about
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsCrystallin gene mutations in Indian families with inherited pediatric cataractTargeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formationA novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese familyMutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaPosterior polar cataract: genetic analysis of a large familyWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansMolecular and structural analysis of genetic variations in congenital cataractA novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).A new locus for autosomal recessive congenital cataract identified in a Pakistani family.Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.A novel human CRYGD mutation in a juvenile autosomal dominant cataractAlterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationAlpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humansA Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.A 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.Expression of the HSF4 DNA binding domain-EGFP hybrid gene recreates early childhood lamellar cataract in transgenic miceAn autosomal dominant cataract locus mapped to 19q13-qter in a Chinese family.Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese familyHematologic biomarkers in childhood cataracts.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityCoralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese familyStructural and biochemical characterization of the childhood cataract-associated R76S mutant of human γD-crystallin.A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract.Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral stateA novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese familyA Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.A γA-Crystallin Mouse Mutant Secc with Small Eye, Cataract and Closed Eyelid.
P2860
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P2860
description
2000 nî lūn-bûn
@nan
2000 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年学术文章
@wuu
2000年学术文章
@zh-cn
2000年学术文章
@zh-hans
2000年学术文章
@zh-my
2000年学术文章
@zh-sg
2000年學術文章
@yue
name
The genetics of childhood cataract
@ast
The genetics of childhood cataract
@en
type
label
The genetics of childhood cataract
@ast
The genetics of childhood cataract
@en
prefLabel
The genetics of childhood cataract
@ast
The genetics of childhood cataract
@en
P2093
P2860
P356
P1476
The genetics of childhood cataract
@en
P2093
Bhattacharya SS
Francis PJ
P2860
P304
P356
10.1136/JMG.37.7.481
P407
P577
2000-07-01T00:00:00Z