Single-cell transcriptomics provides insights into hypertrophic cardiomyopathy

Autor: Martijn Wehrens, Anne E. de Leeuw, Maya Wright-Clark, Joep E.C. Eding, Cornelis J. Boogerd, Bas Molenaar, Petra H. van der Kraak, Diederik W.D. Kuster, Jolanda van der Velden, Michelle Michels, Aryan Vink, Eva van Rooij

Publikováno v: Cell Reports, 39(6). Cell Press
Cell Reports, 39(6):110809. Cell Press
Wehrens, M, de Leeuw, A E, Wright-Clark, M, Eding, J E C, Boogerd, C J, Molenaar, B, van der Kraak, P H, Kuster, D W D, van der Velden, J, Michels, M, Vink, A & van Rooij, E 2022, ' Single-cell transcriptomics provides insights into hypertrophic cardiomyopathy ', Cell Reports, vol. 39, no. 6, 110809 . https://doi.org/10.1016/j.celrep.2022.110809

Hypertrophic cardiomyopathy (HCM) is a genetic heart disease that is characterized by unexplained segmental hypertrophy that is usually most pronounced in the septum. While sarcomeric gene mutations are often the genetic basis for HCM, the mechanisti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f075b3620a94a6d61c3751ad132e989
https://pure.knaw.nl/portal/en/publications/78b14421-b0e9-4720-963d-1de6f43fc415

The «Amish» NM_000256.3:c.3330+2TG splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation

Autor: Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga

Publikováno v: European journal of medical genetics, vol. 65, no. 12, pp. 104627

MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faddc27f63e5edb9bbde46ab4b0fbfeb
https://pubmed.ncbi.nlm.nih.gov/36162733

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

Autor: Antonio de Marvao, Roddy Walsh, Jean-Claude Tardif, R. Thomas Lumbers, Eric Villard, Rafik Tadros, Peter Lichtner, Catherine Francis, Julie Amyot, Michelle Michels, Hugh Watkins, Julia Cadrin-Tourigny, Najim Lahrouchi, Rudolf A. de Boer, Patrick Garceau, Karin J. H. Verweij, Paul M. Matthews, Paul Elliott, S. Matthijs Boekholdt, Folkert W. Asselbergs, Declan P. O'Regan, Benjamin Meder, Joost A. Offerhaus, Nicola Whiffin, Jacco C. Karper, Jason D. Roberts, Marie-Pierre Dubé, Hideaki Suzuki, James S. Ware, Yigal M. Pinto, Thomas Meitinger, Guillaume Lettre, Hannah G. van Velzen, Arthur A.M. Wilde, Marjon van Slegtenhorst, Francesco Mazzarotto, Wouter P. te Rijdt, Paul J.R. Barton, Sanjay K Prasad, A. John Baksi, Michael W.T. Tanck, Mario Talajic, Roy Huurman, J. Peter van Tintelen, Connie R. Bezzina, Antonis Pantazis, Robert A. Hegele, Jentien M Vermeulen, Rachel Buchan, Imke Christiaans, Jan H. Veldink, Edgar T. Hoorntje, Elham Kayvanpour, Pascale Richard, Geneviève Giraldeau, Flavie Ader, Andrew Thain, Philippe L. L’Allier, Xiao Xu, Leander Beekman, David McCarty, Alexa M.C. Vermeer, Geraldine Sloane, Wenjia Bai, Andrew R. Harper, Jolanda van der Velden, Stuart A. Cook, Ken Kelu Bisabu, Philippe Charron, Deborah Schneider-Luftman

