期刊文献+

表皮分化复合物和皮肤病 被引量:1

Epidermal Differentiation Complex and Skin Diseases
暂未订购
导出
摘要 表皮分化复合物基因是一呈簇状分布于染色体1q21上的基因家族,它与表皮的终末分化密切相关。这些蛋白表达在角质形成细胞的各层。它们的基因突变,mRNA表达量的改变,或是蛋白结构功能的变化,和多种角化异常的皮肤病及皮肤肿瘤有关。无论是基因水平的突变还是mRNA水平的变化,或是蛋白结构功能的改变都从一定程度上解释了疾病的发病机制。 The epidermal differentiation complex ( EDC ) encoded genes are a gene cluster located on human chromosome lq21. The EDC plays an important role in terminal differentiation of the human epidermis and is expressed in each layer of the epidermis. The gene mutation, variation of mRNA level and change of structure as well as function of EDC, are all associated with many cutaneous disorders of keratinization and skin tumors, which may explain the pathogenesis of these diseases to some extent.
作者 陈小英 郑捷
出处 《国际皮肤性病学杂志》 2006年第3期185-187,共3页 International Journal of Dermatology and Venereology
关键词 表皮分化复合物 皮肤疾病 Epidermal differentiation complex Skin disease
  • 相关文献

参考文献22

  • 1Eckert RL,Broome AM,Ruse M,et al.S100 proteins in the epidermis.J Invest Dermatol,2004,123:23-33.
  • 2Marshall D,Hardman MJ,Nield KM,et al.Differentially expressed late constituents of the epidermal cornified envelope.Proc Natl Acad Sci U S A,2001,98:13031-13036.
  • 3Marenholz I,Zirra M,Fischer DF,et al.Identification of human epidermal differentiation complex (EDC)-encoded genes by subtractive hybridization of entire YACs to a gridded keratinocyte cDNA library.Genome Res,.2001,11:341-355.
  • 4Huber M,Siegenthaler G,Mirancea N,et al.Isolation and characterization of human repetin,a member of the fused gene family of the epidermal differentiation complex.J Invest Dermatol,2005,124:998-1007.
  • 5Contzler R,Favre B,Huber M,et al.Cornulin,a new member of the "fused gene" family,is expressed during epidermal differentiation.J Invest Dermatol,2005,124:990-997.
  • 6Wolf R,Mirmohammadsadegh A,Walz M,et al.Molecular cloning and characterization of alternatively spliced mRNA isoforms from psoriatic skin encoding a novel member of the S100 family.FASEB J,2003,17:1969-1971.
  • 7Ishida-Yamamoto A.Loricrin keratoderma:a novel disease entity characterized by nuclear accumulation of mutant loricrin.J Dermatol Sci,2003,31:3-8.
  • 8Takahashi H,Ishida-Yamamoto A,Kishi A,et al.Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome.J Dermatol Sci,1999,19:44-47.
  • 9O'Driscoll J,Muston GC,McGrath JA,et al.A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.Clin Exp Dermatol,2002,27:243-246.
  • 10Matsumoto K,Muto M,Seki S,et al.Loricrin keratoderma:a cause of congenital ichthyosiform erythroderma and collodion baby.Br J Dermatol,2001,145:657-660.

同被引文献12

  • 1徐薇,赵俊英,赵绘,顾菲,黄笑鸣.毛囊闭锁性三联征一例及家系分析[J].中华皮肤科杂志,2005,38(3):157-159. 被引量:11
  • 2王培光,林达,王红艳,李卉,高敏,周文明,刘盛秀,杨森,张学军.毛囊闭锁三联症一家系调查[J].临床皮肤科杂志,2006,35(1):42-43. 被引量:6
  • 3张学军.复杂疾病的遗传学研究策略[J].安徽医科大学学报,2007,42(3):237-240. 被引量:31
  • 4Meixner D,Schneider S,Krauso M,et al.Acne inversa[J].J Dtsch Dermatol Ges,2008,6(3):189-96.
  • 5Gao M,Wang P G,Cui Y,et al.Inversa acne (hidradenitis suppurativa):a case report and identification of the locus at chromosome 1p21.1~1q25.3[J].J Invest Dermatol,2006,126 (6):1302 -6.
  • 6Sellheyer K,Krahl D." Hidradenitis suppurativa" is acne inversa!An appeal to (finally) abandon a misnomer[J].Int J Dermatol,2005,44 (7):535-40.
  • 7Jansen T,Altmeyer P,Plewig G.Acne inversa (alias hidradenitis suppurativa)[J].J Eur Acad Dermatol Venereal,2001,15(6):532 -40.
  • 8Fitzsimmons J S,Fitzsimmons E M,Gilbert G.Familial hidradenitis suppurativa:evidence in favour of single gene transmission[J].J Med Genet,1984,21 (4):281 -5.
  • 9Van Der Werth J M,Williams H C,Raeburn J A.The clinical genetics of hidradenitis suppurativa revisited[J].Br J Dermatol,2000,142(5):947-53.
  • 10McLean W H I,Wood P,Irvine A D,et al.Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa[J].Experimental Dermatology,2006,15 (6):478-82.

引证文献1

二级引证文献7

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