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Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Rasmussen TB, Palmfeldt J, Nissen PH, Magnoni R, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J. Rasmussen TB, et al. Among authors: kim wy. Hum Mutat. 2013 May;34(5):697-705. doi: 10.1002/humu.22289. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23381804
Cardiac magnetic resonance and electroanatomical mapping of acute and chronic atrial ablation injury: a histological validation study.
Harrison JL, Jensen HK, Peel SA, Chiribiri A, Grøndal AK, Bloch LØ, Pedersen SF, Bentzon JF, Kolbitsch C, Karim R, Williams SE, Linton NW, Rhode KS, Gill J, Cooklin M, Rinaldi CA, Wright M, Kim WY, Schaeffter T, Razavi RS, O'Neill MD. Harrison JL, et al. Among authors: kim wy. Eur Heart J. 2014 Jun 7;35(22):1486-95. doi: 10.1093/eurheartj/eht560. Epub 2014 Jan 12. Eur Heart J. 2014. PMID: 24419806 Free PMC article.
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.
Rasmussen TB, Nissen PH, Palmfeldt J, Gehmlich K, Dalager S, Jensen UB, Kim WY, Heickendorff L, Mølgaard H, Jensen HK, Baandrup UT, Bross P, Mogensen J. Rasmussen TB, et al. Among authors: kim wy. Circ Cardiovasc Genet. 2014 Jun;7(3):230-40. doi: 10.1161/CIRCGENETICS.113.000338. Epub 2014 Apr 4. Circ Cardiovasc Genet. 2014. PMID: 24704780
1,454 results