Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
EPAS1 induction drives myocardial degeneration in desmoplakin-cardiomyopathy.
Kyriakopoulou E et al.
Iscience, 2025
A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.
Lin C et al.
Frontiers in Medicine, 2025
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C et al.
Scientific Reports, 2024
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.
Andrei D et al.
Experimental Dermatology, 2024
The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy: Novel ECG Signs.
Calò L et al.
Jacc. Clinical Electrophysiology, 2023
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET et al.
Circulation. Genomic and Precision Medicine, 2023
36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SII
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
31386562 (PubMed )
Supplement: circgenetics_circcvg-2019-002467_supp1.pdf
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
Maruthappu T et al.
The British Journal of Dermatology, 2019
Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43.
Kam CY et al.
The Journal of Cell Biology, 2018
29959233 (PubMed )
Supplement: JCB_201710161_sm.pdf
Identification and characterization of DSPIa, a novel isoform of human desmoplakin.
Cabral RM et al.
Cell and Tissue Research, 2010
A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.
Asimaki A et al.
The New England Journal of Medicine, 2009
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.
Sen-Chowdhry S et al.
Journal of the American College of Cardiology, 2008
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