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This study provided evidence that rs2076304 in exon 15 of the DSP gene is associated with a significantly increased risk of silicosis in a Han Chinese population.
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For arrhythmogenic right ventricular cardiomyopathy patients, both missense and non-missense desmoplakin mutations carry a high arrhythmic risk.
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Here the authors identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation.
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Using molecular dynamics simulations, study elucidated the structural basis of post-translational modifications-induced effects. Simulations, nearing 2 mus in aggregate, indicate that phosphorylation of S2849 induces an "arginine claw" in desmoplakin's C-terminal tail.
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Study identified DSP to be involved in the progressive intestinal injury associated with the development of Crohn's Disease complications via its effect on intestinal intercellular intermediate filament structure binding.
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report for the first time in Korea on monozygotic twins with lethal acantholytic epidermolysis bullosa caused by two novel nonsense mutations in the DSP gene
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Double heterozygotes for mutations in DSP and MYBPC3 showed a variable clinical presentation of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy.
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Study reports a DSP mutation in an association with progressive cardiac conduction disease and a high risk of sudden death. The pathogenicity of the newly identified genetic variant was confirmed by in vitro prediction analysis and familial segregation. These results suggest that the effect of the mutation might be partially due to abnormal function of ion channels as a consequence of desmosomal remodeling.
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DSP is a desmosomal protein critical to cell-cell adhesion in a variety of cell types and important in wound healing and epithelial barrier function.
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Novel desmoplakin frameshift deletion p.Thr2625fs (c.7871_7872delAC) was identified as a potential cause of heart disease and sudden cardiac death in a Polish family.
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This is the first report of DSP genetic screening in Chinese sudden unexplained nocturnal death syndrome (SUNDS) and Brugada syndrome. Our results imply that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome.
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Syndrome featuring erythrokeratodermia and cardiomyopathy (EKC) caused by mutation in DSP was described. Specific region of DSP protein critical to the pathobiology of EKC syndrome and to DSP function in the heart and skin was identified.
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novel de novo heterozygous missense mutation caused severe dermatitis, multiple allergies, and metabolic wasting syndrome
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There is higher incidence of Myocarditis in DSP mutation carriers affected by Arrhythmogenic right ventricular dysplasia.
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Case Reports: desmoplakin mutations associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations.
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Genetic testing revealed a novel combination of two heterozygous mutations in the DSP gene encoding desmoplakin
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Case Report: PKP2/DSP mutations in patient with Brugada syndrome and ventricular tachycardia.
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Patients whose MPM tissues expressed elevated mRNA levels of BIRC5, DSP, NME2, and THBS2 showed a statistically significant shorter overall survival.
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GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
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our data indicate that DP phosphorylation at S2849 represents an important mechanism in pemphigus pathogenesis
