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Literature DB >> 16234473

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

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.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Connexins

Year: 2005 PMID： 16234473 PMCID： PMC1772944 DOI： 10.1136/bjo.2005.075184

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

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15 in total

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

Authors: C E Willoughby; Sara Arab; R Gandhi; S Zeinali; Seddigheh Arab; D Luk; G Billingsley; F L Munier; E Héon
Journal: J Med Genet Date: 2003-11 Impact factor: 6.318

2. A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32.

Authors: J B Rubin; V K Verselis; M V Bennett; T A Bargiello
Journal: Proc Natl Acad Sci U S A Date: 1992-05-01 Impact factor: 11.205

3. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.

Authors: Yang Li; Jun Wang; Bing Dong; Hong Man
Journal: Mol Vis Date: 2004-09-14 Impact factor: 2.367

4. Connexin46 mutations in autosomal dominant congenital cataract.

Authors: D Mackay; A Ionides; Z Kibar; G Rouleau; V Berry; A Moore; A Shiels; S Bhattacharya
Journal: Am J Hum Genet Date: 1999-05 Impact factor: 11.025

Review 5. Infantile cataracts.

Authors: S R Lambert; A V Drack
Journal: Surv Ophthalmol Date: 1996 May-Jun Impact factor: 6.048

6. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Authors: A Shiels; D Mackay; A Ionides; V Berry; A Moore; S Bhattacharya
Journal: Am J Hum Genet Date: 1998-03 Impact factor: 11.025

7. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.

Authors: V Berry; D Mackay; S Khaliq; P J Francis; A Hameed; K Anwar; S Q Mehdi; R J Newbold; A Ionides; A Shiels; T Moore; S S Bhattacharya
Journal: Hum Genet Date: 1999 Jul-Aug Impact factor: 4.132

8. A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.

Authors: Thomas M Bennett; Donna S Mackay; Harry L S Knopf; Alan Shiels
Journal: Mol Vis Date: 2004-06-11 Impact factor: 2.367

9. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.

Authors: Haisong Jiang; Yiping Jin; Lei Bu; Weiying Zhang; Jing Liu; Bin Cui; Xiangyin Kong; Landian Hu
Journal: Mol Vis Date: 2003-10-24 Impact factor: 2.367

Review 10. Connexin disorders of the ear, skin, and lens.

Authors: Dwan A Gerido; Thomas W White
Journal: Biochim Biophys Acta Date: 2004-03-23

22 in total

Review 1. 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 2. 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 3. 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

4. Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.

Authors: Jun-Jie Tong; Peter J Minogue; Wenji Guo; Tung-Ling Chen; Eric C Beyer; Viviana M Berthoud; Lisa Ebihara
Journal: Am J Physiol Cell Physiol Date: 2011-01-12 Impact factor: 4.249

5. 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

6. 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