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遗传性皮肤松弛症的研究进展 被引量：2

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摘要 遗传性皮肤松弛症是一种可累及全身多个富含弹性纤维组织器官的遗传性疾病。其临床表现为进行性皮肤松弛。该病有三种临床类型:常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传,致病基因分别为弹性蛋白基因,Fibulin5(FBLN5)基因,Fibulin4(FBLN4)基因和ATP7A基因。该病目前无有效的治疗方法,显性遗传型主要影响美容,预后较好,隐性遗传型预后较差。
作者 路顺(综述) 王培光(审校) 刘建军 (审校) 张学军(审校)
机构地区 安徽医科大学皮肤病研究所
出处 《中国麻风皮肤病杂志》 2009年第3期197-199,共3页 China Journal of Leprosy and Skin Diseases
关键词 皮肤松弛症 弹性蛋白基因 Fibulin5基因 Fibulin4基因 ATPTA基因
分类号 R758.56 [医药卫生—皮肤病学与性病学] R596 [医药卫生—内科学]
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参考文献18

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同被引文献33

  • 1苗青.先天性皮肤松弛症1例[J].临床皮肤科杂志,2004,33(12):758-758. 被引量：1
  • 2LSUSQUY R,COSTA P,DELMAS V,et al.Update on the epidemiology of genital prolapse[J].Prog Urol,2009,19(13):907-915.
  • 3LEE U J,GUSTILO-ASHBY A M,DANESHGARI F,et al.Lower urogenital tract anatomical and functional phenotype in lysyl oxidase like-1 knockout mice resembles female pelvic floor dysfunction in humans[J].Am J Physiol Renal Physiol,2008,295(2):F545-555.
  • 4RAHN D D,ACEVEDO J F,ROSHANRAVAN S,et al.Failure of pelvic organ support in mice deficient in fibulin-3[J].Am J Pathol,2009,174(1):206 -215.
  • 5DREWES P G,YANAGISAWA H,STARCHER B,et al.Pelvic organ prolapse in fibulin-5 knockout mice:pregnancy-induced changes in elastic fiber homeostasis in mouse vagina[J].Am J Pathol,2007,170(2):578-589.
  • 6YANAGISAWA H,SCHLUTERMAN M K,BREKKEN R A.Fibulin-5,an integrin-binding matricellular protein:its function in development and disease[J].J Cell Commun Signal,2009,3(3-4):337-347.
  • 7LEMAIER R,BAYLE J,MEEHAM R P,et al.Micorfibril-associated MAGP-2 Stimulates elastic fiber assembly[J].J Biol Chem,2007,282(1):800-808.
  • 8CAIN S A,MCGOVERN A,SMALL E,et al.Defining elastic fiber interactions by molecular fishing:an affinity purification and mass spectrometry approach[J].Mol Cell Proteomics,2009,8(12):2715-2732.
  • 9ARGRAVES W S,GREENE L M,COOLEY M A,et al.Fibulins:physiological and disease perspectives[J].BMBO Rep,2003,4(12):1127-1131.
  • 10LIU X,ZHAO Y,GAO J,et al.Elastic fiber homeostasis requires lysyl oxidase-like l protein[J].Nat Genet,2004,36(2):178-182.

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中国麻风皮肤病杂志
2009年 第3期

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