Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

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http://www.wikidata.org/entity/Q37351442
Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.ZEB1 regulates glioma stemness through LIF repression.Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.Mutational spectrum of Korean patients with corneal dystrophy.Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
P2860

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

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http://www.wikidata.org/entity/Q37351442
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
@tr
scientific article published on 28 October 2015
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@en
Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@nl
type
label
Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@en
Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@nl
prefLabel
Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@en
Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@nl
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Heterozygous deletions at the ...... hous corneal dystrophy type 3.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P932