Condition: CATARACT, AUTOSOMAL DOMINANT
rs121912973 in
CRYAA;LOC107987300 gene and
CATARACT, AUTOSOMAL DOMINANT
PMID 17724170 2007 Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
PMID 10684623 2000 Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function.
PMID 11123904 2000 Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.
PMID 9467006 1998 Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
PMID 14512969 2003 Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
PMID 22045060 2012 Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.
PMID 22216983 2012 Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene.
PMID 16453125 2006 Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
PMID 22140512 2011 Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.
PMID 17296897 2007 New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
PMID 18302245 2008 Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA).
PMID 20079887 2010 Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability.
PMID 18085469 2007 Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin.
PMID 18407550 2008 A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family.
PMID 16735993 2006 A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
PMID 19503744 2009 An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.
PMID 22347476 2012 Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.