Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
about
Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseasesThe ARVD/C genetic variants database: 2014 updateMechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyAutosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells.Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 geneiASPP/p63 autoregulatory feedback loop is required for the homeostasis of stratified epithelia.The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratodermaDominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/NoncompactionMutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Variant Carvajal syndrome with additional dental anomalies.Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature.When rare illuminates common: how cardiocutaneous syndromes transformed our perspective on arrhythmogenic cardiomyopathy.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.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.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Identification and characterization of DSPIa, a novel isoform of human desmoplakin.Palmoplantar keratoderma with curly hair.Evidence for genetic heterogeneity in Carvajal syndrome.Disorders of Keratinization
P2860
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P2860
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
description
im April 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 20 April 2006
@en
wetenschappelijk artikel (gepubliceerd in 2006-07)
@nl
наукова стаття, опублікована в липні 2006
@uk
name
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@en
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@nl
type
label
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@en
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@nl
prefLabel
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@en
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@nl
P2093
P356
P1476
Early death from cardiomyopath ...... ertion mutation in desmoplakin
@en
P2093
Bill Bowers
Colin S Munro
Elizabeth E Norgett
Irene M Leigh
Tom W Lucke
P2888
P304
P356
10.1038/SJ.JID.5700291
P407
P577
2006-04-20T00:00:00Z
P5875
P6179
1010273963