Advancement of congenital cataract in the responsible gene.
作者信息
Peng Li, Xie Qing
机构信息
Department of Ophthalmology, the Affiliated Haikou Hospital, Xiangya Medical School, Central South Univerdity/HaiKou Municipal Hospital, Haikou 570000, Hainan Province, China.
出版信息
Int J Ophthalmol. 2010;3(3):277-80. doi: 10.3980/j.issn.2222-3959.2010.03.23. Epub 2010 Sep 18.
Abstract
Congenital cataract is the leading cause for children's blindness in most countries. Approximately one third of all the causes of Congenital cataract are familial and autosomal dominant blindness infants. The etiology of congen ital cataract is heterogenous. With the development of molecular biology techniques, researches on the mechanism of congenital cataract have made great progress. This review focused on the molecular mechanism of congenital cataract.
摘要
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Advancement of congenital cataract in the responsible gene.
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1
EPHA2 is associated with age-related cortical cataract in mice and humans.
PLoS Genet. 2009 Jul;5(7):e1000584. doi: 10.1371/journal.pgen.1000584. Epub 2009 Jul 31.
2
Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
Mol Vis. 2009 Jul 30;15:1470-5.
3
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.
Mol Vis. 2009 Jul 10;15:1359-65.
4
5
Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.
Mol Vis. 2009 May 15;15:980-4.
6
Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China.
Mol Vis. 2009 May 8;15:949-54.
7
Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families.
Mol Vis. 2009;15:793-800. Epub 2009 Apr 17.
8
A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.
Mol Vis. 2009;15:276-82. Epub 2009 Feb 6.
9
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
BMC Med Genet. 2008 Nov 11;9:99. doi: 10.1186/1471-2350-9-99.
10
Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese family.
Mol Vis. 2008;14:1893-7. Epub 2008 Oct 22.
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