Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Item
http://www.wikidata.org/entity/Q36473376
Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Non-Coding Loss-of-Function Variation in Human Genomes.Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene ExpressionConfirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.Altered TERT promoter and other genomic regulatory elements: occurrence and impact.Retinal pathology in the PPCD1 mouse.Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.Single-base substitutions in the CHM promoter as a cause of choroideremia.Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.OVOL2 links stemness and metastasis via fine-tuning epithelial-mesenchymal transition in nasopharyngeal carcinoma.An -Ethyl--Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion
P2860

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Item
http://www.wikidata.org/entity/Q36473376
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-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
2015年學術文章
@zh-hant
name
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@ast
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@en
type
label
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@ast
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@en
prefLabel
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@ast
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Autosomal-Dominant Corneal End ...... tions in the Promoter of OVOL2
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2015.11.018
P407
P433
P478
P50
P577
P5875
P698
P921
P932