13400 results for ""60+mice"+"6+weeks"+diet+study+2014+2017+DOI"

in 19.23 milliseconds.

• Expression signatures of NGLY1 deficiency

  Study EGAS00001005573

• Mitochondrial DNA sequencing

  Study EGAS00001005540

• Patient-derived organoids_Vumc

  Study EGAS00001005947

• Genomic History of Siberia

  Study EGAS00001006089

• WGS of PMBCL

  Study EGAS00001006452

• HLF COPD DNA Methylomics

  Study EGAS00001006603

• GLASS-NL DNA-Methylation

  Study EGAS00001007546

• Exome_sequencing_of_Non_syndromic_Congenital_Heart_Defects

  tbc

  Study EGAS00001001734

• Histone modifications of cfDNA

  Study EGAS00001006503

• Whole Exome Sequencing in Alopecia Areata Identifies Rare Mutations in KRT82

  Alopecia areata (AA) is an autoimmune disorder, in which the body's own immune cells attack hair follicels resulting in hair loss. It is a complex genetic disease with 14 associated loci previously identified in our genome-wide association study (GWAS). In the study, we performed the whole-exome sequencing (WES) on 849 AA patients with the aim to identify the novel rare variants in genes contributing to AA susceptibility. We performed gene-collapsing analyses and identified keratin 82 (KRT82 Gene ID: 3888) as the highest associated AA gene in the three rare damaging collapsing models with p<6.7E-07 in one of the models. The KRT82 gene is a hair-specific type II keratin expressed in the hair shaft cuticle during the anagen phase of the hair cycle. We reported the lower expression of KRT82 in AA hair follicles, compared to controls, and the KRT82 expression is absent from the bulb region, the site of AA immune attack. This study emphasizes the significance of using WES and gene collapsing analyses to identify rare variation in a functionally relevant risk gene using a moderate sample size.  

  Study phs002632