Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II-Reference-Cited by-同舟云学术

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II

Published:2011-10-01 Issue:3 Volume:131 Page:491-503
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Zhang Hua,Chen Hongsheng,Luo Hunjin,An Jing,Sun Lin,Mei Lingyun,He Chufeng,Jiang Lu,Jiang Wen,Xia Kun,Li Jia-Da,Feng Yong

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-011-1098-2.pdf

Reference36 articles.

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2. Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M (2000) Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 9(13):1907–1917

3. Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V (2007) Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet 81(6):1169–1185. doi: 10.1086/522090

4. Cao Y, Wang C (2000) The COOH-terminal transactivation domain plays a key role in regulating the in vitro and in vivo function of Pax3 homeodomain. J Biol Chem 275(13):9854–9862

5. Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y (2010) Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun 397(1):70–74. doi: 10.1016/j.bbrc.2010.05.066

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