Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model

Autor: Gerard A. Marchal, Maaike van Putten, Arie O. Verkerk, Simona Casini, Kayleigh Putker, Shirley C. M. van Amersfoorth, Annemieke Aartsma-Rus, Elisabeth M. Lodder, Carol Ann Remme

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

Abstract Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD. Newly develope

Externí odkaz: https://doaj.org/article/e66d62ff25c047aab32a8e28fe2c4a19

From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity

Autor: Koen T. Scholman, Veronique M. F. Meijborg, Carolina Gálvez-Montón, Elisabeth M. Lodder, Bastiaan J. Boukens

Publikováno v: Frontiers in Physiology, Vol 11 (2020)

Genome Wide Association Studies (GWAS) have provided an enormous amount of data on genomic loci associated with cardiac electrophysiology and arrhythmias. Clinical relevance, however, remains unclear since GWAS do not provide a mechanistic explanatio

Externí odkaz: https://doaj.org/article/79998e86c9914831822569e60386f1d4

Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh)

Autor: Christiaan C. Veerman, Isabella Mengarelli, Charlotte D. Koopman, Ronald Wilders, Shirley C. van Amersfoorth, Diane Bakker, Rianne Wolswinkel, Mariam Hababa, Teun P. de Boer, Kaomei Guan, James Milnes, Elisabeth M. Lodder, Jeroen Bakkers, Arie O. Verkerk, Connie R. Bezzina

Publikováno v: Disease Models & Mechanisms, Vol 12, Iss 7 (2019)

Mutations in GNB5, encoding the G-protein β5 subunit (Gβ5), have recently been linked to a multisystem disorder that includes severe bradycardia. Here, we investigated the mechanism underlying bradycardia caused by the recessive p.S81L Gβ5 variant

Externí odkaz: https://doaj.org/article/9a0498e951bf479a8ce5b96fc11940df

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation

Autor: Christiaan C. Veerman, Isabella Mengarelli, Elisabeth M. Lodder, Georgios Kosmidis, Milena Bellin, Miao Zhang, Sven Dittmann, Kaomei Guan, Arthur A. M. Wilde, Eric Schulze‐Bahr, Boris Greber, Connie R. Bezzina, Arie O. Verkerk

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 6, Iss 7 (2017)

BackgroundHuman induced pluripotent stem cell–derived cardiomyocytes (hiPSC‐CMs) can recapitulate features of ion channel mutations causing inherited rhythm disease. However, the lack of maturity of these cells is considered a significant limitat

Externí odkaz: https://doaj.org/article/31b4d470588642f7847c23b8bd417347

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Autor: Jaël S Copier, Marianne Bootsma, Chai A Ng, Arthur A M Wilde, Robin A Bertels, Hennie Bikker, Imke Christiaans, Saskia N van der Crabben, Janna A Hol, Tamara T Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J van der Smagt, Connie R Bezzina, Jamie I Vandenberg, Arie O Verkerk, Daniela Q C M Barge-Schaapveld, Elisabeth M Lodder

Publikováno v: Human Molecular Genetics, 32(7), 1072-1082. Oxford University Press
Human molecular genetics, 32(7), 1072-1082. Oxford University Press
Copier, J S, Bootsma, M, Ng, C A, Wilde, A A M, Bertels, R A, Bikker, H, Christiaans, I, van der Crabben, S N, Hol, J A, Koopmann, T T, Knijnenburg, J, Lommerse, A A J, van der Smagt, J J, Bezzina, C R, Vandenberg, J I, Verkerk, A O, Barge-Schaapveld, D Q C M & Lodder, E M 2023, ' Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance ', Human Molecular Genetics, vol. 32, no. 7, pp. 1072-1082 . https://doi.org/10.1093/hmg/ddac261

Background: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2). We identified eight index pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519654e8bc20f7975db9d699d619b260
https://research.vumc.nl/en/publications/9b00c3f8-9873-42ac-bfb9-46f0292eee55