Results 11 to 20 of about 9,138 (204)

Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies

Pharmacogenomics and Personalized Medicine, 2023
Deepa Selvi Rani,1 Apoorva Kasala,1 Perundurai S Dhandapany,2 Uthiralingam Muthusami,3 Sreejith Kunnoth,3 Andiappan Rathinavel,4 Dharma Rakshak Ayapati,5 Kumarasamy Thangaraj1,6 1Department of Population and Medical Genomics, CSIR-Centre for Cellular and
Rani DS, Kasala A, Dhandapany PS, Muthusami U, Kunnoth S, Rathinavel A, Ayapati DR, Thangaraj K   +7 more
doaj   +3 more sources

MYBPC3 D389V Variant Induces Hypercontractility in Cardiac Organoids

Cells
MYBPC3, encoding cardiac myosin binding protein-C (cMyBP-C), is the most mutated gene known to cause hypertrophic cardiomyopathy (HCM). However, since little is known about the underlying etiology, additional in vitro studies are crucial to defining the ...
Darshini Desai, Taejeong Song, Rohit R. Singh, Akhil Baby, James McNamara, Lisa C. Green, Pooneh Nabavizadeh, Mark Ericksen, Sholeh Bazrafshan, Sankar Natesan, Sakthivel Sadayappan   +10 more
doaj   +4 more sources

Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy [PDF]

Journal of Biological Chemistry, 2021
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3 variants found in patients remains unknown, as a consequence of our incomplete understanding of the ...
Carmen Suay-Corredera, Maria Rosaria Pricolo, Elías Herrero-Galán, Diana Velázquez-Carreras, David Sánchez-Ortiz, Diego García-Giustiniani, Javier Delgado, Juan José Galano-Frutos, Helena García-Cebollada, Silvia Vilches, Fernando Domínguez, María Sabater Molina, Roberto Barriales-Villa, Giulia Frisso, Javier Sancho, Luis Serrano, Pablo García-Pavía, Lorenzo Monserrat, Jorge Alegre-Cebollada   +18 more
openaire   +10 more sources

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin [PDF]

Science Translational Medicine, 2019
Mutations in MYBPC3 disrupt myosin states of relaxation, and manipulating myosin therapeutically abates the effects of MYBPC3 mutations.
Toepfer, C, Wakimoto, H, Garfinkel, A, McDonough, B, Liao, D, Jiang, J, Tai, A, Gorham, J, Lunde, I, Lun, M, Lynch, T, McNamara, J, Sadayappan, S, Redwood, C, Watkins, H, Seidman, J, Seidman, C   +16 more
openaire   +2 more sources

Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients. [PDF]

PLoS ONE, 2011
RATIONALE: Mutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies. An intronic 25-bp deletion in MYBPC3 at 3' region is associated with dilated (DCM) and hypertrophic (HCM) cardiomyopathies
Anshika Srivastava, Naveen Garg, Tulika Mittal, Roopali Khanna, Shipra Gupta, Prahlad Kishore Seth, Balraj Mittal   +6 more
doaj   +1 more source

Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males

Open Heart, 2021
Objective One of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the pathogenicity of genetic variants and to establish genotype/phenotype correlations.
Raquel Yotti, Francisco Fernández-Avilés, Javier Bermejo, Ana Isabel Fernandez, Cristina Gómez, Constancio Medrano, Irene Méndez, Maria Ángeles Espinosa, Sofía Cuenca, Rebeca Lorca, José Fernando Rodríguez, Maria Tamargo, Marta García-Montero, Silvia Vilches, Nélida Vázquez, Reyes Álvarez   +15 more
doaj   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

ALU transposition induces familial hypertrophic cardiomyopathy

Molecular Genetics & Genomic Medicine, 2020
Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, most of
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova   +16 more
doaj   +1 more source

The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)

Российский кардиологический журнал, 2020
The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene.
R. P. Myasnikov, A. V. Kulikova, A. N. Meshkov, E. A. Mershina, A. V. Kiseleva, M. V. Klimushina, M. G. Divashuk, O. V. Kurilova, P. S. Pilyus, M. S. Kharlap, S. N. Koretsky, O. M. Larina, V. E. Sinitsyn, L. A. Gandaeva, V. I. Barsky, E. N. Basargina, S. A. Boytsov, O. M. Drapkina   +17 more
doaj   +1 more source