Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
about
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin geneConnexin46 mutations in autosomal dominant congenital cataract.Detection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assayCell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qCrystallin gene mutations in Indian families with inherited pediatric cataractCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qAutosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2The gamma-crystallins and human cataracts: a puzzle made clearerA nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22qThe EPHA2 gene is associated with cataracts linked to chromosome 1pCrystal Structure of R120G Disease Mutant of Human αB-Crystallin Domain Dimer Shows Closure of a GrooveChanges in the quaternary structure and function of MjHSP16.5 attributable to deletion of the IXI motif and introduction of the substitution, R107G, in the -crystallin domainCrystal Structure of an Activated Variant of Small Heat Shock Protein Hsp16.5Structure of the crystallinsEffects of modifications of alpha-crystallin on its chaperone and other propertiesHot-spot residue in small heat-shock protein 22 causes distal motor neuropathyCompound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataractDisulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallinIdentification of subunit-subunit interaction sites in αA-WT crystallin and mutant αA-G98R crystallin using isotope-labeled cross-linker and mass spectrometryMechanism 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 deathRole of the C-terminal extensions of alpha-crystallins. Swapping the C-terminal extension of alpha-crystallin to alphaB-crystallin results in enhanced chaperone activityThe cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.Behavioral defects in chaperone-deficient Alzheimer's disease model mice.Small heat shock proteins Hspb7 and Hspb12 regulate early steps of cardiac morphogenesis.The R116C mutation in alpha A-crystallin diminishes its protective ability against stress-induced lens epithelial cell apoptosis.2-ammonio-6-(3-oxidopyridinium-1-yl)hexanoate (OP-lysine) is a newly identified advanced glycation end product in cataractous and aged human lenses.Transcriptional regulation of mouse alpha A-crystallin gene in a 148kb Cryaa BAC and its derivatesAlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice.Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses.Protein misfolding and degradation in genetic diseases.The eye lens cytoskeleton.Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)The small heat-shock protein HspL is a VirB8 chaperone promoting type IV secretion-mediated DNA transferA missense mutation in CRYBA4 associated with congenital cataract and microcornea.The genetics of childhood cataractStructural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts.Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway.Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humansA progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin.
P2860
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P2860
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@ast
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en-gb
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@nl
type
label
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@ast
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en-gb
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@nl
prefLabel
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@ast
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en-gb
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@nl
P2093
P3181
P356
P1476
Autosomal dominant congenital ...... an alpha crystallin gene CRYAA
@en
P2093
D M LaMorticella
E W Lovrien
R G Weleber
P3181
P356
10.1093/HMG/7.3.471
P407
P577
1998-03-01T00:00:00Z