Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy-Reference-Cited by-同舟云学术

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Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy

Published:2019-01 Issue:1 Volume:12 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ: Genomic and Precision Medicine

Author:

Singer Emma S.¹,Ingles Jodie¹²³,Semsarian Christopher¹²³,Bagnall Richard D.¹²

Affiliation:

1. Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Australia (E.S.S., J.I., C.S., R.D.B.).

2. Faculty of Medicine and Health, The University of Sydney, Australia (J.I., C.S., R.D.B.).

3. Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.S.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference22 articles.

1. New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

2. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

3. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy

4. Hypertrophic Cardiomyopathy

5. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Cited by 31 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. Functional analysis of a new splicing mutation in the <em>MYBPC3</em> gene in hypertrophic cardiomyopathy;Bulletin of Siberian Medicine;2024-07-11

2. MYBPC3-c.772G>A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy;Journal of Molecular and Cellular Cardiology;2024-06

3. Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation;Human Cell;2024-05-18

4. Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G>A mutation;2024-03-19

5. The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death;npj Genomic Medicine;2023-10-11

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