Literature DB >> 15286166

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

K P Burdon1, M G Wirth, D A Mackey, I M Russell-Eggitt, J E Craig, J E Elder, J L Dickinson, M M Sale.   

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Year:  2004        PMID： 15286166      PMCID： PMC1735867          DOI： 10.1136/jmg.2004.018333

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  33 in total

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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
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Review 3.  Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

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Review 4.  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 5.  Lens gap junctions in growth, differentiation, and homeostasis.

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Review 6.  Gap junctions in inherited human disease.

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7.  A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

Authors:  Kamlesh Guleria; Vanita Vanita; Daljit Singh; Jai Rup Singh
Journal:  Mol Vis       Date:  2007-06-04       Impact factor: 2.367

8.  A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

Authors:  Wei Wang; Jin Jiang; Yanan Zhu; Jinyu Li; Chongfei Jin; Xingchao Shentu; Ke Yao
Journal:  Mol Vis       Date:  2010-03-25       Impact factor: 2.367

9.  A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.

Authors:  Guishun Liu; Yunbo Li; Yanfei Ruan; Wenping Cao; Li Xin; Jiangyuan Qian; Jingzhi Gu
Journal:  Mol Vis       Date:  2010-05-19       Impact factor: 2.367

10.  Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3).

Authors:  Zhou Zhou; Shanshan Hu; Binbin Wang; Nan Zhou; Shiyi Zhou; Xu Ma; Yanhua Qi
Journal:  Mol Vis       Date:  2010-04-21       Impact factor: 2.367
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