Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. - Wikidata - awgldk - TriplyDB

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

http://www.wikidata.org/entity/Q37228558

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Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies The IC3D classification of the corneal dystrophies Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives Zeb1 mutant mice as a model of posterior corneal dystrophy The ZEB1 transcription factor is a novel repressor of adiposity in female mice Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum Molecular mechanism of proinflammatory cytokine-mediated squamous metaplasia in human corneal epithelial cells.Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus Genetics of the corneal endothelial dystrophies: an evidence-based review.High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.Transcriptome analysis of the human corneal endothelium.Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy Molecular bases of corneal endothelial dystrophies.Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.Zeb1 represses Mitf and regulates pigment synthesis, cell proliferation, and epithelial morphology.Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States.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.Identification of Six Novel Mutations inZEB1and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3 Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium

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Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

http://www.wikidata.org/entity/Q37228558

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

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scientific article published on June 2007

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

@en

Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

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type

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Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

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Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

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prefLabel

Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

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Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

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Novel mutations in the ZEB1 ge ...... olymorphous corneal dystrophy.

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Alison J Hardcastle

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David L Boase

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Katerina Jirsova

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Margaret J Jeffrey

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Marike Pretorius

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Martin Filipec

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Neil D Ebenezer

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Neil Sinclair

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Quincy Prescott

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Radka Martincova

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P2860

Involvement of negative cofactor NC2 in active repression by zinc finger-homeodomain transcription factor AREB6

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.

The posterior corneal surface in posterior polymorphous dystrophy: a specular microscopical study.

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis.

Morphologic characteristics of posterior polymorphous dystrophy. A study of nine corneas and review of the literature.

The clinical spectrum of posterior polymorphous dystrophy.

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638

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scholarly article

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10.1002/HUMU.9495

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6

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28

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Petra Lišková

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2007-06-01T00:00:00Z

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6391826

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17437275

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posterior polymorphous corneal dystrophy

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2696796

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