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The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šarić T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson K, Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D. Milting H, et al. Among authors: mogensen j. Eur Heart J. 2015 Apr 7;36(14):872-81. doi: 10.1093/eurheartj/ehu077. Epub 2014 Mar 4. Eur Heart J. 2015. PMID: 24598986
Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study.
van Rijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Pilotto A, Pasotti M, Jenkins S, Rowland C, Aslam U, Wilde AA, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Pinto YM. van Rijsingen IA, et al. Among authors: mogensen j. J Am Coll Cardiol. 2012 Jan 31;59(5):493-500. doi: 10.1016/j.jacc.2011.08.078. J Am Coll Cardiol. 2012. PMID: 22281253 Free article.
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
van Rijsingen IA, Nannenberg EA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Grasso M, Serio A, Jenkins S, Rowland C, Richard P, Wilde AA, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Christiaans I, Pinto YM. van Rijsingen IA, et al. Among authors: mogensen j. Eur J Heart Fail. 2013 Apr;15(4):376-84. doi: 10.1093/eurjhf/hfs191. Epub 2012 Nov 25. Eur J Heart Fail. 2013. PMID: 23183350 Free article.
Clinical utility gene card for: dilated cardiomyopathy (CMD).
Posafalvi A, Herkert JC, Sinke RJ, van den Berg MP, Mogensen J, Jongbloed JD, van Tintelen JP. Posafalvi A, et al. Among authors: mogensen j. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.276. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249954 Free PMC article. No abstract available.
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: mogensen j. 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: mogensen j. 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
The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics.
Mogensen J, van Tintelen JP, Fokstuen S, Elliott P, van Langen IM, Meder B, Richard P, Syrris P, Caforio AL, Adler Y, Anastasakis A, Gimeno JR, Klingel K, Linhart A, Imazio M, Pinto Y, Newbery R, Schmidtke J, Charron P. Mogensen J, et al. Eur Heart J. 2015 Jun 7;36(22):1367-70. doi: 10.1093/eurheartj/ehv122. Epub 2015 Apr 5. Eur Heart J. 2015. PMID: 25845928 Review. No abstract available.
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: mogensen j. 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.
262 results