SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:DiVA.org:oru-102658"
 

Sökning: onr:"swepub:oai:DiVA.org:oru-102658" > Whole-exome rare-va...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00013949naa a2200985 4500
001oai:DiVA.org:oru-102658
003SwePub
008221213s2023 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:151665206
009oai:gup.ub.gu.se/322025
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-1026582 URI
0247 a https://doi.org/10.1002/alz.128422 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1516652062 URI
0247 a https://gup.ub.gu.se/publication/3220252 URI
040 a (SwePub)orud (SwePub)kid (SwePub)gu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Küçükali, Fahriu Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium4 aut
2451 0a Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits
264 c 2022-12-04
264 1b John Wiley & Sons,c 2023
338 a print2 rdacarrier
500 a Funding agencies:European Medical Information Framework for Alzheimer's Disease (EMIF-AD)Innovative Medicines Initiative Joint Undertaking under the European Medical Information Framework (EMIF) 115372European Prevention of Alzheimer's Dementia (EPAD) 115736European Commission 860197  European Federation of Pharmaceutical Industries and Association (EFPIA) - European Commission within the fifth framework program QLRT-2001-2455European Commission within the fifth framework program 37670Department of Health of the Basque Government (allocation) 17.0.1.08.12.0000.2.454.01.41142.001Stichting voor Alzheimer Onderzoek 11020 13007 15005 Swiss National Science Foundation (SNSF) SNF 320030_141179  Synapsis Foundation - Alzheimer Research Switzerland 2017-PI01University of Antwerp Research FundEuropean Commission European Research Council (ERC) 681712  Swedish State Support for Clinical Research ALFGBG-720931Alzheimer Drug Discovery Foundation (ADDF), USA 201809-2016862AD Strategic FundAlzheimer's AssociationOlav Thon FoundationErling-Persson Family FoundationUK Dementia Research Institute at University College LondonNational Institute for Health and Care Research (NIHR) biomedical research centre at University College London Hospitals (UCLH)Instituto de Salud Carlos IIIDemensfonden, StockholmUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA U01 AG024904  DOD ADNI (Department of Defense) W81XWH-12-2-0012 United States Department of Health & Human ServicesNIH National Institute on Aging (NIA) United States Department of Health & Human ServicesNIH National Institute of Biomedical Imaging & Bioengineering (NIBIB)Alzheimer's Drug Discovery FoundationAraclon BiotechBiogenBristol-Myers SquibbCereSpir, Inc.CogState LimitedElan Pharmaceuticals, Inc.Eli LillyEuroImmunHoffmann-La RocheFujirebioJohnson & Johnson USAMerck & CompanyMeso Scale DiagnosticsNeuroRx ResearchNovartisPiramal ImagingTakeda Pharmaceutical Company LtdCanadian Institutes of Health Research (CIHR)ADNI clinical sites in CanadaUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA Northern California Institute for Research and EducationLaboratory for Neuro Imaging at the University of Southern CaliforniaNIH National Institute of Neurological Disorders & Stroke (NINDS) U01 AG024904  NIH National Institute on Aging (NIA)NIH National Institute of Biomedical Imaging & Bioengineering (NIBIB)AbbVieCogState LimitedHoffmann-La RocheRoche HoldingGenentechGeneral ElectricGE HealthcareIXICO Ltd.LumosityLundbeck CorporationNeuroRx Research; Neurotrack TechnologiesPfizer Inc.Piramal ImagingServierTransition TherapeuticsDNI clinical sites in Canada
520 a INTRODUCTION: Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD-related biomarker traits indicative of AD-relevant pathophysiological processes.METHODS: We performed whole-exome gene-based rare-variant association studies (RVASs) of 17 AD-related traits on whole-exome sequencing (WES) data generated in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study (n = 450) and whole-genome sequencing (WGS) data from ADNI (n = 808).RESULTS: Mutation screening revealed a novel probably pathogenic mutation (PSEN1 p.Leu232Phe). Gene-based RVAS revealed the exome-wide significant contribution of rare coding variation in RBKS and OR7A10 to cognitive performance and protection against left hippocampal atrophy, respectively.DISCUSSION: The identification of these novel gene-trait associations offers new perspectives into the role of rare coding variation in the distinct pathophysiological processes culminating in AD, which may lead to identification of novel therapeutic and diagnostic targets.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
653 a Alzheimer's disease
653 a biomarkers
653 a endophenotypes
653 a rare coding variants
653 a whole-exome sequencing
653 a Alzheimer's disease
653 a biomarkers
653 a endophenotypes
653 a rare coding variants
653 a whole-exome sequencing
7001 a Neumann, Alexanderu Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium4 aut
7001 a Van Dongen, Jasperu Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium4 aut
7001 a De Pooter, Timu Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium4 aut
7001 a Joris, Geertu Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium4 aut
7001 a De Rijk, Peteru Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium4 aut
