Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. Desmoglein-2 is highly expressed in epithelial cells and cardiomyocytes. Desmoglein-2 is localized to desmosome structures at regions of cell-cell contact and functions to structurally adhere adjacent cells together. In cardiac muscle, these regions are specialized regions known as intercalated discs. Mutations i… WebNov 21, 2024 · Gene-set enrichment analyses of genes within osteoarthritis-associated loci To gain insight to the overall etiological role of genetic variation in osteoarthritis, we …

Desmoglein-2 mutations in arrhythmogenic right ventricular ...

WebWe identified DSG2 as a novel disease gene involved in ARVC, a genetically determined myocardial disease recognized as a common cause of sudden death among young … WebNine DSG2 mutations have been identified in 8 (5 males and 3 females; mean age at diagnosis/symptom onset, 38±20 years; range, 11 to 63 years) of 80 ARVC index cases (10%). Overall, DSP, PKP2, TGFβ3, and DSG2 … just say no to big brother\u0027s smart meters

GJA1-20k Rescues Cx43 Localization and Arrhythmias in …

WebMar 29, 2024 · Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on … WebDesmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease Mutations in DSG2 display a high degree of penetrance. Disease expression was of variable severity … To assess if Dsg2 cleavage can be mediated by another mechanism, which activates the extrinsic apoptotic pathway, a time-course experiment was performed using TNF-α related apoptosis-inducing ligand (TRAIL). TRAIL activates the TNF receptor family members death receptor 4 and death receptor 5 (DR4 and … See more Pro-inflammatory cytokines released into the epithelial milieu during inflammation influence cellular homeostasis and barrier function1. We have … See more To further determine the role of caspases in mediating Dsg2 cleavage, T-84 model IECs were incubated with TNF-α and IFN-γ in the presence and absence of the pan-caspase inhibitor, Z … See more To determine if Dsg2 ICF generation sensitizes IECs to apoptosis, we exogenously expressed the Dsg2 ICF in SKCO15 model IECs by transduction with an adenovirus … See more just say no what\u0027s so hard about that