Results 51 to 60 of about 1,791,159 (252)

QQ plots of single-variant association test statistics for all exonic variants (A) and for exonic variants with MAF>5% (B).

, 2014
QQ plots of single-variant association test statistics for all exonic variants (A) and for exonic variants with MAF>5% (B).
Scott A. Jelinsky (558484), Ian P. Hall (110307), David Nickle (439518), Iain Kilty (38039), Eleftheria Zeggini (21702), James P. Cook (558486), Martin D. Tobin (110311), Corry-Anke Brandsma (41865), Ian Sayers (37266), Ciara Vangjeli (558483), Sally John (23500), Ma'en Obeidat (110232), Don D. Sin (116489), Nick R. G. Shrine (558485), Tim D. Spector (108990), Michael A. Portelli (558482), Louise V. Wain (110260), Tricia McKeever (347714), Yohan Bossé (69571), Anders Malarstig (108961), Shrina Patel (558487), Edward J. Hollox (24965), María Soler Artigas (110124)   +22 more
core   +1 more source

Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families.

PLoS ONE, 2022
Carotid plaque is a subclinical measure of atherosclerosis. We have previously shown measures of carotid plaque to be heritable in a sample of 100 Dominican families and found evidence for linkage and association of common variants (CVs) on 7q36, 11p15 ...
Nicole D Dueker, Ashley Beecham, Liyong Wang, Chuanhui Dong, Ralph L Sacco, Susan H Blanton, Tatjana Rundek   +6 more
doaj   +3 more sources

Source of variant Creutzfeldt-Jakob disease outside United Kingdom. [PDF]

, 2007
We studied the occurrence of variant Creutzfeldt-Jakob disease (vCJD) outside the United Kingdom in relation to the incidence of indigenous bovine spongiform encephalopathy (BSE) and to the level of live bovines and bovine products imported from the UK ...
Cousens, Simon N, Cornelia M. van Duijn, Sanchez-Juan, Pascual, Pascual Sanchez-Juan, Will, Robert G, van Duijn, Cornelia M, Robert G. Will, Pascual Sanchez-Juan, Simon N. Cousens   +8 more
core   +1 more source

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature, 2012
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified. To identify further genetic risk factors, here we assess the role of de novo mutations
B. Neale, Y. Kou, Li Liu, Avi Ma’ayan, K. Samocha, A. Sabo, Chiao-Feng Lin, Christine R. Stevens, Li-San Wang, Vladimir Makarov, P. Polak, Seungtai Yoon, Jared Maguire, Emily L. Crawford, N. Campbell, Evan T. Geller, O. Valladares, C.Scott Shafer, Han Liu, Tuo Zhao, G. Cai, J. Lihm, R. Dannenfelser, O. Jabado, Zuleyma Peralta, U. Nagaswamy, D. Muzny, J. Reid, I. Newsham, Yuan-Qing Wu, L. Lewis, Yi Han, B. Voight, Elaine T. Lim, E. Rossin, Andrew W. Kirby, J. Flannick, M. Fromer, K. Shakir, T. Fennell, K. Garimella, E. Banks, R. Poplin, S. Gabriel, M. DePristo, Jack R. Wimbish, Braden E. Boone, Shawn E. Levy, C. Betancur, S. Sunyaev, E. Boerwinkle, J. Buxbaum, E. Cook, B. Devlin, R. Gibbs, K. Roeder, G. Schellenberg, J. Sutcliffe, M. Daly   +58 more
semanticscholar   +1 more source

Expression and modulation of CD44 variant isoforms in humans [PDF]

, 1994
CD44 is a ubiquitous surface molecule that exists as a number of isoforms, generated by alternative splicing of 10 "variant" exons. Little is known about the expression and function of the variant isoforms, except that certain isoforms may play a role in
Mackay, C. R., H Stark, Günthert, U., Stauder, R., HJ Terpe, Stark, H., R Stauder, U Günthert, Terpe, H. J., Marston, W. L., WL Marston, CR Mackay   +11 more
core   +1 more source

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov   +4 more
doaj   +1 more source

Known exonic SNPs in LRP6.

, 2012
(A) LRP6 gene card with locations of exonic SNPs published in the NCBI SNPdb. Variants which lead to an amino acid exchange are marked in red. A deletion mutation causing a different protein chain is marked in blue, silent variants are marked in green ...
Jan Wehkamp (61924), Michael Gersemann (181332), Zora Teltschik (181283), Walter Reinisch (181350), Derek Jewell (181345), Paul Rutgeerts (69805), Irmgard Kübler (181328), Guoxing Wang (181313), Rachel Cooney (181338), Eduard F. Stange (181358), Maureen J. Koslowski (181279), Séverine Vermeire (69792), Julia Beisner (181291), Elke Schaeffeler (181302), Matthias Schwab (181355)   +14 more
core   +1 more source

Familial currarino syndrome caused by a deep intronic variant resulting in missplicing of MNX1

Rare
Currarino syndrome (CS) is an autosomal dominant multiple congenital anomalies syndrome characterised by a triad of anorectal malformations, presacral masses, and sacral defects.
Em C. Jameson, Zandra A. Jenkins, Candice Feben, Kate Gibson, David Markie, Stephen P. Robertson, Benjamin J. Halliday   +6 more
doaj   +1 more source

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Neurobiology of Disease, 2014
Gephyrin is a postsynaptic scaffolding protein, essential for the clustering of glycine and γ-aminobutyric acid type-A receptors (GABAARs) at inhibitory synapses. An impairment of GABAergic synaptic inhibition represents a key pathway of epileptogenesis.
Borislav Dejanovic, Dennis Lal, Claudia B. Catarino, Sita Arjune, Abdel A. Belaidi, Holger Trucks, Christian Vollmar, Rainer Surges, Wolfram S. Kunz, Susanne Motameny, Janine Altmüller, Anna Köhler, Bernd A. Neubauer, EPICURE Consortium, Peter Nürnberg, Soheyl Noachtar, Günter Schwarz, Thomas Sander   +17 more
doaj   +1 more source

Mice carrying a schizophrenia-associated mutation of the Arhgap10 gene are vulnerable to the effects of methamphetamine treatment on cognitive function: association with morphological abnormalities in striatal neurons

Molecular Brain, 2021
We recently found a significant association between exonic copy-number variations in the Rho GTPase activating protein 10 (Arhgap10) gene and schizophrenia in Japanese patients.
Kazuhiro Hada, Bolati Wulaer, Taku Nagai, Norimichi Itoh, Masahito Sawahata, Akira Sobue, Hiroyuki Mizoguchi, Daisuke Mori, Itaru Kushima, Toshitaka Nabeshima, Norio Ozaki, Kiyofumi Yamada   +11 more
doaj   +1 more source