7001 a Ohlei, Olenau Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany4 aut
7001 a Dobricic, Valerijau Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany4 aut
7001 a Bos, Isabelleu Netherlands Institute for Health Services Research, Utrecht, Netherlands4 aut
7001 a Vos, Stephanie J. B.u Alzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands4 aut
7001 a Engelborghs, Sebastiaanu Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Brussels Integrated Center for Brain and Memory (Bru-BRAIN), Universitair Ziekenhuis Brussel (UZ Brussel) and Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB), Brussels, Belgium4 aut
7001 a De Roeck, Ellenu Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium4 aut
7001 a Vandenberghe, Riku University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium4 aut
7001 a Gabel, Silvyu University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium4 aut
7001 a Meersmans, Karenu University Hospital Leuven, Leuven, Belgium; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium4 aut
7001 a Tsolaki, Magdau 1st Department of Neurology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Makedonia, Thessaloniki, Greece4 aut
7001 a Verhey, Fransu Alzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, Netherlands; School for Mental Health and Neuroscience, Maastricht University, Maastricht, Netherlands4 aut
7001 a Martinez-Lage, Pablou Center for Research and Advanced Therapies, CITA-Alzheimer Foundation, San Sebastian, Spain4 aut
7001 a Tainta, Mikelu Center for Research and Advanced Therapies, CITA-Alzheimer Foundation, San Sebastian, Spain4 aut
7001 a Frisoni, Giovanniu Department of Psychiatry, Faculty of Medicine, Geneva University Hospitals, Geneva, Switzerland; RCCS Instituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy4 aut
7001 a Blin, Oliveru Clinical Pharmacology & Pharmacovigilance Department, Marseille University Hospital, Marseille, France4 aut
7001 a Richardson, Jill C.u Neurosciences Therapeutic Area, GlaxoSmithKline R&D, Stevanage, United Kingdom4 aut
7001 a Bordet, Régisu Neuroscience & Cognition, CHU de Lille, University of Lille, Inserm, France4 aut
7001 a Scheltens, Philipu Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands; Alzheimer's Disease Neuroimaging Initiative (ADNI)4 aut
7001 a Popp, Juliusu Department of Geriatric Psychiatry, University Hospital of Psychiatry Zürich, Zürich, Switzerland; Department of Psychiatry, Old Age Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland4 aut
7001 a Peyratout, Gwendolineu Department of Psychiatry, University Hospital of Lausanne, Lausanne, Switzerland4 aut
7001 a Johannsen, Peteru Clinical Drug Development, Novo Nordisk, Copenhagen, Denmark4 aut
7001 a Frölich, Lutzu Department of Geriatric Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany4 aut
7001 a Freund-Levi, Yvonne,d 1956-u Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Departments of Geriatrics, University Hospital Örebro, Örebro, Sweden; Department of Clinical Science and Education, Södertälje Hospital, Södersjukhuset Karolinska Institutet, Stockholm, Sweden4 aut0 (Swepub:oru)yfi
7001 a Streffer, Johannesu Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium4 aut
7001 a Lovestone, Simonu Department of Psychiatry, University of Oxford, Oxford, United Kingdom; Janssen Medical Ltd, High Wycombe, United Kingdom4 aut
7001 a Legido-Quigley, Cristinau Steno Diabetes Center, Copenhagen, Denmark; Institute of Pharmaceutical Sciences, King's College London, London, United Kingdom4 aut
7001 a Kate, Mara Tenu Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, Netherlands4 aut
7001 a Barkhof, Frederiku Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, Netherlands; Queen Square Institute of Neurology and Centre for Medical Image Computing, University College London, London, United Kingdom4 aut
7001 a Zetterberg, Henrik,d 1973u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xzethe
7001 a Bertram, Larsu Lübeck Interdisciplinary Platform for Genome Analytics (LIGA), University of Lübeck, Lübeck, Germany; Centre for Lifespan Changes in Brain and Cognition, University of Oslo, Oslo, Norway4 aut
7001 a Strazisar, Mojcau Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium4 aut
7001 a Visser, Pieter Jelleu Alzheimer Centrum Limburg, Maastricht University, Maastricht, Netherlands; Alzheimer Center and Department of Neurology, VU University Medical Center, Amsterdam, Netherlands4 aut
7001 a Van Broeckhoven, Christineu Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium4 aut
7001 a Sleegers, Kristelu Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium4 aut
7001 a EMIF-AD Study Group, -4 ctb
7102 a Complex Genetics of Alzheimer's Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgiumb Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium4 org
7730 t Alzheimer's & Dementiad : John Wiley & Sonsg 19:6, s. 2317-2331q 19:6<2317-2331x 1552-5260x 1552-5279
8564 u https://doi.org/10.1002/alz.12842y Fulltext
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-102658
8564 8u https://doi.org/10.1002/alz.12842
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:151665206
8564 8u https://gup.ub.gu.se/publication/322025

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy