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Article

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.

PloS one - 1 Jan 2015

Marston Steven, Montgiraud Cecile, Munster Alex B, Copeland O'Neal, Choi Onjee, Dos Remedios Cristobal, Messer Andrew E, Ehler Elisabeth, Knöll Ralph

Abstract excerpt

BACKGROUND: Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart muscle samples from 30 patients that had a diagnosis of familial dilated cardiomyopathy and screened for potentially...

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Topics

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Share to Cardiomyopathy, Dilated
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Association Studies

Share to Haploinsufficiency

Share to Myocardium

Share to Protein Serine-Threonine Kinases

Share to Rho Guanine Nucleotide Exchange Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 26406308
DOI: 10.1371/journal.pone.0138568
PMCID: PMC4583186

Genes

OBSCN
DSP
GLA
LAMA4
MYH7
MYOM1
PKP2
TCAP
TNNC1
TNNI3
TTN
VCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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