Literature DB >> 18717672

A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.

H N Baris1, A Zlotogorski, G Peretz-Amit, V Doviner, M Shohat, H Reznik-Wolf, E Pras.   

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Year:  2008        PMID： 18717672     DOI： 10.1111/j.1365-2133.2008.08796.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  5 in total

1.  Clouston syndrome: first case in Russia.

Authors:  Av Marakhonov; Myu Skoblov; Va Galkina; Ra Zinchenko
Journal:  Balkan J Med Genet       Date:  2012-06       Impact factor: 0.519

2.  GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

Authors:  Xiaofeng Shi; Dongya Li; Min Chen; Yichen Liu; Qi Yan; Xianqiu Yu; Yan Zhu; Yumei Li
Journal:  Int J Dermatol       Date:  2019-01-08       Impact factor: 2.736

3.  Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain.

Authors:  Nicole M Novielli-Kuntz; Eric R Press; Kevin Barr; Marco A M Prado; Dale W Laird
Journal:  Dis Model Mech       Date:  2021-01-26       Impact factor: 5.758

4.  Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.

Authors:  Yuting Lu; Ruili Zhang; Zhenying Wang; Shuhua Zhou; Yali Song; Lamei Chen; Nan Chen; Wenmin Liu; Canan Ji; Wangli Wu; Li Zhang
Journal:  Braz J Med Biol Res       Date:  2018-07-23       Impact factor: 2.590

5.  A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.

Authors:  Yi Zhan; Shuaihantian Luo; Zixin Pi; Guiying Zhang
Journal:  Hereditas       Date:  2020-08-25       Impact factor: 3.271
  5 in total

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