Literature DB >> 20536673

G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.

Nan Chen, Chao Xu, Bing Han, Zhen-Ying Wang, Ya-Li Song, Song Li, Rui-Li Zhang, Chun-Ming Pan, Li Zhang.   

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Year:  2010        PMID： 20536673     DOI： 10.1111/j.1346-8138.2009.00768.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  6 in total

1.  A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Authors:  Yuanyuan Kuang; Veronica Zorzi; Damiano Buratto; Gaia Ziraldo; Flavia Mazzarda; Chiara Peres; Chiara Nardin; Anna Maria Salvatore; Francesco Chiani; Ferdinando Scavizzi; Marcello Raspa; Min Qiang; Youjun Chu; Xiaojie Shi; Yu Li; Lili Liu; Yaru Shi; Francesco Zonta; Guang Yang; Richard A Lerner; Fabio Mammano
Journal:  EBioMedicine       Date:  2020-06-15       Impact factor: 8.143

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.  A novel voltage-clamp/dye uptake assay reveals saturable transport of molecules through CALHM1 and connexin channels.

Authors:  Pablo S Gaete; Mauricio A Lillo; William López; Yu Liu; Wenjuan Jiang; Yun Luo; Andrew L Harris; Jorge E Contreras
Journal:  J Gen Physiol       Date:  2020-11-02       Impact factor: 4.086

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

Review 6.  The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

Authors:  Rasheed A Bailey; Derek L Beahm; I Martha Skerrett
Journal:  Int J Mol Sci       Date:  2021-03-05       Impact factor: 5.923
  6 in total

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