Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa - Wikidata - awgldk - TriplyDB

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

http://www.wikidata.org/entity/Q34700774

about

Desmosome regulation and signaling in disease Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Desmosomal genodermatoses.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Desmosomes in the heart: a review of clinical and mechanistic analyses.Inherited desmosomal disorders.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.Mimickers of classic acantholytic diseases.Atypical epidermolysis bullosa simplex with a missense keratin 14 mutation p.Arg125Cys.

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P2860

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa

http://www.wikidata.org/entity/Q34700774

description

2010 nî lūn-bûn

@nan

2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@ast

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@en

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@nl

type

label

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@ast

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@en

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@nl

prefLabel

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@ast

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@en

Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@nl

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P1433

Journal of Investigative Dermatology

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Insights from a desmoplakin mu ...... tholytic epidermolysis bullosa

@en

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Jan D H Jongbloed

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

Kathleen J Green

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

Marcel F Jonkman

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

Marieke C Bolling

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

Paul A van der Zwaag

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

Ryan P Hobbs

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

Sandra Y Han

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

Spiro Getsios

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

P2860

Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy

Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

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P304

2680-2683

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scholarly article

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10.1038/JID.2010.189

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P433

11

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130

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2010-07-08T00:00:00Z

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45102255

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1035112487

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P698

20613772

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P921

Lethal acantholytic epidermolysis bullosa

P932

3061313

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