CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
about
Structure of cellular ESCRT-III spirals and their relationship to HIV buddingPlasma membrane deformation by circular arrays of ESCRT-III protein filamentsCrystallin gene mutations in Indian families with inherited pediatric cataractThe EPHA2 gene is associated with cataracts linked to chromosome 1pMutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuriaA novel HSF4 gene mutation causes autosomal-dominant cataracts in a Chinese family.Endocytic regulation of alkali metal transport proteins in mammals, yeast and plants.A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigreeNovel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.Membrane fission reactions of the mammalian ESCRT pathway.Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.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.Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.Cat-Map: putting cataract on the mapA Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataractCombinational 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 pedigreeA recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13qAnother evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.Molecular characterization of mouse lens epithelial cell lines and their suitability to study RNA granules and cataract associated genesRecurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.iSyTE: integrated Systems Tool for Eye gene discovery.Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese familyCongenital cataracts and their molecular geneticsIdentification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataractA novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.
P2860
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P2860
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
description
2007 nî lūn-bûn
@nan
2007 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@ast
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en-gb
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@nl
type
label
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@ast
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en-gb
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@nl
prefLabel
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@ast
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en-gb
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@nl
P2093
P2860
P3181
P356
P1476
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
@en
P2093
Alan Shiels
Harry L S Knopf
Koh-ichiro Yoshiura
Koki Yamada
Norio Niikawa
Phyllis I Hanson
Soomin Shim
Thomas M Bennett
P2860
P304
P3181
P356
10.1086/519980
P407
P577
2007-09-01T00:00:00Z