South Asian–Specific MYBPC3 Δ25bp Intronic Deletion and Its Role in Cardiomyopathies and Heart Failure
Author:
Affiliation:
1. Division of Cardiovascular Health and Disease, Department of Internal Medicine, Heart, Lung and Vascular Institute, College of Medicine, University of Cincinnati, OH. Center for Genetic Medicine, Northwestern University, Chicago, IL.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference20 articles.
1. Novel mutations in MYH7 and MYBPC3 of an Indian family causing hypertrophic cardiomyopathy
2. Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy
3. Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy
4. A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
5. Chowdry AB Mandegar MA Benton GM Naughton BT Conklin BR. Population Sampling and in vitro Modeling of a 25bp Deletion in MYBPC3 Associated With Hypertrophic Cardiomyopathy. 23andMe Inc. 2012 Available at: https://blog.23andme.com/wp-content/uploads/2012/11/HCM-ASHG-TTAM.pdf. Accessed March 26 2020.
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1. Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy;Genes;2023-03-06
2. Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy;International Journal of Molecular Sciences;2022-12-13
3. South Asian-Specific MYBPC3Δ25bp Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress;Frontiers in Cardiovascular Medicine;2021-12-23
4. Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ25bp/D389V;International Journal of Molecular Sciences;2021-11-04
5. Association of South Asian-specific MYBPC3Δ deletion polymorphism and cardiomyopathy: A systematic review and meta-analysis;Meta Gene;2021-06
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