Discover Community Create You

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

Article

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.

Gene - 1 Mar 2015

Yang Jing, Zhu Meng, Wang Yao, Hou Xiaofeng, Wu Hongping, Wang Daowu, Shen Hongbing, Hu Zhibin, Zou Jiangang

Abstract excerpt

BACKGROUND: Left ventricular noncompaction (LVNC) is a genetic cardiomyopathy results from the failure of myocardial development during embryogenesis. Previous reports show that defects in TAZ, SCN5A, TPM1, YWHAE, MYH7, ACTC1 and TNNT2 are associated with LVNC. Sequencing of individuals using family-based design is a powerful approach for hereditary disease. In this study, we used whole-exome sequencing to screen...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Cardiac Myosins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Myosin Heavy Chains

Share to Point Mutation

Share to Polymorphism, Single Nucleotide

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 25550050
DOI: 10.1016/j.gene.2014.12.061

Genes

MYH7
ACTC1
TNNT2
TPM1
YWHAE

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction.PMID 25550050Read ↗

Whole exome sequencing identifies novel candidate mutations in a Chinese family with left ventricular noncompaction.Semantic proximity Read ↗

Genetic Analysis of Patients with Left Ventricular Noncompaction: Identification of Novel Candidate VariantsSemantic proximity Read ↗

[Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7].Semantic proximity Read ↗

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.Semantic proximity Read ↗

MYH7 variants cause complex congenital heart disease.Semantic proximity Read ↗

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigreeSemantic proximity Read ↗

A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report.Semantic proximity Read ↗

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathySemantic proximity Read ↗

A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.Semantic proximity Read ↗

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree.Semantic proximity Read ↗

A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.Semantic proximity Read ↗

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center ExperienceSemantic proximity Read ↗

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