Results 71 to 80 of about 277,505 (282)

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

High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping [PDF]

Nature Protocols, 2009
When combined with haplotype fusion PCR (HF-PCR), ligation haplotyping is a robust, high-throughput method for empirical determination of haplotypes, which can be applied to assaying both sequence and structural variation over long distances. Unlike alternative approaches to haplotype determination, such as allele-specific PCR and long PCR, HF-PCR and ...
Daniel J, Turner, Matthew E, Hurles
openaire   +2 more sources

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Privacy-Preserving Genetic Relatedness Test [PDF]

, 2016
An increasing number of individuals are turning to Direct-To-Consumer (DTC) genetic testing to learn about their predisposition to diseases, traits, and/or ancestry. DTC companies like 23andme and Ancestry.com have started to offer popular and affordable
De Cristofaro, Emiliano, Liang, Kaitai, Zhang, Yuruo   +2 more
core   +1 more source

Improving sequence-based genotype calls with linkage disequilibrium and pedigree information

, 2012
Whole and targeted sequencing of human genomes is a promising, increasingly feasible tool for discovering genetic contributions to risk of complex diseases.
Whittemore, Alice S., Zhou, Baiyu
core   +1 more source

Perfect phylogeny haplotyper: haplotype inferral using a tree model [PDF]

Bioinformatics, 2003
Abstract Summary: We have developed an efficient program, the Perfect Phylogeny Haplotyper (PPH) that takes in unphased population genotype data, and determines if that data can be explained by haplotype pairs that could have evolved on a perfect phylogeny.
Ren Hua, Chung, Dan, Gusfield
openaire   +2 more sources

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +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