Literature DB >> 14627691

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

C E Willoughby1, Sara Arab, R Gandhi, S Zeinali, Seddigheh Arab, D Luk, G Billingsley, F L Munier, E Héon.   

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Year:  2003        PMID： 14627691      PMCID： PMC1735309          DOI： 10.1136/jmg.40.11.e124

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


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  32 in total

1.  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

2.  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 3.  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 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.

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

Review 6.  Gap junctions in inherited human disease.

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

7.  Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.

Authors:  Surya Prakash G Ponnam; Kekunnaya Ramesha; Sushma Tejwani; Balasubramanya Ramamurthy; Chitra Kannabiran
Journal:  BMJ Case Rep       Date:  2009-06-30

8.  An intact connexin N-terminus is required for function but not gap junction formation.

Authors:  John W Kyle; Peter J Minogue; Bettina C Thomas; Denise A Lopez Domowicz; Viviana M Berthoud; Dorothy A Hanck; Eric C Beyer
Journal:  J Cell Sci       Date:  2008-07-29       Impact factor: 5.285

9.  A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.

Authors:  A Arora; P J Minogue; X Liu; P K Addison; I Russel-Eggitt; A R Webster; D M Hunt; L Ebihara; E C Beyer; V M Berthoud; A T Moore
Journal:  J Med Genet       Date:  2007-11-15       Impact factor: 6.318

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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