S. Siscovick; Rossella Sorice; Alice Stanton; David J. Stott; Johan Sundström; Morris A. Swertz; Simon Thom; Ioanna Tzoulaki; Christophe Tzourio; André G. Uitterlinden; Uwe Völker; Peter Vollenweider; Gonneke Willemsen; Alan F. Wright; Jie Yao; Sébastien Thériault; David Conen; Stéphanie Debette; Dennis O. Mook-Kanamori; Eleftheria Zeggini; Tim D. Spector; Pim van der Harst; Colin N. A. Palmer; Anne-Claire Vergnaud; Ruth J. F. Loos; Ozren Polasek; Giorgia Girotto; Caroline Hayward; C M Lindgren; Veronique Vitart; Nilesh J. Samani; Jaakko Tuomilehto; Ulf Gyllensten; Paul Knekt; Ian J. Deary; Marina Ciullo; Roberto Elosua; Bernard Keavney; Andrew A. Hicks; Robert A. Scott; Paolo Gasparini; Maris Laan; Yongmei Liu; Hugh Watkins; Catharina A. Hartman; Veikko Salomaa; Daniela Toniolo; Markus Perola; James F. Wilson; Jing Hua Zhao; Terho Lehtimäki; Cornelia M. van Duijn; Vilmundur Gudnason; Annette Peters; Rainer Rettig; J. Wouter Jukema; David P. Strachan; Walter Palmas; Andres Metspalu; Erik Ingelsson; Dorret I. Boomsma; Oscar H. Franco; Murielle Bochud; Christopher Newton-Cheh; Daniel I. Chasman; Aravinda Chakravarti; Joanne Knight; Andrew P. Morris; Daniel Levy; Martin D. Tobin; Mark J. Caulfield; Georg Ehret;Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project–based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7 , TNXB , LRP12 , LOC283335 , SEPT9 , and AKT2 , and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA . Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation.
CORE (RIOXX-UK Aggre... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryOxford University Research Archive; Hypertension; NARCIS; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017Publikationer från Uppsala UniversitetArticle . 2017Data sources: Publikationer från Uppsala UniversitetNARCIS; HypertensionArticle . 2017add 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.eu108 citations 108 popularity Top 10% influence Top 10% impulse Top 1% Powered by BIP!visibility 28visibility views 28 download downloads 531 Powered bymore_vert CORE (RIOXX-UK Aggre... arrow_drop_down Spiral - Imperial College Digital RepositoryArticle . 2017Data sources: Spiral - Imperial College Digital RepositoryOxford University Research Archive; Hypertension; NARCIS; Croatian Scientific Bibliography - CROSBIOther literature type . Article . 2017Publikationer från Uppsala UniversitetArticle . 2017Data sources: Publikationer från Uppsala UniversitetNARCIS; HypertensionArticle . 2017add 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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