Results 11 to 20 of about 1,791,159 (252)

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder [PDF]

Molecular Psychiatry, 2021
Bipolar disorder (BD) is a serious mental illness with substantial common variant heritability. However, the role of rare coding variation in BD is not well established.
Xiaoming Jia, Fernando S. Goes, A. Locke, D. Palmer, Weiqing Wang, S. Cohen-Woods, G. Genovese, A. Jackson, Chen Jiang, M. Kvale, N. Mullins, Hoang T. Nguyen, M. Pirooznia, M. Rivera, D. Ruderfer, Ling Shen, K. Thai, M. Zawistowski, Yongwen Zhuang, G. Abecasis, H. Akil, Sarah E. Bergen, Margit Burmeister, Sinéad B. Chapman, M. Delabastide, A. Jureus, H. Kang, Pui-Yan Kwok, Jun Z. Li, Shawn E. Levy, Eric T. Monson, J. Moran, J. Sobell, S. Watson, Virginia L. Willour, S. Zöllner, R. Adolfsson, D. Blackwood, M. Boehnke, G. Breen, A. Corvin, Nick Craddock, A. Di Florio, C. Hultman, M. Landén, Cathryn M. Lewis, Steve A. McCarroll, W. R. McCombie, P. Mcguffin, A. McIntosh, A. McQuillin, D. Morris, Richard M. Myers, M. O'Donovan, R. Ophoff, Marco P. M. Boks, René S. Kahn, Willem H. Ouwehand, M. Owen, C. Pato, M. Pato, D. Posthuma, J. Potash, A. Reif, P. Sklar, J. Smoller, P. Sullivan, J. Vincent, J. Walters, B. Neale, S. Purcell, N. Risch, Catherine Schaefer, E. Stahl, P. Zandi, Laura J. Scott   +75 more
semanticscholar   +5 more sources

Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits

Genes, 2022
Background: The common non-synonymous mutation of the glucokinase regulator (GCKR) gene, namely rs1260326, is widely reported to have pleiotropic effects on cardio-metabolic traits and hematological parameters.
K. Yeh, L. Hsu, Ming-Sheng Teng, Semon Wu, Hsin-Hua Chou, Y. Ko   +5 more
semanticscholar   +2 more sources

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer. [PDF]

Mol Oncol
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Lassche G, van Ruitenbeek NJ, Adang C, O'Gorman L, Lee PY, Klein WM, van Engen-van Grunsven ACH, Schalken JA, Bervoets S, Verhaegh GW, van Herpen CML.   +10 more
europepmc   +2 more sources

AIDS and food insecurity: ‘New variant famine’ in Malawi? [PDF]

, 2007
In the midst of the 2002/3 food crisis in Southern Africa social scientists De Waal and Whiteside (well known for their respective work on the social construction of famines and the socio-economic impacts of AIDS in sub-Saharan Africa), hypothesised in ...
Ansell, N, Chipeta, L, van Blerk, L, Robson, E, Hajdu, F   +4 more
core   +7 more sources

The ERBB2 Exonic Variant Pro1170Ala Modulates Mitogen-Activated Protein Kinase Signaling Cascades and Associates with Allergic Asthma

International Archives of Allergy and Immunology, 2023
Introduction: Previous studies have indicated the ERBB2 genetic variants in the 17q12 locus might be associated with asthma; however, the functional effects of these variants on asthma risk remain inconclusive.
Y. Sio, Wei-Liang Gan, Wing-Shan Ng, S. Matta, Yee-How Say, K. F. Teh, Y. Wong, Smyrna Moti Rawanan Shah, K. Reginald, F. Chew   +9 more
semanticscholar   +1 more source

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Human Mutation, 2022
Modeling splicing is essential for tackling the challenge of variant interpretation as each nucleotide variation can be pathogenic by affecting pre‐mRNA splicing via disruption/creation of splicing motifs such as 5′/3′ splice sites, branch sites, or ...
R. Leman, B. Parfait, D. Vidaud, E. Girodon, Laurence Pacot, G. Le Gac, C. Ka, C. Férec, Y. Fichou, Céline Quesnelle, Camille Aucouturier, Etienne Muller, D. Vaur, L. Castéra, Flavie Boulouard, Agathe Ricou, Hélène Tubeuf, O. Soukarieh, P. Gaildrat, F. Riant, M. Guillaud-Bataille, S. Caputo, V. Caux‐Moncoutier, N. Boutry-Kryza, F. Bonnet-Dorion, I. Schultz, M. Rossing, O. Quenez, Louis Goldenberg, V. Harter, M. Parsons, A. Spurdle, T. Frebourg, A. Martins, C. Houdayer, S. Krieger   +35 more
semanticscholar   +1 more source

Rare Variant Analysis and Molecular Dynamics Simulation in Alzheimer’s Disease Identifies Exonic Variants in FLG

Genes, 2022
Background: Although an increasing number of common variants contributing to Alzheimer’s disease (AD) are uncovered by genome-wide association studies, they can only explain less than half of the heritability of AD. Rare variant association studies (RVAS)
Weixue Xiong, Jiahui Cai, Rui-Jia Li, Canhong Wen, Haizhu Tan   +4 more
semanticscholar   +1 more source

Targeted deep resequencing identifies coding variants in the PEAR1 gene that play a role in platelet aggregation. [PDF]

PLoS ONE, 2013
Platelet aggregation is heritable, and genome-wide association studies have detected strong associations with a common intronic variant of the platelet endothelial aggregation receptor1 (PEAR1) gene both in African American and European American ...
Yoonhee Kim, Bhoom Suktitipat, Lisa R Yanek, Nauder Faraday, Alexander F Wilson, Diane M Becker, Lewis C Becker, Rasika A Mathias   +7 more
doaj   +1 more source

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma

Endocrine Connections, 2021
Objective: The literature regarding gonadoblastoma risk in exonic Wilms’ tumor suppressor gene (WT1) pathogenic variants is sparse. The aim of this study is to describe the phenotypic and genotypic characteristics of Asian–Indian patients with WT1 ...
Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, Tushar R Bandgar   +9 more
doaj   +1 more source

Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism

Head & Face Medicine, 2021
Introduction The purpose of this study was to systematically identify variants in NOTCH signaling pathway genes that correlate with mandibular prognathism (MP) in the general Chinese population.
Xianzhuo Han, Xueyan Xiong, Xiujuan Shi, Fengshan Chen, Yongming Li   +4 more
doaj   +1 more source