-
Desmocollin-2 genetic variant contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
-
PKP3 overexpression increases the stability of other desmosomal proteins independently of the increase in DSC2 levels and regulates desmosome formation and stability by a multimodal mechanism affecting transcription, protein stability and cell border localization of desmosomal proteins.
-
The cardiac specific DSC2 transgenic mice develop severe biventricular cardiomyopathy.
-
A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified in a Chinese family with arrhythmogenic right ventricular cardiomyopathy.
-
Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2).
-
Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression in human umbilical vein endothelial cells.
-
DSC2 promoter methylation is associated with Breast Cancer.
-
Homozygous founder mutation in DSC2 gene identified among Italian arrhythmogenic cardiomyopathy probands, providing evidence of the occurrence of recessive DSC2 mutations presenting with biventricular forms of the disease.
-
Desmocollin-2 mutations are described for dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, as well. Desmocollin-2 mutation was described in a case of arrhythmogenic biventricular cardiomyopathy
-
a novel Nrf2-miR-29-Dsc2 axis controls desmosome function and cutaneous homeostasis
-
ECG reliably identifies homozygous p.Gln554X desmocollin-2 carriers and may be useful as an initial step in the screening of high-risk Hutterites.
-
DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cellcell attachment and cytoskeleton rearrangement
-
Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling.
-
Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases.
-
Case of arrhythmogenic right ventricular cardiomyopathy with a previously unreported desmocollin-2 mutation (c.712_714delGAT). This genetic variant displays autosomal recessive inheritance without the cutaneous manifestations.
-
Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with Arrhythmogenic right ventricular Dysplasia/cardiomyopathy, independent of underlying mutations.
-
A homozygous truncation mutation, c.1660C>T (p.Q554X) in desmocollin-2 (DSC2) was idnetified in affected individuals and determined a carrier frequency of this mutation of 9.4% among 1535 Schmiedeleut Hutterites.
-
results suggest that abnormal activation of beta-catenin contributes to adenomyosis development through the induction of epithelial-mesenchymal transition
-
High expression of desmocollin 1 (DSC1) was observed in 41.6%, DSC2 in 58.0%, DSC3 in 61.4%, E-cadherin in 71.4%, CDX2 in 58.0%, PITX1 in 55.0%, CDK4 in 0.2%, TLE1 in 1.3%, Factor H in 42.5%, and MDM2 in 0.2% of colorectal carcinomas.
-
DSC2 is a useful immunohistochemical marker for separation of Urothelial carcinoma with squamous differentiation from pure Urothelial carcinoma
