A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family
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Crystallin gene mutations in Indian families with inherited pediatric cataractA missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish familyA mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani familyA nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22qEarly transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 miceAlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.A new locus for autosomal recessive congenital cataract identified in a Pakistani family.Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses.Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract.Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.Association of G>A transition in exon-1 of alpha crystallin gene in age-related cataractsAlpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humansA progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.Mechanism of cataract formation in alphaA-crystallin Y118D mutation.Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3qAltered chaperone-like activity of alpha-crystallins promotes cataractogenesis.Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.Clinical and experimental advances in congenital and paediatric cataracts.Mutations in FYCO1 cause autosomal-recessive congenital cataracts.Mutation analysis of 12 genes in Chinese families with congenital cataracts.Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityCurrent gene discovery strategies for ocular conditionsCongenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.Missense Mutations in CRYAB Are Liable for Recessive Congenital CataractsA Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsDeletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsPhenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)Enhancement of ubiquitin conjugation activity reduces intracellular aggregation of V76D mutant γD-crystallin.The human crystallin gene familiesA novel GJA8 mutation causing a recessive triangular cataract.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cellsInvestigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes
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P2860
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family
description
article
@en
im Oktober 2000 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
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наукова стаття, опублікована в жовтні 2000
@uk
ലേഖനം
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name
A nonsense mutation (W9X) in C ...... n inbred Jewish Persian family
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A nonsense mutation
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type
label
A nonsense mutation (W9X) in C ...... n inbred Jewish Persian family
@en
A nonsense mutation
@nl
prefLabel
A nonsense mutation (W9X) in C ...... n inbred Jewish Persian family
@en
A nonsense mutation
@nl
P2093
P1476
A nonsense mutation (W9X) in C ...... n inbred Jewish Persian family
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P2093
Levy-Nissenbaum E
P304
P407
P577
2000-10-01T00:00:00Z