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Literature DB >> 11424921

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.

V Sarhadi, A Reis, M Jung, D Singh, K Sperling, J R Singh, J Bürger.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Crystallins

Year: 2001 PMID： 11424921 PMCID： PMC1734905 DOI： 10.1136/jmg.38.6.392

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

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Cited

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37 in total

1. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Authors: Simeon A Boyadjiev; Cristina M Justice; Wafaa Eyaid; Victor A McKusick; Ralph S Lachman; Arnab B Chowdry; Monzer Jabak; Johan Zwaan; Alexander F Wilson; Ethylin Wang Jabs
Journal: Hum Genet Date: 2003-04-03 Impact factor: 4.132

Review 2. Genetic and epigenetic mechanisms of gene regulation during lens development.

Authors: Ales Cvekl; Melinda K Duncan
Journal: Prog Retin Eye Res Date: 2007-07-28 Impact factor: 21.198

Review 3. 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

4. Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

Authors: Vanita Vanita; Gao Guo; Daljit Singh; Claus-Eric Ott; Peter N Robinson
Journal: Mol Cell Biochem Date: 2014-07-27 Impact factor: 3.396

5. 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

6. 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

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene.

1. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Review 2. Genetic and epigenetic mechanisms of gene regulation during lens development.

Review 3. Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.

4. Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.

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

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

7. Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

8. Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.

9. Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

10. Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.