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anti-Human Desmoplakin Anticorps:
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Human Polyclonal Desmoplakin Primary Antibody pour ICC, IHC - ABIN1867641
Kippenberger, Kleemann, Meissner, Steinhorst, Müller, Zouboulis, Kaufmann, Zöller: Activation of PKB/Akt and p44/42 by mechanical stretch utilizes desmosomal structures and the keratin filament. dans Journal of dermatological science 2018
Human Polyclonal Desmoplakin Primary Antibody pour ELISA, IHC - ABIN4305054
Barahona-Dussault, Benito, Campuzano, Iglesias, Leung, Robb, Talajic, Brugada: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. dans Clinical genetics 2010
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.
For arrhythmogenic right ventricular cardiomyopathy patients, both missense and non-missense desmoplakin mutations carry a high arrhythmic risk.
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.
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.
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.
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
Double heterozygotes for mutations in DSP and MYBPC3 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) 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.
novel de novo heterozygous missense mutation caused severe dermatitis, multiple allergies, and metabolic wasting syndrome
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/DSP mutations in patient with Brugada syndrome and ventricular tachycardia.
Patients whose MPM tissues expressed elevated mRNA levels of BIRC5, DSP, NME2, and THBS2 showed a statistically significant shorter overall survival.
GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.
our data indicate that DP phosphorylation at S2849 represents an important mechanism in pemphigus pathogenesis
Deletion of Dsp under the transcriptional regulation of the CSPG4 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
These data indicate a function of desmoplakin in motor nerve regeneration by linking N-cadherin to intermediate filaments in regenerating motor axons.
A loss of desmoplakin expression led to an abnormal distribution of Cx43 and Nav1.5, 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 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
desmocollins show a higher degree of similarity to the classical cadherins, such as E-cadherin, than to the desmogleins.
Data show suppression of desmoplakin expression leads to nuclear localization of plakoglobin and a 2-fold reduction in canonical Wnt/beta-catenin signaling through Tcf/Lef1 transcription factors.
DSP expression in cardiomyocytes is crucial for maintaining cardiac tissue integrity, and DSP abnormalities result in ARVD/C by cardiomyocyte death, changes in lipid metabolism, and defects in cardiac development.
Results demonstrate a differentiation-specific rearrangement of the microtubule cytoskeleton in epidermis, and defines an essential role for desmoplakin in the process.
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.
250/210 kDa paraneoplastic pemphigus antigen
, desmoplakin I
, desmoplakin II
, putative desmoplakin
, desmoplakin I/II
, desmosomal cytoskeletal connector molecule
, ORF112 DESMOPLAKIN
, desmoplakin-related protein