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

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

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

http://www.wikidata.org/entity/Q34100071

about

Corneal dystrophies Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 Fuchs’ corneal dystrophy The IC3D classification of the corneal dystrophies Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives Fuchs endothelial corneal dystrophy: current perspectives Historical Review and Update of Surgical Treatment for Corneal Endothelial Diseases Zeb1 mutant mice as a model of posterior corneal dystrophy A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.Prospects for gene therapy in corneal disease.Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.Unfolded protein response in fuchs endothelial corneal dystrophy: a unifying pathogenic pathway?The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene Extracellular matrix molecules: potential targets in pharmacotherapy.Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus Recent progress in histochemistry and cell biology.Genome-wide association studies: applications and insights gained in Ophthalmology.N-Acetylcysteine increases corneal endothelial cell survival in a mouse model of Fuchs endothelial corneal dystrophy Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.An atlas of DNA methylomes in porcine adipose and muscle tissues.Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Genetics of the corneal endothelial dystrophies: an evidence-based review.Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.Alterations in the aqueous humor proteome in patients with Fuchs endothelial corneal dystrophy.High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant Proteomics of Fuchs' endothelial corneal dystrophy support that the extracellular matrix of Descemet's membrane is disordered Fuchs endothelial corneal dystrophy A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.Transcript profile of cellular senescence-related genes in Fuchs endothelial corneal dystrophy.

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

http://www.wikidata.org/entity/Q34100071

description

2001 nî lūn-bûn

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2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2001 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Human Molecular Genetics

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Missense mutations in COL8A2, ...... corneal endothelial dystrophy.

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Batterbury M

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Black GC

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