Literature DB >> 22553572

Advancement of congenital cataract in the responsible gene.

Li Peng1, Qing Xie.   

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.

Entities:  

Keywords:  congenital cataract; responsible gene

Year:  2010        PMID： 22553572      PMCID： PMC3340630          DOI： 10.3980/j.issn.2222-3959.2010.03.23

Source DB:  PubMed          Journal:  Int J Ophthalmol        ISSN： 2222-3959            Impact factor:   1.779


  28 in total

1.  A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

Authors:  E Pras; O Mahler; V Kumar; M Frydman; N Gefen; E Pras; J F Hejtmancik
Journal:  J Med Genet       Date:  2006-10       Impact factor: 6.318

2.  A locus for isolated cataract on human Xp.

Authors:  P J Francis; V Berry; A J Hardcastle; E R Maher; A T Moore; S S Bhattacharya
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

3.  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

Review 4.  Molecular genetics of cataract.

Authors:  J Fielding Hejtmancik; Nizar Smaoui
Journal:  Dev Ophthalmol       Date:  2003

5.  Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

Authors:  K P Burdon; M G Wirth; D A Mackey; I M Russell-Eggitt; J E Craig; J E Elder; J L Dickinson; M M Sale
Journal:  Br J Ophthalmol       Date:  2004-01       Impact factor: 4.638

6.  Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.

Authors:  Frantisek Liska; Blanka Chylíková; Jindrich Martínek; Vladimír Kren
Journal:  Mol Vis       Date:  2008-05-07       Impact factor: 2.367

7.  EPHA2 is associated with age-related cortical cataract in mice and humans.

Authors:  Gyungah Jun; Hong Guo; Barbara E K Klein; Ronald Klein; Jie Jin Wang; Paul Mitchell; Hui Miao; Kristine E Lee; Tripti Joshi; Matthias Buck; Preeti Chugha; David Bardenstein; Alison P Klein; Joan E Bailey-Wilson; Xiaohua Gong; Tim D Spector; Toby Andrew; Christopher J Hammond; Robert C Elston; Sudha K Iyengar; Bingcheng Wang
Journal:  PLoS Genet       Date:  2009-07-31       Impact factor: 5.917

8.  A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Authors:  Naheed Sajjad; Ingrid Goebel; Naseebullah Kakar; Abdul Majeed Cheema; Christian Kubisch; Jamil Ahmad
Journal:  BMC Med Genet       Date:  2008-11-11       Impact factor: 2.103

9.  Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Authors:  Emre Zafer; Jeanne Meck; Liora Gerrad; Elon Pras; Moshe Frydman; Orit Reish; Isaac Avni; Eran Pras
Journal:  Mol Vis       Date:  2008-03-14       Impact factor: 2.367

10.  Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

Authors:  Feifeng Li; Shuzhen Wang; Chang Gao; Shiguo Liu; Baojian Zhao; Meng Zhang; Shangzhi Huang; Siquan Zhu; Xu Ma
Journal:  Mol Vis       Date:  2008-03-04       Impact factor: 2.367
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