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anti-Mouse (Murine) Desmoplakin Antikörper:
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Cow (Bovine) Polyclonal Desmoplakin Primary Antibody für ELISA - ABIN4267915
Barahona-Dussault, Benito, Campuzano, Iglesias, Leung, Robb, Talajic, Brugada: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. in Clinical genetics 2010
Deletion of Dsp under the transcriptional regulation of the CSPG4 (zeige MCSP Antikörper) locus led to phenotype resembling the human cardiocutaneous syndromes.
Conditional heterozygous deletion of Dsp in mice led to increased fibroadipogenesis in the heart and mild cardiac dysfunction.
Our data suggest that endurance exercise accelerates arrhythmogenic ventricular cardiomyopathy pathogenesis in transgenic DSP mice
GSK3- and PRMT-1 (zeige PRMT1 Antikörper)-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
These data indicate a function of desmoplakin in motor nerve regeneration by linking N-cadherin (zeige CDH2 Antikörper) to intermediate filaments in regenerating motor axons.
A loss of desmoplakin expression led to an abnormal distribution of Cx43 (zeige GJA1 Antikörper) and Nav1.5 (zeige SCN5A Antikörper), while scrapeloading dye/transfer revealed a decrease in dye transfer in DSP siRNAtreated cells.
the desmosomal protein desmoplakin is not essential for cell adhesion in the intestinal epithelium.
Fxr1 (zeige FXR1 Antikörper) knockout hearts exhibit an up-regulation of desmoplakin and talin2 proteins, which is accompanied by severe disruption of desmosome as well as costamere architecture and composition in the heart
Loss of desmoplakin expression and resultant disruption of desmosomal adhesion can promote increased local tumor invasion independent of adherens junction status.
desmoplakin has a role in capillary formation
Double heterozygotes for mutations in DSP and MYBPC3 (zeige MYBPC3 Antikörper) showed a variable clinical presentation of arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy.
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.
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.
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.
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.
Syndrome featuring erythrokeratodermia and cardiomyopathy (EKC (zeige TAC4 Antikörper)) caused by mutation in DSP was described. Specific region of DSP protein critical to the pathobiology of EKC (zeige TAC4 Antikörper) syndrome and to DSP function in the heart and skin was identified.
There is higher incidence of Myocarditis in DSP mutation carriers affected by Arrhythmogenic right ventricular dysplasia.
Case Reports: desmoplakin mutations associated with variable woolly hair or hypotrichosis, palmoplantar keratoderma, and cardiac manifestations.
Genetic testing revealed a novel combination of two heterozygous mutations in the DSP gene encoding desmoplakin
Case Report: PKP2 (zeige PKP2 Antikörper)/DSP mutations in patient with Brugada syndrome and ventricular tachycardia.
Desmosomes are intercellular junctions that tightly link adjacent cells. Desmoplakin is an obligate component of functional desmosomes that anchors intermediate filaments to desmosomal plaques. The N-terminus of desmoplakin is required for localization to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus of desmoplakin binds with intermediate filaments. In the mid-region of desmoplakin, a coiled-coiled rod domain is responsible for homodimerization. Mutations in this gene are the cause of several cardiomyopathies and keratodermas as well as the autoimmune disease paraneoplastic pemphigus.
, putative desmoplakin
, ORF112 DESMOPLAKIN
, 250/210 kDa paraneoplastic pemphigus antigen
, desmoplakin I
, desmoplakin II
, desmoplakin I/II
, desmosomal cytoskeletal connector molecule
, desmoplakin-related protein