Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q
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Crystallin gene mutations in Indian families with inherited pediatric cataractCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qThe EPHA2 gene is associated with cataracts linked to chromosome 1pDifferentiation of Induced Pluripotent Stem Cells to Lentoid Bodies Expressing a Lens Cell-Specific Fluorescent ReporterDisulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallinIn vivo substrates of the lens molecular chaperones αA-crystallin and αB-crystallinMutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell deathTranscriptional regulation of mouse alpha A-crystallin gene in a 148kb Cryaa BAC and its derivatesFree-solution label-free detection of alpha-crystallin chaperone interactions by back-scattering interferometry.AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.Association of G>A transition in exon-1 of alpha crystallin gene in age-related cataractsThe small heat-shock protein HspL is a VirB8 chaperone promoting type IV secretion-mediated DNA transferCongenital 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.αA-Crystallin associates with α6 integrin receptor complexes and regulates cellular signaling.A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Mechanism of cataract formation in alphaA-crystallin Y118D mutation.αA-Crystallin-derived mini-chaperone modulates stability and function of cataract causing αAG98R-crystallinIdentification and characterization of a copper-binding site in αA-crystallin.A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qCongenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.A transgenic mouse model for human autosomal dominant cataractMutation analysis of two families with inherited congenital cataracts.Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.The human crystallin gene familiesNonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.Chemical modulation of the chaperone function of human alphaA-crystallin.The lens epithelium: focus on the expression and function of the alpha-crystallin chaperones.Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.Insights into the beaded filament of the eye lens.A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.Congenital cataracts and their molecular geneticsDifferential role of arginine mutations on the structure and functions of α-crystallin.Mechanism of insolubilization by a single-point mutation in alphaA-crystallin linked with hereditary human cataracts.Protein-protein interactions and lens transparency.
P2860
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P2860
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q
description
2003 nî lūn-bûn
@nan
2003 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Cell death triggered by a nove ...... aract linked to chromosome 21q
@ast
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en-gb
Cell death triggered by a nove ...... aract linked to chromosome 21q
@nl
type
label
Cell death triggered by a nove ...... aract linked to chromosome 21q
@ast
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en-gb
Cell death triggered by a nove ...... aract linked to chromosome 21q
@nl
prefLabel
Cell death triggered by a nove ...... aract linked to chromosome 21q
@ast
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en-gb
Cell death triggered by a nove ...... aract linked to chromosome 21q
@nl
P2860
P3181
P356
P1476
Cell death triggered by a nove ...... aract linked to chromosome 21q
@en
P2093
Alan Shiels
P2860
P2888
P304
P3181
P356
10.1038/SJ.EJHG.5201046
P407
P577
2003-10-01T00:00:00Z
P6179
1024512575