Literature DB >> 12876830

Molecular genetics of cataract.

J Fielding Hejtmancik1, Nizar Smaoui.   

Abstract

Advances in genetic technology and analytical algorithms have greatly accelerated elucidation of the genetic contribution to cataractogenesis. Currently, 27 isolated or primary cataract loci have been identified by linkage analysis or mutational screening, and 20 are associated with specific genes. These are beginning to provide a framework for thinking of congenital cataracts. In addition to clues provided by the study of congenital and childhood cataracts, new experimental approaches to age-related cataracts are beginning to provide insights into its genetic origins.

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Year:  2003        PMID: 12876830     DOI: 10.1159/000072039

Source DB:  PubMed          Journal:  Dev Ophthalmol        ISSN: 0250-3751


  36 in total

1.  Molecular genetic analysis of autosomal dominant late-onset cataract in a Chinese Family.

Authors:  Guohua Yang; Shan Zhong; Xianrong Zhang; Biwen Peng; Jun Li; Tie Ke; Hua Xu
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2010-12-22

2.  Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant.

Authors:  Nabanita Nag; Katherine Peterson; Keith Wyatt; Sonja Hess; Sugata Ray; Jack Favor; Debora Bogani; Mary Lyon; Graeme Wistow
Journal:  Genomics       Date:  2007-01-12       Impact factor: 5.736

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.  Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Authors:  Haiba Kaul; S Amer Riazuddin; Mariam Shahid; Samra Kousar; Nadeem H Butt; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Mol Vis       Date:  2010-03-24       Impact factor: 2.367

5.  Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Authors:  Afshan Yasmeen; S Amer Riazuddin; Haiba Kaul; Sadia Mohsin; Mohsin Khan; Zaheeruddin A Qazi; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Mol Vis       Date:  2010-04-15       Impact factor: 2.367

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

7.  Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study.

Authors:  Sudha K Iyengar; Barbara E K Klein; Ronald Klein; Gyungah Jun; James H Schick; Christopher Millard; Rachel Liptak; Karlie Russo; Kristine E Lee; Robert C Elston
Journal:  Proc Natl Acad Sci U S A       Date:  2004-09-27       Impact factor: 11.205

8.  Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.

Authors:  Jin Jiang; Chongfei Jin; Wei Wang; Xiajing Tang; Xingchao Shentu; Renyi Wu; Yao Wang; Kun Xia; Ke Yao
Journal:  Mol Vis       Date:  2009-01-12       Impact factor: 2.367

9.  AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.

Authors:  Usha P Andley
Journal:  BMC Ophthalmol       Date:  2009-07-20       Impact factor: 2.209

10.  A new locus for autosomal recessive congenital cataract identified in a Pakistani family.

Authors:  Haiba Kaul; S Amer Riazuddin; Afshan Yasmeen; Sadia Mohsin; Mohsin Khan; Idrees A Nasir; Shaheen N Khan; Tayyab Husnain; Javed Akram; J Fielding Hejtmancik; Sheikh Riazuddin
Journal:  Mol Vis       Date:  2010-02-16       Impact factor: 2.367

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