A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2
about
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qGamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataractsCrystallin 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 BFSP2GFAP and its role in Alexander diseaseThe EPHA2 gene is associated with cataracts linked to chromosome 1pTmod1 and CP49 synergize to control the fiber cell geometry, transparency, and mechanical stiffness of the mouse lensCharacterization of covalent multimers of crystallins in aging human lenses.A temperature-sensitive mutation of Crygs in the murine Opj cataract.A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)Posttranslational modifications of the bovine lens beaded filament proteins filensin and CP49.A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataractA missense mutation in CRYBA4 associated with congenital cataract and microcornea.Real-time observation of coiled-coil domains and subunit assembly in intermediate filaments.Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.Prevention strategies for age related cataract: present limitations and future possibilities.Molecular genetics of age-related cataract.Clinical and experimental advances in congenital and paediatric cataracts.Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigreeIntermediate filaments regulate tissue size and stiffness in the murine lens.A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qInvestigation of crystallin genes in familial cataract, and report of two disease associated mutations.The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genesLens ion homeostasis relies on the assembly and/or stability of large connexin 46 gap junction plaques on the broad sides of differentiating fiber cells.The effect of the interaction between aquaporin 0 (AQP0) and the filensin tail region on AQP0 water permeabilityA transgenic mouse model for human autosomal dominant cataractConversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral stateA novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract.Enhancement of ubiquitin conjugation activity reduces intracellular aggregation of V76D mutant γD-crystallin.SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Insights into the beaded filament of the eye lens.Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese familyA new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
P2860
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P2860
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
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2000年论文
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name
A juvenile-onset, progressive ...... filament structural protein-2
@ast
A juvenile-onset, progressive ...... filament structural protein-2
@en
A juvenile-onset, progressive ...... filament structural protein-2
@nl
type
label
A juvenile-onset, progressive ...... filament structural protein-2
@ast
A juvenile-onset, progressive ...... filament structural protein-2
@en
A juvenile-onset, progressive ...... filament structural protein-2
@nl
prefLabel
A juvenile-onset, progressive ...... filament structural protein-2
@ast
A juvenile-onset, progressive ...... filament structural protein-2
@en
A juvenile-onset, progressive ...... filament structural protein-2
@nl
P2093
P2860
P356
P1476
A juvenile-onset, progressive ...... filament structural protein-2
@en
P2093
A Keravala
A Keverline
L R Barnes
P G FitzGerald
R E Ferrell
P2860
P304
P356
10.1086/302871
P407
P577
2000-03-22T00:00:00Z