DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of gamma-catenin and PTEN/PI3K/AKT signaling pathway. | DSC2 suppresses the growth of gastric cancer through the inhibition of nuclear translocation of γ-catenin and PTEN/PI3K/AKT signaling pathway. Sun C, Wen K, Zhang B, Dong Y, Chen C, Neo SY, Leng B, Gao TT, Wu J., Free PMC Article | 08/3/2023 |
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation. | Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation. Lin Y, Huang J, Zhu Z, Zhang Z, Xian J, Yang Z, Qin T, Chen L, Huang J, Huang Y, Wu Q, Hu Z, Lin X, Xu G., Free PMC Article | 03/19/2022 |
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. | Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. Moreau A, Reisqs JB, Delanoe-Ayari H, Pierre M, Janin A, Deliniere A, Bessière F, Meli AC, Charrabi A, Lafont E, Valla C, Bauer D, Morel E, Gache V, Millat G, Nissan X, Faucherre A, Jopling C, Richard S, Mejat A, Chevalier P., Free PMC Article | 01/15/2022 |
Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2. | Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2. Raya-Sandino A, Luissint AC, Kusters DHM, Narayanan V, Flemming S, Garcia-Hernandez V, Godsel LM, Green KJ, Hagen SJ, Conway DE, Parkos CA, Nusrat A., Free PMC Article | 09/18/2021 |
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. | A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy. Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. | 05/29/2021 |
Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration. | Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration. Flemming S, Luissint AC, Kusters DHM, Raya-Sandino A, Fan S, Zhou DW, Hasegawa M, Garcia-Hernandez V, García AJ, Parkos CA, Nusrat A., Free PMC Article | 01/23/2021 |
Mutation in the DSC2 gene is associated with nevus of Ota with choroidal melanoma. | Clinical and genetic characteristics of nevus of Ota with choroidal melanoma in Chinese. Pan X, Zheng S. | 05/16/2020 |
Colocalization analysis using cell compartment trackers revealed that N-glycosylation- deficient DSC2 mutants were retained within the Golgi apparatus. In contrast, elimination of the four O-mannosylation sites or the disulfide bridges in the ECD has no obvious effect on the intracellular protein processing of DSC2. | Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites. Brodehl A, Stanasiuk C, Anselmetti D, Gummert J, Milting H., Free PMC Article | 11/16/2019 |
Desmocollin-2 genetic variant contributes to Arrhythmogenic Right Ventricular Cardiomyopathy | Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy. Christensen AH, Schmitz B, Andersen CB, Bundgaard H, Brand SM, Svendsen JH. | 09/22/2018 |
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. | Plakophilin3 increases desmosome assembly, size and stability by increasing expression of desmocollin2. Gurjar M, Raychaudhuri K, Mahadik S, Reddy D, Atak A, Shetty T, Rao K, Karkhanis MS, Gosavi P, Sehgal L, Gupta S, Dalal SN. | 12/30/2017 |
The cardiac specific DSC2 transgenic mice develop severe biventricular cardiomyopathy. | Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling. Brodehl A, Belke DD, Garnett L, Martens K, Abdelfatah N, Rodriguez M, Diao C, Chen YX, Gordon PM, Nygren A, Gerull B., Free PMC Article | 06/6/2017 |
A novel missense mutation (c.1090 G > A/p.V364 M) of DSC2 was identified in a Chinese family with arrhythmogenic right ventricular cardiomyopathy. | Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy. Liu JS, Fan LL, Li JJ, Xiang R. | 04/29/2017 |
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). | Desmocollin-2 alone forms functional desmosomal plaques, with the plaque formation requiring the juxtamembrane region and plakophilins. Fujiwara M, Nagatomo A, Tsuda M, Obata S, Sakuma T, Yamamoto T, Suzuki ST. | 07/2/2016 |
Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression in human umbilical vein endothelial cells. | Oxidized low-density lipoprotein attenuated desmoglein 1 and desmocollin 2 expression via LOX-1/Ca(2+)/PKC-β signal in human umbilical vein endothelial cells. Li YB, Zhang QH, Chen Z, He ZJ, Yi GH. | 03/19/2016 |
DSC2 promoter methylation is associated with Breast Cancer. | Racial variation in breast tumor promoter methylation in the Carolina Breast Cancer Study. Conway K, Edmiston SN, Tse CK, Bryant C, Kuan PF, Hair BY, Parrish EA, May R, Swift-Scanlan T., Free PMC Article | 02/27/2016 |
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. | Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy. Lorenzon A, Pilichou K, Rigato I, Vazza G, De Bortoli M, Calore M, Occhi G, Carturan E, Lazzarini E, Cason M, Mazzotti E, Poloni G, Mostacciuolo ML, Daliento L, Thiene G, Corrado D, Basso C, Bauce B, Rampazzo A. | 01/2/2016 |
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 | Genetic screening for the detection of a rare form of cardiomyopathy in a young patient with recurrent syncopes. Peters S. | 12/19/2015 |
a novel Nrf2-miR-29-Dsc2 axis controls desmosome function and cutaneous homeostasis | A novel Nrf2-miR-29-desmocollin-2 axis regulates desmosome function in keratinocytes. Kurinna S, Schäfer M, Ostano P, Karouzakis E, Chiorino G, Bloch W, Bachmann A, Gay S, Garrod D, Lefort K, Dotto GP, Beer HD, Werner S. | 12/19/2015 |
ECG reliably identifies homozygous p.Gln554X desmocollin-2 carriers and may be useful as an initial step in the screening of high-risk Hutterites. | Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. Wong JA, Duff HJ, Yuen T, Kolman L, Exner DV, Weeks SG, Gerull B., Free PMC Article | 10/17/2015 |
DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cellcell attachment and cytoskeleton rearrangement | Desmocollin‑2 affects the adhesive strength and cytoskeletal arrangement in esophageal squamous cell carcinoma cells. Fang WK, Liao LD, Zeng FM, Zhang PX, Wu JY, Shen J, Xu LY, Li EM., Free PMC Article | 06/20/2015 |
Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling. | Loss of the desmosomal cadherin desmoglein-2 suppresses colon cancer cell proliferation through EGFR signaling. Kamekura R, Kolegraff KN, Nava P, Hilgarth RS, Feng M, Parkos CA, Nusrat A., Free PMC Article | 11/8/2014 |
Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases. | The influence of desmocollin 1-3 expression on prognosis after curative resection of colorectal liver metastases. Schüle S, Neuhäuser C, Rauchfuß F, Knösel T, Settmacher U, Altendorf-Hofmann A. | 10/4/2014 |
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. | Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation. Al-Sabeq B, Krahn AD, Conacher S, Klein GJ, Laksman Z. | 07/19/2014 |
Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with Arrhythmogenic right ventricular Dysplasia/cardiomyopathy, independent of underlying mutations. | Desmosomal cadherins are decreased in explanted arrhythmogenic right ventricular dysplasia/cardiomyopathy patient hearts. Vite A, Gandjbakhch E, Prost C, Fressart V, Fouret P, Neyroud N, Gary F, Donal E, Varnous S, Fontaine G, Fornes P, Hidden-Lucet F, Komajda M, Charron P, Villard E., Free PMC Article | 07/12/2014 |
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. | Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. | 04/5/2014 |