Results 81 to 90 of about 275,736 (271)

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

Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]

, 2011
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte, G. Diane Shelton, Geneviève Aubin-Houzelstein, Inès Barthélémy, Jacques Penderis, Jean-Jacques Panthier, Jean-Laurent Thibaud, Jérôme Mary, Laurent Guillaud, Laurent Tiret, Manuel Pelé, Marie Maurer, Marilyn Fender, Natasha Olby, Reiner Albert Veitia, Stéphane Blot, Thomas Bilzer   +16 more
core   +6 more sources

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

A Novel GmSIN1‐GmRNF1a‐GmCSN5a Module Determines Soybean Salt Tolerance and Yield Under Saline Soil Conditions

Advanced Science, EarlyView.
Soybean production is severely threatened by salt stress. This study reveals that the GmSIN1‐GmRNF1a‐GmCSN5a module enhances salt tolerance by stabilizing the GmSIN1 protein. GmRNF1a acts as an E3 ligase to ubiquitinate GmSIN1 for degradation, a process inhibited by GmCSN5a.
Jinlong Xu, Mengqi Shan, Xinxin Yang, Rongmei Zhao, Mengke Zhang, Guohua Bao, Lili Wang, Mingru Li, Wenjiao Zhi, Muzi Wang, Tianshi Liu, Xiaojian Zheng, Wenyu Zheng, Qing Lu, Shuo Li, Fengning Xiang   +15 more
wiley   +1 more source

inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]

, 2014
Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter, Nieselt, Kay, Peltzer, Alexander   +2 more
core   +3 more sources

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

The Longitudinal Effect of APOL1 Risk Alleles on Sickle Cell Anemia‐Associated Kidney Function

American Journal of Hematology, EarlyView.
ABSTRACT Progressive kidney injury is a major cause of morbidity and mortality in sickle cell anemia (SCA). The high risk APOL1 G1/G2 variants contribute to the development of kidney disease in individuals of African ancestry, including those with SCA.
Sara R. Rashkin, Guolian Kang, Clifford M. Takemoto, Mitchell J. Weiss, Kenneth I. Ataga, Santosh L. Saraf, Jeffrey Lebensburger, Rima S. Zahr   +7 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