South Asian–Specific MYBPC3 Δ25bp Intronic Deletion and Its Role in Cardiomyopathies and Heart Failure-Reference-Cited by-同舟云学术

South Asian–Specific MYBPC3 Δ25bp Intronic Deletion and Its Role in Cardiomyopathies and Heart Failure

Published:2020-06 Issue:3 Volume:13 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Sadayappan Sakthivel¹^ORCID,Puckelwartz Megan J.¹^ORCID,McNally Elizabeth M.¹

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.

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India;Indian Heart Journal;2024-07

2. Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy;Genes;2023-03-06

3. Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy;International Journal of Molecular Sciences;2022-12-13

4. South Asian-Specific MYBPC3Δ25bp Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress;Frontiers in Cardiovascular Medicine;2021-12-23

5. 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