Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. - Wikidata - awgldk - TriplyDB

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

http://www.wikidata.org/entity/Q33571775

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Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies Age-severity relationships in families linked to FCD2 with retroillumination photography Fuchs’ corneal dystrophy Fuchs endothelial corneal dystrophy: current perspectives Regulation of C. elegans neuronal differentiation by the ZEB-family factor ZAG-1 and the NK-2 homeodomain factor CEH-28 Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus.Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy THz Medical Imaging: in vivo Hydration Sensing.In vivo modeling of the morbid human genome using Danio rerio A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum 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.A single-base substitution in the seed region of miR-184 causes EDICT syndrome.Prevalence and severity of fuchs corneal dystrophy in Tangier Island Polymorphism of the flap endonuclease 1 gene in keratoconus and Fuchs endothelial corneal dystrophy.Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Genetics of the corneal endothelial dystrophies: an evidence-based review.Transcriptome analysis of the human corneal endothelium.Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.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 Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.Proteomics of Fuchs' endothelial corneal dystrophy support that the extracellular matrix of Descemet's membrane is disordered A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs 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.Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.Molecular bases of corneal endothelial dystrophies.An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.THz and mm-Wave Sensing of Corneal Tissue Water Content: Electromagnetic Modeling and Analysis.

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P2860

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

http://www.wikidata.org/entity/Q33571775

description

2009 nî lūn-bûn

@nan

2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

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2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

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Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

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Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

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type

label

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

@ast

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

@en

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

@nl

prefLabel

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

@ast

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

@en

Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

@nl

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J.AJHG.2009.12.001

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American Journal of Human Genetics

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Missense mutations in TCF8 cau ...... ct with FCD4 on chromosome 9p.

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P2093

Amr Al-Saif

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Danielle N Meadows

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Gordon K Klintworth

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John D Gottsch

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Lisa Davey

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Mollie A Minear

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Natalie Afshari

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Norann A Zaghloul

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S Amer Riazuddin

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Simon G Gregory

http://www.w3.org/2001/XMLSchema#string

P2860

Corneal dystrophies

PLINK: a tool set for whole-genome association and population-based linkage analyses

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

SIFT: Predicting amino acid changes that affect protein function

Prediction of deleterious human alleles

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Easy calculations of lod scores and genetic risks on small computers

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

Dystrophy of the Corneal Endothelium (Cornea Guttata), with Report of a Histologic Examination.

The role of the ZEB family of transcription factors in development and disease.

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45-53

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scholarly article

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10.1016/J.AJHG.2009.12.001

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1

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86

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Nicholas Katsanis

Allen O Eghrari

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2009-12-31T00:00:00Z

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40785103

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20036349

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2801746

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