Disease Modifiers in Genetic Cardiomyopathies
Disease Modifiers in Genetic Cardiomyopathies
Research Topics uitklapper, klik om te openen
CURE-PLaN consortium: disease modifiers in genetic cardiomyopathies (PLN gene)
Double-Dose consortium: disease modifiers in genetic cardiomyopathies (MYBPC3, MYH7, PLN and TTN genes)
Cardiomyopathy genetic screening (patient/family/clinician perspective)
Multi-species personalized cardiogenetics:
https://eenvandaag.avrotros.nl/item/goed-voor-mens-en-dier-onderzoek-naar-heupafwijkingen-tumoren-en-hartproblemen-bij-rashonden-helpt-mensen-met-erfelijke-ziektes/
Key Publications
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy. Feyen DAM, Perea-Gil I, Maas RGC, Harakalova M, Gavidia AA, Arthur Ataam J, Wu TH, Vink A, Pei J, Vadgama N, Suurmeijer AJ, Te Rijdt WP, Vu M, Amatya PL, Prado M, Zhang Y, Dunkenberger L, Sluijter JPG, Sallam K, Asselbergs FW, Mercola M, Karakikes I.Circulation. 2021 Aug 3;144(5):382-392. doi: 10.1161/CIRCULATIONAHA.120.049844. Epub 2021 Apr 30.PMID: 33928785
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations. Pei J, Schuldt M, Nagyova E, Gu Z, El Bouhaddani S, Yiangou L, Jansen M, Calis JJA, Dorsch LM, Blok CS, van den Dungen NAM, Lansu N, Boukens BJ, Efimov IR, Michels M, Verhaar MC, de Weger R, Vink A, van Steenbeek FG, Baas AF, Davis RP, Uh HW, Kuster DWD, Cheng C, Mokry M, van der Velden J, Asselbergs FW, Harakalova M.Clin Epigenetics. 2021 Mar 23;13(1):61. doi: 10.1186/s13148-021-01043-3.PMID: 33757590
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23. Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, Charron P.Eur Heart J. 2021 May 21;42(20):2000-2011. doi: 10.1093/eurheartj/ehab030.PMID: 33677556
H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts. Pei J, Harakalova M, Treibel TA, Lumbers RT, Boukens BJ, Efimov IR, van Dinter JT, González A, López B, El Azzouzi H, van den Dungen N, van Dijk CGM, Krebber MM, den Ruijter HM, Pasterkamp G, Duncker DJ, Nieuwenhuis EES, de Weger R, Huibers MM, Vink A, Moore JH, Moon JC, Verhaar MC, Kararigas G, Mokry M, Asselbergs FW, Cheng C.Clin Epigenetics. 2020 Jul 14;12(1):106. doi: 10.1186/s13148-020-00895-5.PMID: 32664951
UNRAVEL: big data analytics research data platform to improve care of patients with cardiomyopathies using routine electronic health records and standardised biobanking. Sammani A, Jansen M, Linschoten M, Bagheri A, de Jonge N, Kirkels H, van Laake LW, Vink A, van Tintelen JP, Dooijes D, Te Riele ASJM, Harakalova M, Baas AF, Asselbergs FW. Neth Heart J. 2019 Sep;27(9):426-434. doi: 10.1007/s12471-019-1288-4. PMID: 31134468
Facilities uitklapper, klik om te openen
UNRAVEL
People Involved uitklapper, klik om te openen
Contact uitklapper, klik om te openen
Magdalena Harakalova m.harakalova@umcutrecht.nl
Frank van Steenbeek f.g.vansteenbeek@uu.nl