排序方式: 共有127条查询结果,搜索用时 15 毫秒
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Sloan JL Johnston JJ Manoli I Chandler RJ Krause C Carrillo-Carrasco N Chandrasekaran SD Sysol JR O'Brien K Hauser NS Sapp JC Dorward HM Huizing M;NIH Intramural Sequencing Center Group Barshop BA Berry SA James PM Champaigne NL de Lonlay P Valayannopoulos V Geschwind MD Gavrilov DK Nyhan WL Biesecker LG Venditti CP 《Nature genetics》2011,43(9):883-886
We used exome sequencing to identify the genetic basis of combined malonic and methylmalonic aciduria (CMAMMA). We sequenced the exome of an individual with CMAMMA and followed up with sequencing of eight additional affected individuals (cases). This included one individual who was identified and diagnosed by searching an exome database. We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA. We also examined a canine model of CMAMMA, which showed pathogenic mutations in a predicted ACSF3 ortholog. ACSF3 mutant alleles occur with a minor allele frequency of 0.0058 in ~1,000 control individuals, predicting a CMAMMA population incidence of ~1:30,000. ACSF3 deficiency is the first human disorder identified as caused by mutations in a gene encoding a member of the acyl-CoA synthetase family, a diverse group of evolutionarily conserved proteins, and may emerge as one of the more common human metabolic disorders. 相似文献
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Sun LD Xiao FL Li Y Zhou WM Tang HY Tang XF Zhang H Schaarschmidt H Zuo XB Foelster-Holst R He SM Shi M Liu Q Lv YM Chen XL Zhu KJ Guo YF Hu DY Li M Li M Zhang YH Zhang X Tang JP Guo BR Wang H Liu Y Zou XY Zhou FS Liu XY Chen G Ma L Zhang SM Jiang AP Zheng XD Gao XH Li P Tu CX Yin XY Han XP Ren YQ Song SP Lu ZY Zhang XL Cui Y Chang J Gao M Luo XY Wang PG Dai X Su W Li H Shen CP Liu SX Feng XB Yang CJ Lin GS Wang ZX Huang JQ Fan X Wang Y Bao YX Yang S Liu JJ Franke A Weidinger S Yao ZR Zhang XJ 《Nature genetics》2011,43(7):690-694
Atopic dermatitis is a chronic, relapsing form of inflammatory skin disorder that is affected by genetic and environmental factors. We performed a genome-wide association study of atopic dermatitis in a Chinese Han population using 1,012 affected individuals (cases) and 1,362 controls followed by a replication study in an additional 3,624 cases and 12,197 controls of Chinese Han ethnicity, as well as 1,806 cases and 3,256 controls from Germany. We identified previously undescribed susceptibility loci at 5q22.1 (TMEM232 and SLC25A46, rs7701890, P(combined) = 3.15 × 10(-9), odds ratio (OR) = 1.24) and 20q13.33 (TNFRSF6B and ZGPAT, rs6010620, P(combined) = 3.0 × 10(-8), OR = 1.17) and replicated another previously reported locus at 1q21.3 (FLG, rs3126085, P(combined) = 5.90 × 10(-12), OR = 0.82) in the Chinese sample. The 20q13.33 locus also showed evidence for association in the German sample (rs6010620, P = 2.87 × 10(-5), OR = 1.25). Our study identifies new genetic susceptibility factors and suggests previously unidentified biological pathways in atopic dermatitis. 相似文献
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Widschwendter M Fiegl H Egle D Mueller-Holzner E Spizzo G Marth C Weisenberger DJ Campan M Young J Jacobs I Laird PW 《Nature genetics》2007,39(2):157-158
Embryonic stem cells rely on Polycomb group proteins to reversibly repress genes required for differentiation. We report that stem cell Polycomb group targets are up to 12-fold more likely to have cancer-specific promoter DNA hypermethylation than non-targets, supporting a stem cell origin of cancer in which reversible gene repression is replaced by permanent silencing, locking the cell into a perpetual state of self-renewal and thereby predisposing to subsequent malignant transformation. 相似文献
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