期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

家族性良性天疱疮分子生物学研究新进展 被引量：2

下载PDF
导出
摘要 家族性良性天疱疮,是一种常染色体显性遗传性皮肤病。由ATP2C1基因突变所致,其编码一种新型P型Ca2+ATP酶,即人类分泌途径Ca2+/Mn2+ATP酶(humansecretorypathwayCa2+/Mn2+ATPase)。人角质形成细胞SPCA1泵位于高尔基体,其将细胞浆中的Ca2+转运致高尔基体内,控制着高尔基体钙离子的浓度。
作者 颜潇潇 张福仁
机构地区 山东省皮肤病性病防治研究所
出处 《国外医学（皮肤性病学分册）》 2005年第6期370-372,共3页 Foreign Medical Sciences(Section of Dermatology and Venereology)
关键词 天疱疮 良性家族性 ATP2C1 SPCA1 分子生物学 家族性良性天疱疮 研究新进展 分子生物学 常染色体显性遗传性皮肤病 人角质形成细胞 ATP酶 高尔基体 Ca^2+ SPCA1
分类号 R758.66 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献19

  • 1Metze D, Hamm H, Schorat A, et al. Involvement of the adherens junction-actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. J Cutan Pathol, 1996, 23:211-222.
  • 2Richard G, Korge BP, Wright AR, et al. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. J Invest Dermatol,1995, 105: 357-360.
  • 3Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C 1 encoding a novel Ca (2+) pump.Hum Mol Genet, 2000, 9: 1131-1140.
  • 4Hu Z, Bonifas JM, Beech J,et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet, 2000, 24: 61-65.
  • 5Wei Y, Chen J, Rosas G, et al. Phenotypic screening of mutations in Pmr1, the yeast secretory pathway Ca2+/Mn2+-ATPase, reveals residues critical for ion selectivity and transport. J Biol Chem, 2000, 275: 23927-23932.
  • 6Ton VK, Mandal D, Vahadji C, et al. Functional expression in yeast of the human secretory pathway Ca(2+ ), Mn(2+ )-ATPase defective in Hailey-Hailey disease. J Biol Chem, 2002, 277: 6422-6427.
  • 7Behne MJ, Tu CL, Aronchik I,et al. Human keratinocyte ATP2C1 localizes to the Golgi and controls Golgi Ca2+ stores. J Invest Dermatol, 2003, 121: 688-694.
  • 8Wuytack F, Raeymaekers L, Missiaen L. PMR1/SPCA Ca2+ pumps and the role of the Golgi apparatus as a Ca2+ store. Pflugers Arch, 2003, 446: 148-153.
  • 9Callewaert G, Parys JB, De Smedt H, et al. Similar Ca(2+)-signaling properties in keratinocytes and in COS-1 cells overexpressing the secretory-pathwgy Ca(2+)-ATPase SPCA1. Cell Calcium, 2003, 34: 157-162.
  • 10Missiaen L, Raeymaekers L, Dode L, et al. SPCA1 pumps and Hai ley-Hailey disease. Biochem Biophys Res Commun, 2004, 322: 1204-1213.

同被引文献12

  • 1朱亚刚,张学军,杨森.家族性良性天疱疮的分子遗传学研究新进展[J].中国皮肤性病学杂志,2005,19(2):115-116. 被引量：11
  • 2颜潇潇,蒋德科,张福仁,田洪青,周桂芝,卢宪梅,余龙.家族性良性天疱疮基因突变研究[J].中华皮肤科杂志,2006,39(6):308-310. 被引量：8
  • 3Burge SM.Hailey-Hailey disease:the clinical features,response to treatment and prognosis[J].Br J Dennatol,1992,126(3):275-282.
  • 4Hu Z,Bonifas JM,Beech J,et al.Mutations in ATP2C1,encoding a calcium pump,cause Hailey-Hailey disease[J].Nat Genet,2000,24(1):61-65.
  • 5Sudbrak R,Brown J,Dobson-Stone C,et al.Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump[J].Hum Mol Genet,2000,9(7):1131-1134.
  • 6Burge SM.Hailey-Hailey disease:the clinical features,response to treatment and prognosis[J].Br J Dermatol,1992,126(3):275-282.
  • 7Hu Z,Bonifas JM,Beech J,et al.Mutations in ATP2C1,encoding a calcium pump,cause Hailey-Hailey disease[J].Nat Genet,2000,(1)24:61-65.
  • 8Chao SC,Tsai YM,Yang MH.Mutation analysis of ATP2C1 gene in Taiwan Residents patients with Hailey-Hailey disease[J].Br J Dermatol,2002,146(4):595-600.
  • 9Li H,Sun XK,Zhu XJ.Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease[J].Br J Dermatol,2003,149(3):471-474.
  • 10Zhang XQ,Wu HZ,Li BX,et al.Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease[J].Clin Exp Dermatol,2006,31(5):702-705.

引证文献2

二级引证文献6

国外医学（皮肤性病学分册）
2005年 第6期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部