Literature DB >> 10982175

Congenital cataracts: gene mapping.

W He1, S Li.   

Abstract

Congenital cataracts are one of the major causes of induced blindness in children. Gene mapping is an important step in understanding the molecular defects of congenital cataracts. Some congenital cataract genes have been mapped, and more genes will be located and identified in the future. The locations and candidate locations of congenital cataract genes are discussed in this review.

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Year:  2000        PMID： 10982175     DOI： 10.1007/s004390051002

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Social economic development in the prevention of global blindness.

Authors:  V H Ho; I R Schwab
Journal:  Br J Ophthalmol       Date:  2001-06       Impact factor: 4.638

2.  Detection of c.139G>A (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing.

Authors:  Padma Gunda; Mamata Manne; Syed Saifuddin Adeel; Ravi Kumar Reddy Kondareddy; Padma Tirunilai
Journal:  J Genet       Date:  2018-09       Impact factor: 1.166

3.  Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.

Authors:  E Nandrot; C Slingsby; A Basak; M Cherif-Chefchaouni; B Benazzouz; Y Hajaji; S Boutayeb; O Gribouval; L Arbogast; A Berraho; M Abitbol; L Hilal
Journal:  J Med Genet       Date:  2003-04       Impact factor: 6.318

4.  A novel locus of coralliform cataract mapped to chromosome 2p24-pter.

Authors:  Linghan Gao; Wei Qin; Hao Cui; Guoyin Feng; Ping Liu; Weiqi Gao; Lin Ma; Pu Li; Lin He; Songbin Fu
Journal:  J Hum Genet       Date:  2005-06-03       Impact factor: 3.172

5.  The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

Authors:  Manèl Chograni; Imen Rejeb; Lamia Ben Jemaa; Myriam Châabouni; Habiba Chaabouni Bouhamed
Journal:  Eur J Hum Genet       Date:  2011-05-11       Impact factor: 4.246

6.  Radiation hybrid mapping of cataract genes in the dog.

Authors:  Linda S Hunter; Duska J Sidjanin; Jennifer L Johnson; Barbara Zangerl; Francis Galibert; Catherine Andre; Ewen Kirkness; Elijah Talamas; Gregory M Acland; Gustavo D Aguirre
Journal:  Mol Vis       Date:  2006-05-24       Impact factor: 2.367

7.  Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.

Authors:  Manèl Chograni; Myriam Chaabouni; Imen Chelly; Mohamed Bechir Helayem; Habiba Chaabouni-Bouhamed
Journal:  Mol Vis       Date:  2010-04-03       Impact factor: 2.367

8.  Novel human CRYGD rare variant in a Brazilian family with congenital cataract.

Authors:  Eugênio Santana de Figueirêdo; Gabriel Gorgone Giordano; Anderson Tavares; Márcio José da Silva; José Paulo Cabral de Vasconcellos; Carlos Eduardo Leite Arieta; Mônica Barbosa de Melo
Journal:  Mol Vis       Date:  2011-08-16       Impact factor: 2.367

9.  Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.

Authors:  Manèl Chograni; Myriam Chaabouni; Faouzi Mâazoul; Hedi Bouzid; Abdelhafid Kraiem; Habiba B Bouhamed Chaabouni
Journal:  BMC Ophthalmol       Date:  2011-11-21       Impact factor: 2.209

10.  Mutational screening of Indian families with hereditary congenital cataract.

Authors:  Surya Prakash Goud Ponnam; Kekkunaya Ramesha; Jyoti Matalia; Sushma Tejwani; Balasubramanya Ramamurthy; Chitra Kannabiran
Journal:  Mol Vis       Date:  2013-05-29       Impact factor: 2.367
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