Literature DB >> 20624502

Molecular characteristics of inherited congenital cataracts.

Bingyu Huang1, Weigong He.   

Abstract

Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Locating and identifying the genes and mutations involved in cataractogenesis are essential to gaining an understanding of the molecular defects and pathophysiologic characteristics of inherited congenital cataracts. In this review, we summarize the current research in this field.
Copyright © 2010 Elsevier Masson SAS. All rights reserved.

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Year:  2010        PMID: 20624502     DOI: 10.1016/j.ejmg.2010.07.001

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  39 in total

Review 1.  Brain connexins in demyelinating diseases: therapeutic potential of glial targets.

Authors:  Maria Luisa Cotrina; Maiken Nedergaard
Journal:  Brain Res       Date:  2012-07-10       Impact factor: 3.252

2.  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

3.  Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

Authors:  Smriti A Agrawal; Deepti Anand; Archana D Siddam; Atul Kakrana; Soma Dash; David A Scheiblin; Christine A Dang; Anne M Terrell; Stephanie M Waters; Abhyudai Singh; Hozumi Motohashi; Masayuki Yamamoto; Salil A Lachke
Journal:  Hum Genet       Date:  2015-04-21       Impact factor: 4.132

4.  Analyzing the Association of Polymorphisms in the CRYBB2 Gene with Prostate Cancer Risk in African Americans.

Authors:  Mezbah U Faruque; Rabindra Paul; Luisel Ricks-Santi; Emmanuel Y Jingwi; Chiledum A Ahaghotu; Georgia M Dunston
Journal:  Anticancer Res       Date:  2015-05       Impact factor: 2.480

5.  Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

Authors:  Mei Ren; Xin Guang Yang; Xiao Jie Dang; Jin An Xiao
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2016-10-26       Impact factor: 3.117

6.  Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.

Authors:  Olga Messina-Baas; Manuel L Gonzalez-Garay; Luz M González-Huerta; Jaime Toral-López; Sergio A Cuevas-Covarrubias
Journal:  Mol Syndromol       Date:  2016-04-14

7.  Clinical presentation, treatment, and genetic and histopathological analysis of juvenile cataracts and secondary glaucoma in a rhesus macaque (Macaca mulatta).

Authors:  M Isabel Casanova; Rui Chen; Laura M Garzel; Katherine J Olstad; Soohyun Kim; Ronald Alan Harris; Yumei Li; Muthuswamy Raveendran; Qingnan Liang; Jun Wang; Glenn Yiu; John Timothy Stout; Jeffrey A Roberts; Jeffrey Rogers; Ala Moshiri; Sara M Thomasy
Journal:  J Med Primatol       Date:  2021-12-12       Impact factor: 0.667

Review 8.  The relationship between major intrinsic protein genes and cataract.

Authors:  Wen Sun; Jiawei Xu; Yangshun Gu; Chixin Du
Journal:  Int Ophthalmol       Date:  2020-09-12       Impact factor: 2.031

9.  A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain.

Authors:  Ashley C Johnson; Jonathan W Lee; Ashlyn C Harmon; Zaliya Morris; Xuexiang Wang; Jonathan Fratkin; John P Rapp; Elise Gomez-Sanchez; Michael R Garrett
Journal:  Mamm Genome       Date:  2013-02-13       Impact factor: 2.957

10.  Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Authors:  Linda M Reis; Rebecca C Tyler; Sanaa Muheisen; Victor Raggio; Leonardo Salviati; Dennis P Han; Deborah Costakos; Hagith Yonath; Sarah Hall; Patricia Power; Elena V Semina
Journal:  Hum Genet       Date:  2013-03-19       Impact factor: 4.132

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