Molecular genetic basis of inherited cataract and associated phenotypes.
about
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese familyA novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataractWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansEarly transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 miceElectronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.Molecular and structural analysis of genetic variations in congenital cataractA novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataractsGlaucoma following congenital cataract surgery--the role of early surgery and posterior capsulotomyA novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum.Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreeNext-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese familyAbsence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.Association of G>A transition in exon-1 of alpha crystallin gene in age-related cataractsAbsence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationA novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.Cat-Map: putting cataract on the mapIdentification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated regionCongenital cataracts: de novo gene conversion event in CRYBB2.Blind attraction: the mechanism of an inherited congenital cataractA novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.Radiation hybrid mapping of cataract genes in the dog.A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese familyA novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese familyNovel human CRYGD rare variant in a Brazilian family with congenital cataract
P2860
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P2860
Molecular genetic basis of inherited cataract and associated phenotypes.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Molecular genetic basis of inherited cataract and associated phenotypes.
@ast
Molecular genetic basis of inherited cataract and associated phenotypes.
@en
type
label
Molecular genetic basis of inherited cataract and associated phenotypes.
@ast
Molecular genetic basis of inherited cataract and associated phenotypes.
@en
prefLabel
Molecular genetic basis of inherited cataract and associated phenotypes.
@ast
Molecular genetic basis of inherited cataract and associated phenotypes.
@en
P2093
P1476
Molecular genetic basis of inherited cataract and associated phenotypes.
@en
P2093
Anthony T Moore
M Ashwin Reddy
Peter J Francis
Shomi S Bhattacharya
Vanita Berry
P304
P356
10.1016/J.SURVOPHTHAL.2004.02.013
P577
2004-05-01T00:00:00Z