Publikováno v: Nature genetics, 53(2), 128-134. Nature Publishing Group
Nature genetics
Tadros, R, Francis, C, Xu, X, Vermeer, A M C, Harper, A R, Huurman, R, Kelu Bisabu, K, Walsh, R, Hoorntje, E T, te Rijdt, W P, Buchan, R J, van Velzen, H G, van Slegtenhorst, M A, Vermeulen, J M, Offerhaus, J A, Bai, W, de Marvao, A, Lahrouchi, N, Beekman, L, Karper, J C, Veldink, J H, Kayvanpour, E, Pantazis, A, Baksi, A J, Whiffin, N, Mazzarotto, F, Sloane, G, Suzuki, H, Schneider-Luftman, D, Elliott, P, Richard, P, Ader, F, Villard, E, Lichtner, P, Meitinger, T, Tanck, M W T, van Tintelen, J P, Thain, A, McCarty, D, Hegele, R A, Roberts, J D, Amyot, J, Dubé, M-P, Cadrin-Tourigny, J, Giraldeau, G, l’Allier, P L, Garceau, P, Tardif, J-C, Boekholdt, S M, Lumbers, R T, Asselbergs, F W, Barton, P J R, Cook, S A, Prasad, S K, O’Regan, D P, van der Velden, J, Verweij, K J H, Talajic, M, Lettre, G, Pinto, Y M, Meder, B, Charron, P, de Boer, R A, Christiaans, I, Michels, M, Wilde, A A M, Watkins, H, Matthews, P M, Ware, J S & Bezzina, C R 2021, ' Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect ', Nature Genetics, vol. 53, no. 2, pp. 128-134 . https://doi.org/10.1038/s41588-020-00762-2
Nature Genetics, 53(2), 128-134. Nature Publishing Group

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf7d23d192dff67828c4afc329009e0f
https://ora.ox.ac.uk/objects/uuid:c3ba02f5-a29f-4145-a8b8-d3e86d5db3f0

Hypertrophic Cardiomyopathy: A Review

Autor: Silméia Garcia Zanati Bazan, Fabrício Moreira Reis, Lucas Santos Nielsen Tinasi, Katashi Okoshi, Karina Nogueira Dias Secco Malagutte, Gilberto Ornellas de Oliveira, Rodrigo Bazan, Caroline Ferreira da Silva Mazeto Pupo da Silveira, João Carlos Hueb

Publikováno v: Arquivos Brasileiros de Cardiologia, Volume: 115, Issue: 5, Pages: 927-935, Published: 07 DEC 2020
Arquivos Brasileiros de Cardiologia v.115 n.5 2020
Arquivos Brasileiros de Cardiologia
Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
Arquivos Brasileiros de Cardiologia, Vol 115, Iss 5, Pp 927-935 (2020)

Resumo A cardiomiopatia hipertrófica (CMH) é a doença cardíaca de origem genética mais comum, cuja principal característica consiste na hipertrofia ventricular esquerda que acontece na ausência de outras patologias que desencadeiam tal altera�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4846c079c4020ca682a90bcd9391408e
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2020001300927&lng=en&tlng=en

Measurement of myofilament-localised calcium dynamics in adult cardiomyocytes and the effect of hypertrophic cardiomyopathy mutations

Autor: Sparrow, Alexander J., Sievert, Kolja, Patel, Suketu, Chang, Yu-Fen, Broyles, Connor N., Brook, Frances A., Watkins, Hugh, Geeves, Michael A., Redwood, Charles S., Robinson, Paul, Daniels, Matthew J.

Publikováno v: Sparrow, A J, Sievert, K, Patel, S, Chang, Y-F, Broyles, C N, Brook, F A, Watkins, H, Geeves, M A, Redwood, C S, Robinson, P & Daniels, M J 2019, ' Measurement of Myofilament-Localized Calcium Dynamics in Adult Cardiomyocytes and the Effect of Hypertrophic Cardiomyopathy Mutations ', Circulation research, vol. 124, no. 8, pp. 1228-1239 . https://doi.org/10.1161/CIRCRESAHA.118.314600
Circulation Research

Supplemental Digital Content is available in the text.
Rationale: Subcellular Ca2+ indicators have yet to be developed for the myofilament where disease mutation or small molecules may alter contractility through myofilament Ca2+ sensitivity. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bb2cdb168311d0f1d00954f2ca205e7a
http://ora.ox.ac.uk/objects/uuid: