- ►nih.gov A Arora, PJ Minogue, X Liu, PK Addison, I … - British Medical Journal, 2008 - jmg.bmj.com Results: Screening of the GJA8 gene identified a 139 G to A transition that
resulted in the replacement of aspartic acid by asparagine (D47N) in the coding
region of Cx50. This change co-segregated with cataract among affected ... Cited by 9 - Related articles - BL Direct - All 4 versions
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
M Yan, C Xiong, SQ Ye, Y Chen, M Ke, F … - Molecular Vision, 2008 - pubmedcentral.nih.gov A whole family of a proband who has a dominant congenital pulverulent nuclear
cataract was recruited into Zhongnan Hospital. The lenses of patients were
observed by a slit-lamp microscope, and the lenses of the proband's mother ... Cited by 5 - Related articles - All 6 versions
- ►biologists.org AM DeRosa, CH Xia, X Gong, TW White - Journal of Cell Science, 2007 - jcs.biologists.org Mutations within connexin50 (Cx50) have been linked to various cataract
phenotypes. To determine the mechanism behind cataract formation we used the
paired Xenopus oocyte system in conjunction with transfected HeLa cells and ... Cited by 5 - Related articles - BL Direct - All 5 versions
- ►nih.gov A Arora, PJ Minogue, X Liu, MA Reddy, JR … - British Medical Journal, 2006 - jmg.bmj.com Results: A 262C>A transition that resulted in the replacement of proline by
glutamine (P88Q) in the coding region of connexin50 (Cx50) was identified.
hCx50P88Q did not induce intercellular conductance and significantly ... Cited by 27 - Related articles - All 9 versions
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
V Vanita, HC Hennies, D Singh, P Nurnberg, K … - Mol Vis, 2006 - molvis.org Results: A maximum two point lod score of 5.45 at θ=0.00 was obtained with
marker D1S534. Haplotype analysis placed the cataract locus to a 14.1 cM region
between D1S221 and D1S498, in close proximity to the gene for the gap ... Cited by 15 - Related articles - Cached - All 4 versions
- ►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
SPG Ponnam, K Ramesha, S Tejwani, B … - BMJ Case Reports, 2009 - casereports.bmj.com GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in
GJA8 have been reported in families with autosomal dominant cataract. The
objective of this report was to identify the disease gene in a family with ... Cited by 11 - Related articles - All 3 versions
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
