CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype
about
Crystallin gene mutations in Indian families with inherited pediatric cataractbetaA3/A1-crystallin in astroglial cells regulates retinal vascular remodeling during developmentDevelopment of novel filtering criteria to analyze RNA-sequencing data obtained from the murine ocular lens during embryogenesisIdentification of crystallin modifications in the human lens cortex and nucleus using laser capture microdissection and CyDye labeling.A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreeA Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Phosphoproteomics characterization of novel phosphorylated sites of lens proteins from normal and cataractous human eye lensesA novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese familyMutation analysis of 12 genes in Chinese families with congenital cataracts.CRYβA3/A1-Crystallin Knockout Develops Nuclear Cataract and Causes Impaired Lysosomal Cargo Clearance and Calpain Activation.Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)A developmental defect in astrocytes inhibits programmed regression of the hyaloid vasculature in the mammalian eye.A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataractComparative proteomics analysis of degenerative eye lenses of nocturnal rice eel and catfish as compared to diurnal zebrafishCongenital cataracts and their molecular geneticsIdentification of interaction sites between human betaA3- and alphaA/alphaB-crystallins by mammalian two-hybrid and fluorescence resonance energy transfer acceptor photobleaching methods.Crystallin {gamma}B-I4F mutant protein binds to {alpha}-crystallin and affects lens transparency.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Decreasing the homodimer interaction: a common mechanism shared by the deltaG91 mutation and deamidation in betaA3-crystallin.Interaction of βA3-Crystallin with Deamidated Mutants of αA- and αB-Crystallins.
P2860
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P2860
CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
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
name
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@ast
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@en
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@nl
type
label
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@ast
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@en
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@nl
prefLabel
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@ast
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@en
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@nl
P2093
P356
P1476
CRYBA3/A1 gene mutation associ ...... ar cataract: a novel phenotype
@en
P2093
Daniel F Schorderet
Francis L Munier
Philippe Othenin-Girard
Sylvie Uffer
Walter Ferrini
P304
P356
10.1167/IOVS.03-0760
P407
P50
P577
2004-05-01T00:00:00Z