Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. - Wikidata - awgldk - TriplyDB

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

http://www.wikidata.org/entity/Q34667888

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Crystallin gene mutations in Indian families with inherited pediatric cataract A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly Differentiation of Induced Pluripotent Stem Cells to Lentoid Bodies Expressing a Lens Cell-Specific Fluorescent Reporter Molecular and structural analysis of genetic variations in congenital cataract Transcriptional regulation of mouse alpha A-crystallin gene in a 148kb Cryaa BAC and its derivates Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract.A novel human CRYGD mutation in a juvenile autosomal dominant cataract The congenital cataract-linked G61C mutation destabilizes γD-crystallin and promotes non-native aggregation A 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.Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.Mechanism of cataract formation in alphaA-crystallin Y118D mutation.αA-Crystallin-derived mini-chaperone modulates stability and function of cataract causing αAG98R-crystallin Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Mutation analysis of 12 genes in Chinese families with congenital cataracts.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity Mutation analysis of two families with inherited congenital cataracts.Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.Epidemiology and molecular genetics of congenital cataracts Congenital Cataract in Gpr161vl/vl Mice Is Modified by Proximal Chromosome 15.Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.A novel GJA8 mutation causing a recessive triangular cataract.Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Polymorphism rs7278468 is associated with Age-related cataract through decreasing transcriptional activity of the CRYAA promoter.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin Connexin mutants and cataracts Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes Congenital cataracts and their molecular genetics Differential role of arginine mutations on the structure and functions of α-crystallin.A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin.An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.

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Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

http://www.wikidata.org/entity/Q34667888

description

2007 nî lūn-bûn

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2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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Genetic heterogeneity in micro ...... ons in CRYAA, CRYGD, and GJA8.

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Genetic heterogeneity in micro ...... ons in CRYAA, CRYGD, and GJA8.

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Genetic heterogeneity in micro ...... ons in CRYAA, CRYGD, and GJA8.

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Genetic heterogeneity in micro ...... ons in CRYAA, CRYGD, and GJA8.

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Genetic heterogeneity in micro ...... ons in CRYAA, CRYGD, and GJA8.

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Genetic heterogeneity in micro ...... ons in CRYAA, CRYGD, and GJA8.

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Investigative Ophthalmology & Visual Science

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Hans Eiberg

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J Fielding Hejtmancik

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Kirsten Baggesen

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Klaus Wilbrandt Kjaer

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Lars Hansen

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Thomas Rosenberg

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Wenliang Yao

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3937-3944

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scholarly article

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10.1167/IOVS.07-0013

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