Results 71 to 80 of about 209,468 (302)

Haplotype-resolved IVP101 genome sequence

Haplotype resolved IVP101 genome ...
Pei Wang (17860763)
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Variants in the Upstream Region of the Insulin Receptor Substrate-1 Gene Is Associated with Major Depressive Disorder in the Han Chinese Population

Neuropsychiatric Disease and Treatment, 2020
Fan Wang,1,2 Shunying Yu,3 Rubai Zhou,1 Ruizhi Mao,1 Guoqing Zhao,1,4 Xiaoyun Guo,1 Qingqing Xu,3 Jun Chen,1 Chen Zhang,1 Yiru Fang1,5,6 1Division of Mood Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine ...
Wang F, Yu S, Zhou R, Mao R, Zhao G, Guo X, Xu Q, Chen J, Zhang C, Fang Y   +9 more
doaj  

Genetic variation at the FADS1-FADS2 gene locus influences delta-5 desaturase activity and LC-PUFA proportions after fish oil supplement[S]

Journal of Lipid Research, 2013
Delta-5 and delta-6 desaturases (D5D and D6D) are key enzymes in endogenous synthesis of long-chain PUFAs. In this sample of healthy subjects (n = 310), genotypes of single nucleotide polymorphisms (SNPs) rs174537, rs174561, and rs3834458 in the FADS1 ...
Maryam Al-Hilal, Aseel AlSaleh, Zoitsa Maniou, Fiona J. Lewis, Wendy L. Hall, Thomas A.B. Sanders, Sandra D. O'Dell   +6 more
doaj   +1 more source

Steelhead (Oncorhynchus mykiss) lineages and sexes show variable patterns of association of adult migration timing and age‐at‐maturity traits with two genomic regions

Evolutionary Applications, 2020
As life history diversity plays a critical role in supporting the resilience of exploited populations, understanding the genetic basis of those life history variations is important for conservation management.
Stuart C. Willis, Jon E. Hess, Jeff K. Fryer, John M. Whiteaker, Chris Brun, Ryan Gerstenberger, Shawn R. Narum   +6 more
doaj   +1 more source

Association Between Genetic Ancestry and Multiple Sclerosis Severity

Annals of Neurology, EarlyView.
Objective The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). Methods Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array. Genetic ancestry was inferred using
Benjamin M. Jacobs, Emily Tregaskis‐Daniels, Luisa Schalk, Jakub Nagrodski, ADAMS investigators, Michelle Peter, Rashmi Kaimal, Roxanne Murray, Sadid Hoque, Terri‐Louise Brown, Ghaniah Hassan‐Smith, Helen L. Ford, Bruno Gran, Karim L. Kreft, Cord Spilker, Outi Quinn, David Rog, Miriam Mattoscio, Elisa Visentin, Ramya Shamji, Grace Fawehinmi, Katila George, Maria Papachatzaki, Katharine Harding, Rod Middleton, Tarunya Arun, Waqar Rashid, Adil Harroud, Huw R. Morris, Eli Silber, Gavin Giovannoni, Alastair J. Noyce, Ruth Dobson   +32 more
wiley   +1 more source

Haplotype inference for present–absent genotype data using previously identified haplotypes and haplotype patterns [PDF]

Bioinformatics, 2007
AbstractMotivation: Killer immunoglobulin-like receptor (KIR) genes vary considerably in their presence or absence on a specific regional haplotype. Because presence or absence of these genes is largely detected using locus-specific genotyping technology, the distinction between homozygosity and hemizygosity is often ambiguous.
Yun Joo Yoo, Jianming Tang 0002, Richard A. Kaslow, Kui Zhang   +3 more
openaire   +3 more sources

cytb haplotype dataset

, 2016
NEXUS file containing the 'cytb haplotype' dataset alignment, which includes 106 ingroup cytochrome b haplotype sequences plus 86 outgroup ...
Michael Tobler (357088), Jerald B. Johnson (160069), Prosanta Chakrabarty (309818), Justin C. Bagley (160060), Caleb D. McMahan (447868), Wilfredo Matamoros (3196863)   +5 more
core   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

eLife, 2016
Targeted sequencing of sixteen SLE risk loci among 1349 Caucasian cases and controls produced a comprehensive dataset of the variations causing susceptibility to systemic lupus erythematosus (SLE). Two independent disease association signals in the HLA-D
Prithvi Raj, Ekta Rai, Ran Song, Shaheen Khan, Benjamin E Wakeland, Kasthuribai Viswanathan, Carlos Arana, Chaoying Liang, Bo Zhang, Igor Dozmorov, Ferdicia Carr-Johnson, Mitja Mitrovic, Graham B Wiley, Jennifer A Kelly, Bernard R Lauwerys, Nancy J Olsen, Chris Cotsapas, Christine K Garcia, Carol A Wise, John B Harley, Swapan K Nath, Judith A James, Chaim O Jacob, Betty P Tsao, Chandrashekhar Pasare, David R Karp, Quan Zhen Li, Patrick M Gaffney, Edward K Wakeland   +28 more
doaj   +1 more source