先天性厚甲症遗传学研究进展
被引量:5
Genetic Advances of Pachyonychia Congenita
摘要
先天性厚甲症是一种罕见的遗传性外胚叶缺陷性疾病。临床上分为两种类型,主要表现为指(趾)甲的过度角化增厚及其他外胚叶缺陷,均与角蛋白异常有关。本文就先天性厚甲症的临床分型、致病基因的结构和功能、动物模型的构建及基因治疗等方面进行综述。
出处
《中国皮肤性病学杂志》
CAS
北大核心
2008年第3期179-181,共3页
The Chinese Journal of Dermatovenereology
二级参考文献9
-
1McLean WHI, Rugg EL, Lunny DP, et al. Keratin-16 and keratin-17 mutations cause pachyonychia-congenita. Nat Genet, 1995,9:273-278.
-
2Bowden PE, Haley JL, Kansky A, et al. Mutation of a type Ⅱkeratin gene (k6a) in pachyonychia congenita. Nat Genet, 1995,10:363-365.
-
3Lin MT, Levy ML, Bowden PE, et al. Identification of sporadic mutation of a in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutation hot spot. Exp Dermatol, 1999,8:115-119.
-
4Smith FJD, Mukenna KE, Irvine AD, et al. A mutation detection strategy for the human K6A gene and novel mutations in two cases of pachyonychia congenita type 1. Exp Dermatol, 1999,8:109-114.
-
5Quinlan RA, Schiller DL, Hatzfeld M, et al. Patterns of expression and organization of cytokeratin intermediate filaments. Ann N Y Acad Sci, 1985,455:282-306.
-
6Terrinoni A, Smith FJD, Didona B, et al. Novel and recurrent mutations in the genes encoding keratins K6a, KI6 and K17 in 13cases of pachyonychia congenita. J Invest Dermatol, 2001,117:1391-1396.
-
7Takahashi K, Paladini RD, Coulombe PA. Cloning and characterization of multiple human genes and cDNAs encoding highly related type Ⅱ keratin 6 isoforms. J Biol Chem, 1995,270:18581-18592.
-
8Smith FJD, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet, 1998,7:1143-1148.
-
9王大忠.基因突变[A].见:左伋 张克雄 编.医学遗传学 第2版[C].上海:上海医科大学出版社,2000.52-60.
共引文献4
-
1康晓静,李凡,吐比叶·热依木,吴卫东,张德志,普雄明.先天性厚甲症两家系六例[J].中华医学遗传学杂志,2007,24(6):732-733. 被引量:1
-
2刘建勇,普雄明,康晓静.先天性厚甲症研究进展[J].国际皮肤性病学杂志,2009,35(2):107-109.
-
3管志伟,史伟杰,廉佳.KRT17基因c.263新生突变导致Ⅱ型先天性厚甲症[J].临床皮肤科杂志,2021,50(9):552-554. 被引量:1
-
4卫艳萍,李关芳,王廷廷,张宁宁,谢彤阳.Ⅱ型先天性厚甲症基因变异研究及文献回顾[J].河南医学高等专科学校学报,2022,34(3):291-295.
同被引文献47
-
1陈思远,黄长征,朱秀丽,钱悦,李家文,王椿森.脂溢性角化病皮损中增殖细胞核抗原、角蛋白16、17和人乳头瘤病毒表达的研究[J].中华皮肤科杂志,2005,38(2):121-122. 被引量:1
-
2冯义国,肖生祥,李利,王俊民,谭升顺,史耀舟.迟发型先天性厚甲家系角蛋白17基因新突变位点的检测[J].中华医学杂志,2003,83(21):1860-1862. 被引量:2
-
3庞晓文,赵广,江丽,张磊,胡岩云.尖锐湿疣患者表皮角蛋白及其相关蛋白表达模式的研究[J].临床皮肤科杂志,2006,35(6):354-356. 被引量:4
-
4李风舟,殷操.白色海绵状斑痣(附2例报告)[J].临床口腔医学杂志,2006,22(6):376-377. 被引量:2
-
5Hoting E,Wassilew SW.Systemic retinoid therapy with etretinate in pachy-onychia congenita[J].Hautarzt,1985,36(9):526-528.
