Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.
作者信息
Jin Ying, Ferrara Tracey, Gowan Katherine, Holcomb Cherie, Rastrou Melinda, Erlich Henry A, Fain Pamela R, Spritz Richard A
出版信息
J Invest Dermatol. 2012 Jun;132(6):1730-3. doi: 10.1038/jid.2012.37. Epub 2012 Mar 8.
Abstract
摘要
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Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.新一代DNA重测序技术鉴定出TYR和HLA - A的常见变异体，这些变异体通过抗原呈递调节泛发性白癜风的风险。
J Invest Dermatol. 2012 Jun;132(6):1730-3. doi: 10.1038/jid.2012.37. Epub 2012 Mar 8.
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本文引用的文献
1
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.候选基因在泛发性白癜风中的综合关联分析支持 XBP1、FOXP3 和 TSLP。
J Invest Dermatol. 2011 Feb;131(2):371-81. doi: 10.1038/jid.2010.337. Epub 2010 Nov 18.
2
The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma.广义白癜风的遗传学：自身免疫途径与恶性黑色素瘤呈负相关。
Genome Med. 2010 Oct 19;2(10):78. doi: 10.1186/gm199.
3
Common variants in FOXP1 are associated with generalized vitiligo.FOXP1 常见变异与泛发性白癜风有关。
Nat Genet. 2010 Jul;42(7):576-8. doi: 10.1038/ng.602. Epub 2010 Jun 6.
4
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.全基因组关联研究发现 6q27 和 MHC 是白癜风的易感位点。
Nat Genet. 2010 Jul;42(7):614-8. doi: 10.1038/ng.603. Epub 2010 Jun 6.
5
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.TYR 基因变异与泛发性白癜风自身免疫易感性相关位点研究。
N Engl J Med. 2010 May 6;362(18):1686-97. doi: 10.1056/NEJMoa0908547. Epub 2010 Apr 21.
6
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.1型眼皮肤白化病（OCA1）的分子基础：突变型酪氨酸酶的分选失败和降解导致色素缺乏。
Biochem J. 2001 Apr 15;355(Pt 2):259-69. doi: 10.1042/0264-6021:3550259.
7
An HLA-A2-restricted tyrosinase antigen on melanoma cells results from posttranslational modification and suggests a novel pathway for processing of membrane proteins.黑色素瘤细胞上一种受HLA - A2限制的酪氨酸酶抗原是翻译后修饰的结果，这提示了一种新的膜蛋白加工途径。
J Exp Med. 1996 Feb 1;183(2):527-34. doi: 10.1084/jem.183.2.527.
8
The tyrosinase gene codes for an antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas.酪氨酸酶基因编码一种抗原，该抗原可被HLA - A2黑色素瘤上的自体细胞溶解性T淋巴细胞识别。
J Exp Med. 1993 Aug 1;178(2):489-95. doi: 10.1084/jem.178.2.489.
9
The role of tyrosinase in autoimmune vitiligo.酪氨酸酶在自身免疫性白癜风中的作用。
Lancet. 1994 Oct 15;344(8929):1049-52. doi: 10.1016/s0140-6736(94)91709-4.
10
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.IA型眼皮肤白化病患者酪氨酸酶基因突变的检测
N Engl J Med. 1990 Jun 14;322(24):1724-8. doi: 10.1056/NEJM199006143222407.
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