Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

doi:10.1001/jamacardio.2018.0618

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.

JAMA cardiology - 1 Jun 2018

Viswanathan Shiv Kumar, Puckelwartz Megan J, Mehta Ashish, Ramachandra Chrishan J A, Jagadeesan Aravindakshan, Fritsche-Danielson Regina, Bhat Ratan V, Wong Philip, Kandoi Sangeetha, Schwanekamp Jennifer A, Kuffel Gina, Pesce Lorenzo L, Zilliox Michael J, Durai U Nalla B, Verma Rama Shanker, Molokie Robert E, Suresh Domodhar P, Khoury Philip R, Thomas Annie, Sanagala Thriveni, Tang Hak Chiaw, Becker Richard C, Knöll Ralph, Shim Winston, McNally Elizabeth M, Sadayappan Sakthivel

Abstract excerpt

Importance: The genetic variant MYBPC3Δ25bp occurs in 4% of South Asian descendants, with an estimated 100 million carriers worldwide. MYBPC3 Δ25bp has been linked to cardiomyopathy and heart failure. However, the high prevalence of MYBPC3Δ25bp suggests that other stressors act in concert with MYBPC3Δ25bp. Objective: To determine whether there are additional genetic factors that contribute to the cardiomyopathic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adolescent

Share to Aged

Share to Asian

Share to Cardiomyopathy, Hypertrophic

Share to Carrier Proteins

Share to Stroke Volume

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 29641836
DOI: 10.1001/jamacardio.2018.0618
PMCID: PMC6054452

Genes

MYBPC3
TTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants.PMID 29641836Read ↗

Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic CardiomyopathySemantic proximity Read ↗

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.Semantic proximity Read ↗

Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3Δ25bp variantSemantic proximity Read ↗

<i>MYBPC3</i> D389V Variant Induces Hypercontractility in Cardiac OrganoidsSemantic proximity Read ↗

Gender- and age-related differences in distinct phenotypes of hypertrophic cardiomyopathy-associated mutation MYBPC3-E334K.Semantic proximity Read ↗

Comprehensive Genetic Study of Russian Hypertrophic Cardiomyopathy Identifies <i>MYBPC3 c.3697C>T</i> as the Predominant Variant in Pediatric and Adult CohortsSemantic proximity Read ↗

Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cardiomyopathy in Asian Cohorts: Genetic and Epigenetic InsightsSemantic proximity Read ↗

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in MYBPC3 carriers in agingSemantic proximity Read ↗

Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.Semantic proximity Read ↗

A novel MYBPC3 c.2737+1 (IVS26) G>T mutation responsible for high-risk hypertrophic cardiomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.