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Scholar Results 1 - 10 of about 15 citing Ma: Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital.... (0.08 sec) 

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and …


RR Devi, P Vijayalakshmi - Mol Vis, 2006 - molvis.org
Methods: The coding region of GJA8 was analyzed for mutation by single strand
conformational polymorphism in 60 probands affected with congenital or
developmental cataract of which 11 probands' corneal diameter measured less ...
Cited by 19 - Related articles - Cached - All 6 versions

Congenital cataracts and their molecular genetics

- nih.gov
JF Hejtmancik - Seminars in Cell and Developmental Biology, 2007 - Elsevier
Cataract can be defined as any opacity of the crystalline lens. Congenital
cataract is particularly serious because it has the potential for inhibiting
visual development, resulting in permanent blindness. Inherited cataracts ...
Cited by 17 - Related articles - All 3 versions

Gene Conversion Mutation in Crystallin, β-B2 (CRYBB2) in a Chilean Family with …


JB Bateman, FRB von-Bischhoffshaunsen, L … - Ophthalmology, 2007 - Elsevier
Cited by 10 - Related articles - All 3 versions

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin


V Vanita, JR Singh, D Singh, R Varon, K … - Molecular Vision, 2008 - pubmedcentral.nih.gov
Affected individuals had a jellyfish-like cataract in association with
microcornea. Sequencing of GJA8 (connexin 50) showed a novel, heterozygous
c.134G→C change that resulted in the substitution of a highly conserved ...
Cited by 6 - Related articles - All 6 versions

Oxidative stress, lens gap junctions, and cataracts


VM Berthoud, EC Beyer - Antioxidants & Redox Signaling, 2009 - liebertonline.com
The eye lens is constantly subjected to oxidative stress from radiation and
other sources. The lens has several mechanisms to protect its components from
oxidative stress and to maintain its redox state, including enzy- matic ...
Cited by 6 - Related articles - All 4 versions

[PDF] A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant …


K Guleria, K Sperling, D Singh, R Varon, JR … - Mol Vis, 2007 - molvis.org
Congenital cataract is one of the significant causes of visual impairment in
infants. It is clinically and genetically a highly heterogeneous lens disorder
with autosomal dominant inheritance being most common. Congenital cataract ...
Cited by 4 - Related articles - View as HTML - All 3 versions

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50

- iovs.org
BC Thomas, PJ Minogue, V Valiunas, G … - Investigative ophthalmology & visual science, 2008 - ARVO
RESULTS. HeLa cells stably transfected with CX50R23T or wild-type CX50 produced
immunoreactive CX50 bands of identical electrophoretic mobility. Whereas HeLa
cells stably expressing CX50 contained abundant gap junction plaques, ...
Cited by 5 - Related articles - BL Direct - All 4 versions

A novel “pearl box” cataract associated with a mutation in the connexin 46 (GJA3) gene


K Guleria, V Vanita, D Singh, JR Singh - Mol Vis, 2007 - molvis.org
Results: Sequencing of the coding region of GJA3 showed the presence of a novel,
heterozygous C260T change in one family (CC-472) who had two affected members.
The cataract phenotype gave the appearance like a "pearl box" in these two ...
Cited by 4 - Related articles - Cached - All 3 versions

A mutation in GJA8 (p. P88Q) is associated with “balloon-like” cataract with Y-sutural …


V Vanita, JR Singh, D Singh, R Varon, K … - Molecular Vision, 2008 - pubmedcentral.nih.gov
This is an open-access article distributed under the terms of the Creative
Commons Attribution License, which permits unrestricted use, distribution, and
reproduction in any medium, provided the original work is properly cited.
Cited by 1 - Related articles - All 5 versions

A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1


L Wang, H Lin, Y Shen, S Huang, J Gu, H Su, … - Mol Vis, 2007 - molvis.org
Methods: Genomic DNAs were obtained from 17 family members in a four-generation
Chinese family, who had eight members affected with cataract. Exclusive linkage
analysis of known candidate inherited cataract loci was performed. A ...
Cited by 1 - Related articles - Cached - All 3 versions


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