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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: dalager s. Hum Mutat. 2013 May;34(5):697-705. doi: 10.1002/humu.22289. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23381804
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: dalager s. 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
[Overlooked Wolff-Parkinson-White syndrome].
Nielsen TS, Dalager S, Larsen MK, Jensen HK, Lundemose JB. Nielsen TS, et al. Among authors: dalager s. Ugeskr Laeger. 2010 Sep 13;172(37):2521-2. Ugeskr Laeger. 2010. PMID: 20836960 Danish.
12 results