about
Temperature-dependent structural and functional properties of a mutant (F71L) αA-crystallin: molecular basis for early onset of age-related cataractLooking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattleThe Human W42R D-Crystallin Mutant Structure Provides a Link between Congenital and Age-related CataractsNuclear Magnetic Resonance Structure of a Major Lens Protein, Human γC-Crystallin: Role of the Dipole Moment in Protein SolubilityCompound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataractWolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humansThe mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataractMutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.Molecular and structural analysis of genetic variations in congenital cataractTargeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataractConnexin46fs380 causes progressive cataracts.Congenital cataracts: de novo gene conversion event in CRYBB2.Blind attraction: the mechanism of an inherited congenital cataractCataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataractStructural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparencyMutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.Mutations in FYCO1 cause autosomal-recessive congenital cataracts.Mutational screening of six genes in Chinese patients with congenital cataract and microcornea.Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.Mutation analysis of 12 genes in Chinese families with congenital cataracts.A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qA novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.Overexpression of human γC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice.Further analysis of the lens phenotype in Lim2-deficient mice.Molecular characterization of mouse lens epithelial cell lines and their suitability to study RNA granules and cataract associated genesCongenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.Association between a Tetranucleotide Repeat Polymorphism of SPAG16 Gene and Cataract in Male Children.A spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse.A stochastic model of eye lens growth.Transcriptome Profiling of Developing Murine Lens Through RNA SequencingStructural and biochemical characterization of the childhood cataract-associated R76S mutant of human γD-crystallin.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Cat-Map: putting cataract on the map
@ast
Cat-Map: putting cataract on the map
@en
Cat-Map: putting cataract on the map
@nl
type
label
Cat-Map: putting cataract on the map
@ast
Cat-Map: putting cataract on the map
@en
Cat-Map: putting cataract on the map
@nl
prefLabel
Cat-Map: putting cataract on the map
@ast
Cat-Map: putting cataract on the map
@en
Cat-Map: putting cataract on the map
@nl
P2093
P2860
P1433
P1476
Cat-Map: putting cataract on the map
@en
P2093
Alan Shiels
J Fielding Hejtmancik
Thomas M Bennett
P2860
P304
P5008
P577
2010-10-08T00:00:00Z