- ►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
- ►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
- ►bmj.com CE Willoughby, S Arab, R Gandhi, S Zeinali, S … - British Medical Journal, 2003 - jmg.bmj.com Previous genetic studies of congenital cataracts identified connexin 50 (Cx50)
as a cataract related gene. 10– 12 Here we report a novel heterozygous R23T
mutation in the GJA8 gene (MIM#600897) encoding connexin 50, in an Iranian ... Cited by 39 - Related articles - All 14 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
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
- ►iovs.org [PDF] X Xu, L Ebihara - Investigative ophthalmology & visual science, 1999 - ARVO PURPOSE. To study the role of caspase-like proteases, espe- cially roles of more
extensively characterized caspase-1 and caspase-2, in apoptotic photoreceptor
cell degenera- tion in Royal College of Surgeons (RCS) rats. METHODS. Both ... Cited by 22 - Related articles - BL Direct - All 3 versions
- ►oxfordjournals.org B Chang, X Wang, NL Hawes, R Ojakian, MT … - Human Molecular Genetics, 2002 - Oxford Univ Press Mutations of connexin 8 (GJA8 or Cx50) and connexin 3 (GJA3 or Cx46) in humans
have been reported to cause cataracts with semi-dominant inheritance patterns.
Targeted null mutations in Gja8 and Gja3 in mice cause cataracts with ... Cited by 33 - Related articles - BL Direct - All 6 versions
- ►bmj.com [PDF] Z Ma, J Zheng, F Yang, J Ji, X Li, X Tang, X … - British Medical Journal, 2005 - bjo.bmj.com Bilateral naevus of Ota with choroidal melanoma and diffuse retinal pigmentation
in a dark skinned person Naevus of Ota (naevus fusculocoeruleus
ophthalmomaxillaris) was described by the Japanese dermatologist, Ota, in ... Cited by 15 - Related articles - All 9 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
