A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians
about
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qFunctional analysis of disease-causing mutations in human galactokinaseGalactose toxicity in animalsThe EPHA2 gene is associated with cataracts linked to chromosome 1pEPHA2 is associated with age-related cortical cataract in mice and humansNovel susceptibility genes associated with diabetic cataract in a Taiwanese populationElectronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.Cat-Map: putting cataract on the mapMolecular genetics of age-related cataract.Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.Clinical and experimental advances in congenital and paediatric cataracts.Nuclear cataract shows significant familial aggregation in an older population after adjustment for possible shared environmental factors.Cortical, but not posterior subcapsular, cataract shows significant familial aggregation in an older population after adjustment for possible shared environmental factors.Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese populationMajor intrinsic protein (MIP) polymorphism is associated with age-related cataract in Chinese.A spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse.Cataract formation and prevention.Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract.Genetic variations and polymorphisms in the ezrin gene are associated with age-related cataract.Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados.Genetics of human cataract.Etiopathogenesis of cataract: an appraisal.A comparative cDNA microarray analysis reveals a spectrum of genes regulated by Pax6 in mouse lens.Mutations and mechanisms in congenital and age-related cataracts.Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.Lens density tracking in mice by Scheimpflug imaging.Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.Developmental regulation of galactokinase in suckling mouse liver by the Egr-1 transcription factor.Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Molecular Genetics of Cataract.Association between gap junction protein-alpha 8 polymorphisms and age-related cataract.
P2860
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P2860
A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@ast
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@en
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@nl
type
label
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@ast
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@en
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@nl
prefLabel
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@ast
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@en
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@nl
P2093
P2860
P356
P1476
A genetic factor for age-relat ...... se variant, "Osaka," in Asians
@en
P2093
Fujimoto A
Murayama K
P2860
P304
P356
10.1086/319512
P407
P577
2001-02-23T00:00:00Z