Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
By E. Norgett, S. Hatsell, L. Carvajal-Huerta, Juan-Carlos Ruiz Cabezas, J. Common, P. Purkis, N. Whittock, I. Leigh, H. Stevens, D. Kelsell. Human Molecular Genetics, 2000
805 citations recorded by the source corpus.
Subfields: Cardiology and Cardiovascular Medicine, Cell Biology, Cellular and Molecular Neuroscience
View Paper: https://www.semanticscholar.org/paper/dded47ca71475004e395530bf0b25ec772e8725f
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In Cardiology and Cardiovascular Medicine
Citations in the corpus
- Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (2002, background): “Gene encoding desmoplakin (DSP), located between D6S1640 and D6S309, appeared as a candidate, since a homozygous DSP nonsense mutation was reported to cause, in an Ecuadorian family, a biventricular dilative cardiomyopathy associated with keratoderma and woolly hairs (Carvajal-Huerta 1998; Norgett e”
- 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “by variants in one of several desmosomal genes (see Genetics, below).(23-26)”