Literature DB >> 11846744

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.

A V Polyakov, I A Shagina, O V Khlebnikova, O V Evgrafov.   

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Year:  2001        PMID： 11846744     DOI： 10.1034/j.1399-0004.2001.600614.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  36 in total

1.  Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.

Authors:  Guohua Yang; Shan Zhong; Xianrong Zhang; Biwen Peng; Jun Li; Tie Ke; Hua Xu
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2010-12-22

2.  A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.

Authors:  A Arora; P J Minogue; X Liu; M A Reddy; J R Ainsworth; S S Bhattacharya; A R Webster; D M Hunt; L Ebihara; A T Moore; E C Beyer; V M Berthoud
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

3.  Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.

Authors:  Z W Ma; Z Ma; J Q Zheng; J Zheng; F Yang; J Li; J Ji; X R Li; X Li; X Tang; X Y Yuan; X Yuan; X M Zhang; X Zhang; H M Sun; H Sun
Journal:  Br J Ophthalmol       Date:  2005-11       Impact factor: 4.638

Review 4.  Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

Authors:  J X Jiang
Journal:  Curr Mol Med       Date:  2010-12       Impact factor: 2.222

Review 5.  Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.

Authors:  Olga Messina-Baas; Sergio A Cuevas-Covarrubias
Journal:  Mol Syndromol       Date:  2017-02-07

Review 6.  Lens gap junctions in growth, differentiation, and homeostasis.

Authors:  Richard T Mathias; Thomas W White; Xiaohua Gong
Journal:  Physiol Rev       Date:  2010-01       Impact factor: 37.312

Review 7.  Homeostasis in the vertebrate lens: mechanisms of solute exchange.

Authors:  Ralf Dahm; Jan van Marle; Roy A Quinlan; Alan R Prescott; Gijs F J M Vrensen
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2011-04-27       Impact factor: 6.237

Review 8.  Gap junctions in inherited human disease.

Authors:  Georg Zoidl; Rolf Dermietzel
Journal:  Pflugers Arch       Date:  2010-02-07       Impact factor: 3.657

9.  A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Authors:  Yanhua Qi; Hongyan Jia; Shangzhi Huang; Hui Lin; Jingzhi Gu; Hong Su; Tieying Zhang; Ya Gao; Lijun Qu; Dandan Li; Ying Li
Journal:  Hum Genet       Date:  2003-11-04       Impact factor: 4.132

10.  A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

Authors:  Kaijie Wang; Binbin Wang; Jing Wang; Shiyi Zhou; Bo Yun; Peisu Suo; Jie Cheng; Xu Ma; Siquan Zhu
Journal:  Mol Vis       Date:  2009-12-16       Impact factor: 2.367
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