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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: molgaard h. 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: molgaard h. 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
Abnormal Coronary Flow Velocity Reserve and Decreased Myocardial Contractile Reserve Are Main Factors in Relation to Physical Exercise Capacity in Cardiac Amyloidosis.
Clemmensen TS, Eiskjær H, Mølgaard H, Larsen AH, Soerensen J, Andersen NF, Tolbod LP, Harms HJ, Poulsen SH. Clemmensen TS, et al. Among authors: molgaard h. J Am Soc Echocardiogr. 2018 Jan;31(1):71-78. doi: 10.1016/j.echo.2017.09.007. Epub 2017 Oct 27. J Am Soc Echocardiogr. 2018. PMID: 29111120
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
Al-Saaidi RA, Rasmussen TB, Birkler RID, Palmfeldt J, Beqqali A, Pinto YM, Nissen PH, Baandrup U, Mølgaard H, Hey TM, Eiskjaer H, Bross P, Mogensen J. Al-Saaidi RA, et al. Among authors: molgaard h. Eur J Heart Fail. 2018 Oct;20(10):1404-1412. doi: 10.1002/ejhf.1241. Epub 2018 Jun 26. Eur J Heart Fail. 2018. PMID: 29943882 Free article.
130 results