Left and Right PVC-Induced Ventricular Dysfunction

Autor: Anurut Huntrakul, Adam Helms, Anil Attili, Prachi P. Agarwal, Michael Ghannam, Jackson J. Liang, Rakesh Latchamsetty, Krit Jongnarangsin, Fred Morady, Frank Bogun

Publikováno v: JACC: Clinical Electrophysiology. 9:192-199

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::705c33388dba8ed7b8d929280c259937
https://doi.org/10.1016/j.jacep.2022.09.016

CE-452775-4 LONG-TERM ARRHYTHMIC FOLLOW-UP AND PERFORMANCE OF MODERN RISK STRATIFICATION TOOLS IN LARGE COHORT OF PATIENTS WITH DESMOPLAKIN ARRHYTHMOGENIC CARDIOMYOPATHY

Autor: Alessio Gasperetti, Richard Carrick, Alexander Protonotarios, Mikael Laredo, Iris van der Schaaf, Petros Syrris, Brittney Murray, Crystal Tichnell, Chiara Cappelletto, Marta Gigli, Kristen Medo, Peter Crabtree, Ardan Saguner, Firat Duru, Robyn Hylind, Dominic J. Abrams, Neal Lakdawala, Charles Massie, Julia Cadrin-Tourigny, Mattia Targetti, Iacopo Olivotto, Maddalena Graziosi, Moniek Cox, Elena Biagini, Philippe Charron, Michela Casella, Claudio Tondo, Momina Yazdani, James S. Ware, Sanjay Prasad, Leonardo Caló, Eric D. Smith, Adam Helms, Sophie Hespe, Jodie Ingles, Harikrishna Tandri, Flavie Ader, Luisa Mestroni, Arthur A. Wilde, Marco Merlo, Estelle Gandjbakhch, Hugh Calkins, Anneline te Riele, Peter van Tintelen, Perry Elliott, Cynthia A. James

Publikováno v: Heart Rhythm. 20:S47-S48

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a903ad67d39e3b2c57654cab8b71217f
https://doi.org/10.1016/j.hrthm.2023.03.298

Probabilistic integration of transcriptome-wide association studies and colocalization analysis prioritizes molecular pathways of complex traits

Autor: Jeffrey Okamoto, Lijia Wang, Xianyong Yin, Francesca Luca, Roger Pique-Regi, Adam Helms, Hae Kyung Im, Jean Morrison, Xiaoquan Wen

Transcriptome-wide association studies (TWAS) and colocalization analysis are complementary integrative genetic association approaches routinely used to identify functional units underlying complex traits in post-genome-wide association study (post-G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2d088fa751d31f7c59f9fa0ec0f45be
https://doi.org/10.1101/2022.07.19.500651

Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

Autor: Andrew R. Harper, Michael Bowman, Jesse B.G. Hayesmoore, Helen Sage, Silvia Salatino, Edward Blair, Carolyn Campbell, Bethany Currie, Anuj Goel, Karen McGuire, Elizabeth Ormondroyd, Kate Sergeant, Adam Waring, Jessica Woodley, Christopher M. Kramer, Stefan Neubauer, Martin Farrall, Hugh Watkins, Kate L. Thomson, Theodore Abraham, Lisa Anderson, Evan Appelbaum, Camillo Autore, Colin Berry, Elena Biagini, William Bradlow, Chiara Bucciarelli-Ducci, Amedeo Chiribiri, Lubna Choudhury, Andrew Crean, Dana Dawson, Milind Y. Desai, Eleanor Elstein, Andrew Flett, Matthias Friedrich, Stephen Heitner, Adam Helms, Carolyn Ho, Daniel L. Jacoby, Han Kim, Bette Kim, Eric Larose, Masliza Mahmod, Heiko Mahrholdt, Martin Maron, Gerry McCann, Michelle Michaels, Saidi Mohiddin, Sherif Nagueh, David Newby, Iacopo Olivotto, Anjali Owens, F. Pierre-Mongeon, Sanjay Prasad, Ornella Rimoldi, Michael Salerno, Jeanette Schulz-Menger, Mark Sherrid, Peter Swoboda, Albert van Rossum, Jonathan Weinsaft, James White, Eric Williamson

Publikováno v: Circulation. Genomic and Precision Medicine
Circ Genom Precis Med

Supplemental Digital Content is available in the text.
Background: The common intronic deletion, MYBPC3Δ25, detected in 4% to 8% of South Asian populations, is reported to be associated with cardiomyopathy, with ≈7-fold increased risk of dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f720bb1e32ea9ab957d9d283e6d64c0
http://europepmc.org/articles/PMC7299222

Abstract 18826: Cardiac Myosin Binding Protein C Mutants Interact With and Cause Mislocalization of the Hsp70 Family Chaperones

Autor: Amelia A Glazier, Adam Helms, Jaime M Yob, Dattatreya Mellacheruvu, Vi Tang, Sarah Bartolone, Venkatesha Basrur, Alexey I Nesvizhskii, Sharlene Day

Publikováno v: Circulation. 132

Introduction: Myosin binding protein C (MYBPC3) is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM) and >90% of MYBPC3 mutations produce truncated proteins. Ubiquitin proteasome dysfunction has been observed in human HCM hearts w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::917a5dd2840858742bf21c77ea0a097a
https://doi.org/10.1161/circ.132.suppl_3.18826