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

宁夏首例少汗型外胚叶发育不全

下载PDF
导出
摘要 本文对宁夏首例少汗型外胚叶发育不全核心家系进行报道,为建立对该病的诊断与遗传咨询提供了相关临床依据。
作者 朱琳虹 赵丽萍 董文亮
机构地区 宁夏医科大学总医院口腔科
出处 《宁夏医科大学学报》 2014年第1期72-74,F0003,共4页 Journal of Ningxia Medical University
基金 2013年宁夏卫生厅科研计划项目
关键词 少汗型外胚叶发育不全 宁夏首例
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献11

  • 1Itin PH, Fistarol SK. Ectodermal dysplasias [ J ]. Am J Med Genet,20(M,131 (1) :45 -51.
  • 2尹伟,邓双,叶晓茜,边专.遗传异质性是无汗型外胚叶发育不全的重要特点[J].口腔医学研究,2008,24(3):290-293. 被引量：9
  • 3Gaide O, Schneider P. Permanent correction of an in- herited ectodermal dysplasia with recombinant EDA [J], Nat Med,2003,9(5) :614 -618.
  • 4Kere J, Srivastava AK, Montonen O, et al. X - linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein [ J]. Nature Genet, 1996,13:409 - 416.
  • 5Bayes M, Hartung AJ, Ezer S, et al. The anhidrotic ec- todermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin - A with deletion mutations in collagenous repeats[ J]. Hum Molec Gen- et, 1998,7 : 1661 - 1669.
  • 6Vincent MC, Biancalana V,Ginisty D, et al. Mutational spectrum of the ED1 gene in X - linked hypohidrotic ectodermal dysplasia [ J ]. Europ J Hum Genet, 2001, 9:355 - 363.
  • 7Kobielak K, Kobielak A, Roszkiewicz J, et al. Mutationsin the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X -linked anhidrotic ectoderm- al dysplasia [ J ]. Am J Med Genet, 2001, 100: 191 - 197.
  • 8张安平,张学军,朱文元.X连锁无汗性外胚叶发育不良家系的基因突变检测[J].中华皮肤科杂志,2002,35(5):380-382. 被引量：17
  • 9黄玉辉,赖文莉,王璟.无汗型外胚叶发育不全1例[J].国际口腔医学杂志,2011,38(6):659-661. 被引量：3
  • 10雷科,车团结,王锦明,邓旎,张琳,何祥一.少汗型外胚层发育不良症eda-A1基因突变分析及其真核表达载体的构建[J].华西口腔医学杂志,2009,27(6):610-613. 被引量：6

二级参考文献59

  • 1张景霞,郝杰兵,金辉喜,边专,叶晓茜.先天缺指(趾)-外胚叶发育不良-唇/腭裂综合征的病例研究[J].口腔医学研究,2007,23(1):73-75. 被引量：5
  • 2Itin PH, Fistarol SK. Ectodermal dysplasias[J]. Am J Med Genet C Semin Med Genet, 2004, 131C(1):45-51.
  • 3Pummila M, Fliniaux I, Jaatinen R, et al. Ectodysplasin has a dual role in ectodermal organogenesis: Inhibition of bmp activity and induction of Shh expression[J]. Development, 2007, 134 (1): 117-125.
  • 4Anoop TM, Simi S, Mini PN, et al. Hypohidrotic ectodermal dysplasia[J]. J Assoc Physicians India, 2008, 56:268-270.
  • 5Harris MP, Rohner N, Schwarz H, et al. Zebrafish eda and eclar mutants reveal conserved and ancestral roles of eetodysplasin signaling in vertebrates[J]. PLoS Genet, 2008, 4(10):e1000206.
  • 6Come C, Gambardella S, Bulli C, et al. Screening of EDA1 gene in X-linked anhidretic ectodermal dysplasia using DHPLC: Identification of 14 novel mutations in Italian patients[J]. Genet Test, 2008, 12(3) :437-442.
  • 7Φrstavik KH, Knudsen GP, Nordgarden H, et al. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9; X insertion that includes XIST and disrupts the EDA gene[J]. Am J Med Genet A, 2007, 143A(13): 1510-1513.
  • 8Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia[J]. Br J Dermatol, 2005, 153(1):46-50.
  • 9Rasool M, Schuster J, Aslam M, et al. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia[J]. J Hum Genet, 2008, 53(10):894-898.
  • 10Li S, Li J, Cheng J, et al. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A) [J]. PLoS One, 2008, 3 (6) : e2396.

共引文献27

宁夏医科大学学报
2014年 第1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