about
Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domainSomatic Variants in the Human Lens Epithelium: A Preliminary Assessment.The zebrafish eye-a paradigm for investigating human ocular genetics.A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmusJuvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.Exome Array Analysis of Nuclear Lens Opacity.Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.Screening, genetics, risk factors, and treatment of neonatal cataracts.Changes in function but not oligomeric size are associated with αB-crystallin lysine substitution.
P2860
Q33671000-294EB324-BE4C-4241-B262-08CF05C948F5Q37059952-8A58D9D4-ED7D-4F31-AE1E-8E91F55430FEQ37179645-D7E1B28C-347A-4269-ADD5-EBD5155CD92CQ38822858-CFEA5E38-AB92-4132-A143-900CF2438B27Q41231073-20D3A964-4653-4ABC-BDD0-A147B5CB887DQ47112735-FFE3F698-7309-49A8-ACC3-F2BC32628974Q47125740-BBEC7A57-E2DD-4A95-B527-3350744D81ACQ47403332-AAE89AD0-F745-48C4-9A61-B347E2A0D834Q47582410-3C44FC3C-8B9D-4FFF-BF3D-48834DD6EAE9Q48286993-CDA1D597-290F-4D41-9F5F-0F6D15CAECD7Q54361246-6E22A050-EA4F-4F65-87E6-F79A0D32845AQ55386878-5F1E4BE7-9F6C-4DB8-BC15-DC50B8E08914
P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh-hant
name
Molecular Genetics of Cataract.
@en
Molecular Genetics of Cataract.
@nl
type
label
Molecular Genetics of Cataract.
@en
Molecular Genetics of Cataract.
@nl
prefLabel
Molecular Genetics of Cataract.
@en
Molecular Genetics of Cataract.
@nl
P2860
P1476
Molecular Genetics of Cataract.
@en
P2093
Alan Shiels
J Fielding Hejtmancik
P2860
P304
P356
10.1016/BS.PMBTS.2015.05.004
P577
2015-06-12T00:00:00Z