Zobrazeno 1 - 10
of 58
pro vyhledávání: '"J P Van Tintelen"'
Autor:
Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F. Ernst, Dennis Dooijes, Hanneke W. M. van Deutekom, J. Peter van Tintelen, Christian J. B. Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W. Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber, DoGA consortium, Juha Kere, W. Glen Pyle, Jonas Donner, Alex V. Postma, Tosso Leeb, Göran Andersson, Marjo K. Hytönen, Jens Häggström, Maria Wiberg, Jana Friederich, Jenny Eberhard, Magdalena Harakalova, Frank G. van Steenbeek, Gerhard Wess, Hannes Lohi
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-21 (2023)
Abstract Background Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiolog
Externí odkaz:
https://doaj.org/article/49a1dbcf15a6421cbf422ecc2a464ea9
Autor:
Shirley M. Lo-A-Njoe, Eline A. Verberne, Lars T. van der Veken, Eric Arends, J. Peter van Tintelen, Alex V. Postma, Mieke M. van Haelst
Publikováno v:
Cardiogenetics, Vol 13, Iss 3, Pp 106-112 (2023)
Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with a largely unknown etiology. We present a 6-year-old girl with Ebstein anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who ha
Externí odkaz:
https://doaj.org/article/b48491215f304c5baaefdf1e22601a93
Autor:
Lian Y. Rekker, Steven A. Muller, Alessio Gasperetti, Mimount Bourfiss, Marish I.F.J. Oerlemans, Maarten J. Cramer, Stefan L. Zimmerman, Dennis Dooijes, Hanke Schalkx, Pim van der Harst, Cynthia A. James, J. Peter van Tintelen, Marco Guglielmo, Birgitta K. Velthuis, Anneline S.J.M. te Riele
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss 2, Pp 101059- (2024)
ABSTRACT: Background: While late gadolinium enhancement (LGE) is proposed as a diagnostic criterion for arrhythmogenic right ventricular cardiomyopathy (ARVC), the potential of LGE to distinguish ARVC from differentials remains unknown. We aimed to a
Externí odkaz:
https://doaj.org/article/6c8027e8842f437fb6177ca748f9a36a
Autor:
Valentina Balducci, Francesco Scardigli, Magdalena Harakalova, J. Peter. van Tintelen, Pieter A. Doevendans, Kevin D. Costa, Irene C. Turnbull, Joost P. G. Sluijter, Francesca Stillitano
Publikováno v:
Stem Cell Research, Vol 72, Iss , Pp 103208- (2023)
The rare genetic alteration PLN-c.(40_42delAGA), leading to the deletion of arginine 14 (p.R14del) in phospholamban, is associated with dilated and arrhythmogenic cardiomyopathies occurring in early-adulthood. However, some carriers remain asymptomat
Externí odkaz:
https://doaj.org/article/388758bbc8f347e6ba63047bd7670b59
Autor:
Stephanie M. van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands ACM/PLN Registry, Robert F. Ernst, Cynthia A. James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M. Saguner, Firat Duru, Patrick T. Ellinor, Connie R. Bezzina, Sean J. Jurgens, J. Peter van Tintelen, Toon A. B. van Veen
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15931 (2023)
Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) are characterized by variable disease expression and age-related penetrance. Calcium (Ca2+) is crucially important for proper cardiac function, and dysregulation of Ca2+ homeo
Externí odkaz:
https://doaj.org/article/78c0eb4720ce4bc38ab6e64bf23f581a
Autor:
Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 4031 (2023)
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-po
Externí odkaz:
https://doaj.org/article/e223c94791014e57a9ae7b833ca8be81
Autor:
Nishka Mittal, Jaydev Dave, Magdalena Harakalova, J. Peter. van Tintelen, Folkert W. Asselbergs, Pieter A. Doevendans, Kevin D. Costa, Irene C. Turnbull, Francesca Stillitano
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102737- (2022)
The R14del pathogenic variant in the phospholamban (PLN) gene (PLN-R14del), has been identified in families with hereditary cardiomyopathy, including dilated and arrhythmogenic cardiomyopathies. Here we have generated human iPSC lines from five PLN-R
Externí odkaz:
https://doaj.org/article/42ffbf12f2cb4306961af5cb94213fa4
Autor:
Mathilde C. S. C. Vermeer, Daniela Andrei, Luisa Marsili, J. Peter van Tintelen, Herman H. W. Silljé, Maarten P. van den Berg, Peter van der Meer, Maria C. Bolling
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10765 (2022)
Genetic variants in gene-encoding proteins involved in cell–cell connecting structures, such as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which the combination is called cardiocutaneous syndrome. The cardiac phenot
Externí odkaz:
https://doaj.org/article/fff995654c4f4d3cb850ab8b35b514f5
Autor:
Karen R. Gaar-Humphreys, Talitha C. F. Spanjersberg, Giorgia Santarelli, Guy C. M. Grinwis, Viktor Szatmári, Bernard A. J. Roelen, Aryan Vink, J. Peter van Tintelen, Folkert W. Asselbergs, Hille Fieten, Magdalena Harakalova, Frank G. van Steenbeek
Publikováno v:
Animals, Vol 12, Iss 13, p 1679 (2022)
Cardiac disease is a leading cause of death for both humans and dogs. Genetic cardiomyopathies, including dilated cardiomyopathy (DCM), account for a proportion of these cases in both species. Patients may suffer from ventricular enlargement and syst
Externí odkaz:
https://doaj.org/article/9e90264b25cf431d9ccb7bdab20de139
Autor:
Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)
AIMS:Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the gene
Externí odkaz:
https://doaj.org/article/8c4c11f0bd934c179abf128780e3a5e2