Results 41 to 50 of about 189,144 (345)
Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration
Nature Communications, 2019 “Genome-wide association studies have identified variants associated with age-related macular degeneration (AMD); however, other than identifying this as a complement mediated inflammatory disease, little biology has emerged.Madhvi Menon, Shahin Mohammadi, Jose Davila-Velderrain, Brittany A. Goods, Tanina D. Cadwell, Yu Xing, Anat Stemmer-Rachamimov, Alex K. Shalek, John Christopher Love, Manolis Kellis, Brian P. Hafler +10 moredoaj +1 more sourceSequencing-based genome-wide association studies reporting standards
Cell Genomics, 2021 Summary: Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants.Aoife McMahon, Elizabeth Lewis, Annalisa Buniello, Maria Cerezo, Peggy Hall, Elliot Sollis, Helen Parkinson, Lucia A. Hindorff, Laura W. Harris, Jacqueline A.L. MacArthur +9 moredoaj +1 more sourceGenetic associations with childhood brain growth, defined in two longitudinal cohorts [PDF]
, 2018 Genome-wide association studies (GWASs) are unraveling the genetics of adult brain neuroanatomy as measured by cross-sectional anatomic magnetic resonance imaging (aMRI). However, the genetic mechanisms that shape childhood brain development are, as yet, Jansen, Philip R., Justice, Cristina M., Muetzel, Ryan L., Sabourin, Jeremy A., Schwantes-An, Tae-Hwi Linus, Sharp, Wendy, Shaw, Philip, Sung, Heejong, Szekely, Eszter, Tiemeier, Henning, White, Tonya J., Wilson, Alexander F. +11 morecore +1 more sourceComprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
PLoS Genetics, 2012 More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD). To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensively ...Christina M Lill, Johannes T Roehr, Matthew B McQueen, Fotini K Kavvoura, Sachin Bagade, Brit-Maren M Schjeide, Leif M Schjeide, Esther Meissner, Ute Zauft, Nicole C Allen, Tian Liu, Marcel Schilling, Kari J Anderson, Gary Beecham, Daniela Berg, Joanna M Biernacka, Alexis Brice, Anita L DeStefano, Chuong B Do, Nicholas Eriksson, Stewart A Factor, Matthew J Farrer, Tatiana Foroud, Thomas Gasser, Taye Hamza, John A Hardy, Peter Heutink, Erin M Hill-Burns, Christine Klein, Jeanne C Latourelle, Demetrius M Maraganore, Eden R Martin, Maria Martinez, Richard H Myers, Michael A Nalls, Nathan Pankratz, Haydeh Payami, Wataru Satake, William K Scott, Manu Sharma, Andrew B Singleton, Kari Stefansson, Tatsushi Toda, Joyce Y Tung, Jeffery Vance, Nick W Wood, Cyrus P Zabetian, 23andMe Genetic Epidemiology of Parkinson's Disease Consortium, International Parkinson's Disease Genomics Consortium, Parkinson's Disease GWAS Consortium, Wellcome Trust Case Control Consortium 2), Peter Young, Rudolph E Tanzi, Muin J Khoury, Frauke Zipp, Hans Lehrach, John P A Ioannidis, Lars Bertram +57 moredoaj +1 more sourceGenetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.
PLoS ONE, 2010 BackgroundLate Onset Alzheimer's disease (LOAD) is the leading cause of dementia. Recent large genome-wide association studies (GWAS) identified the first strongly supported LOAD susceptibility genes since the discovery of the involvement of APOE in the ...Lesley Jones, Peter A Holmans, Marian L Hamshere, Denise Harold, Valentina Moskvina, Dobril Ivanov, Andrew Pocklington, Richard Abraham, Paul Hollingworth, Rebecca Sims, Amy Gerrish, Jaspreet Singh Pahwa, Nicola Jones, Alexandra Stretton, Angharad R Morgan, Simon Lovestone, John Powell, Petroula Proitsi, Michelle K Lupton, Carol Brayne, David C Rubinsztein, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Kevin Morgan, Kristelle S Brown, Peter A Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Clive Holmes, David Mann, A David Smith, Seth Love, Patrick G Kehoe, Simon Mead, Nick Fox, Martin Rossor, John Collinge, Wolfgang Maier, Frank Jessen, Britta Schürmann, Reinhard Heun, Heike Kölsch, Hendrik van den Bussche, Isabella Heuser, Oliver Peters, Johannes Kornhuber, Jens Wiltfang, Martin Dichgans, Lutz Frölich, Harald Hampel, Michael Hüll, Dan Rujescu, Alison M Goate, John S K Kauwe, Carlos Cruchaga, Petra Nowotny, John C Morris, Kevin Mayo, Gill Livingston, Nicholas J Bass, Hugh Gurling, Andrew McQuillin, Rhian Gwilliam, Panos Deloukas, Ammar Al-Chalabi, Christopher E Shaw, Andrew B Singleton, Rita Guerreiro, Thomas W Mühleisen, Markus M Nöthen, Susanne Moebus, Karl-Heinz Jöckel, Norman Klopp, H-Erich Wichmann, Eckhard Rüther, Minerva M Carrasquillo, V Shane Pankratz, Steven G Younkin, John Hardy, Michael C O'Donovan, Michael J Owen, Julie Williams +83 moredoaj +1 more sourceVariants in the fetal genome near FLT1 are associated with risk of preeclampsia. [PDF]
, 2017 : Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility.Bumpstead, S, Cameron, A, Casas, JP, Caulfield, M, Chappell, S, COLLABORATORS, Dolby, VA, Dominiczak, AF, Dominiczak, AF, Dudbridge, F, Engel, SM, Farrall, M, FINNPEC Consortium, Geirsson, RT, Gjessing, HK, GOPEC Consortium, Habiba, M, Haugan, A, Heinonen, S, Hiby, S, Hildyard, L, Hjartardottir, S, Iversen, AC, Jääskeläinen, T, Kajantie, E, Kajantie, E, Kalsheker, N, Kalsheker, N, Kemp, JP, Kere, J, Kilby, M, Kivinen, K, Laivuori, H, Laivuori, H, Lawlor, DA, Lee, WK, Macphail, S, Magnus, P, McGinnis, R, Miedzybrodzka, Z, Moffett, A, Morgan, L, Morgan, L, Najmutdinova, D, O'Brien, S, O'Shaughnessy, K, Padmanabhan, S, Pipkin, FB, Pipkin, FB, Poston, L, Pouta, A, Redman, CWG, Shooter, S, Sigurdsson, JK, Silva, GB, Simpson, NAB, Staines-Urias, E, Stefansdottir, L, Stefansson, K, Steinthorsdottir, V, Svyatova, G, Thomsen, LCV, Thorleifsson, G, Thorsteinsdottir, U, Trogstad, L, Walker, JJ, Walker, JJ, Williams, NO, Williamson, C, Zakhidova, N +69 morecore +6 more sourcesEvaluation of shared genetic susceptibility loci between autoimmune diseases and schizophrenia based on genome-wide association studies. [PDF]
, 2016 BACKGROUND: Epidemiological studies have documented higher than expected comorbidity (or, in some cases, inverse comorbidity) between schizophrenia and several autoimmune disorders.Hansen, T, Hoeffding, LK, Rosengren, A, Schmock, H, Thygesen, JH, Werge, T +5 morecore +1 more sourceLarge‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation
FEBS Open Bio, EarlyView.Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco +11 morewiley +1 more source