-
6Kon A,Ito N,Kudo Y,et al.L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma[J].Br J Dermatol,2006;155(3):624-626.
-
7Zlotogorski A,Marek D,Horev,et al.An autosomal recessive form of monilethrix is caused bymutations in DSG4:clinical overlap with localized autosomal recessive hypotrichosis[J].J Invest Dermatol,2006; 126(6):1292-1296.
-
8Schweizer J.More than one gene involved in monilethrix:intracellular but also extracellular players[J].J Invest Dermatol,2006; 126(6):1216-1219.
-
9Calder KB,Coplowitz S,Schlauder S,et al.A case aeries and Mmunophenotypic analysis of CK2O-/CK7+ Primary neuroendocrine careinoma ofthe skin.J Cutan Pathol,2007;34(12):918-923.
-
10Matsumoto M,Ishiguro M,Ikeno F,et al.Combined Bowen disease and extramammary Pagetdisease.J Cutan Pathol,2007;34(SuPP11):47 -51.
引证文献5
-
1张江安,于建斌.Ⅰ型先天性厚甲症1例[J].中国皮肤性病学杂志,2010,24(4):361-362. 被引量:1
-
2闫华,艾东方,杨秀芳,马敬,王雪燕.角蛋白与皮肤病[J].中国医药导刊,2010,12(8):1300-1301.
-
3燕丽,张霞,马琳.Ⅰ型先天性厚甲症1例[J].中国麻风皮肤病杂志,2012,28(11):812-814. 被引量:1
-
4王强,王凯波,赵桂兰,李铁男.Ⅱ型先天性厚甲症1例[J].中国皮肤性病学杂志,2013,27(11):1191-1191. 被引量:1
-
5余平文,曹丽华.先天性厚甲基因突变分析[J].山西医药杂志,2014,43(13):1515-1517.
二级引证文献3
-
1王强,王凯波,赵桂兰,李铁男.Ⅱ型先天性厚甲症1例[J].中国皮肤性病学杂志,2013,27(11):1191-1191. 被引量:1
-
2徐小容,熊琦,曹碧兰.I型先天性厚甲症一例[J].中国麻风皮肤病杂志,2018,34(4):238-238.
-
3刘忠艳,王启华,周桂芝.Ⅰ型先天性厚甲症一例[J].中国麻风皮肤病杂志,2021,37(5):315-316.
-
1康晓静,石继海,夏隆庆.先天性厚甲症[J].国外医学(皮肤性病学分册),2002,28(6):349-353. 被引量:2
-
2何文凤,张云璧,王蓬文,任映,张乙,陈怡瑾,杨涵雯,李瑷同.二硝基氯苯致大鼠变应性接触性皮炎模型的构建[J].中国麻风皮肤病杂志,2015,31(3):145-148. 被引量:6
-
3康晓静,辛燕,石继海,鞠强,夏隆庆.先天性厚甲症2家系8例报道[J].中国麻风皮肤病杂志,2003,19(5):480-482. 被引量:2
-
4陈霞琳.艾滋病眼部并发症7例临床分析[J].中国临床研究,2013,26(2):164-164.
-
5张蕾,王莉,热合曼.古丽苏玛依.新生儿色素失禁症1例[J].新疆医科大学学报,2005,28(6):518-518.
-
6李景卫,尹兴平,夏隆庆.弥漫性掌跖角化病[J].国外医学(皮肤性病学分册),2005,31(2):87-89. 被引量:5
-
7先天性皮肤病[J].国外科技资料目录(医药卫生),2000(10):181-181.
-
8Rouse C.,Siegfried E.,BreerW.,Nahass G.,罗素菊,冯义国.少汗性外胚叶发育不良家族中毛发和汗腺的进一步观察[J].世界核心医学期刊文摘(皮肤病学分册),2005,0(1):58-59.
-
9罗权,朱安棣,张锡宝,吴志华.少汗性外胚叶发育不良1例[J].临床皮肤科杂志,2004,33(6):369-369.
-
10王球.神经系统疾病与皮肤症征[J].中国水电医学,2005,0(4):256-256.