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

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

BioMed research international - 1 Jan 2015

Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Shan

Abstract excerpt

As a common cardiac disease mainly caused by gene mutations in sarcomeric cytoskeletal, calcium-handling, nuclear envelope, desmosomal, and transcription factor genes, inherited cardiomyopathy is becoming one of the major etiological factors of sudden cardiac death (SCD) and heart failure (HF). This disease is characterized by remarkable genetic heterogeneity, which makes it difficult to screen for pathogenic...

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 Cardiomyopathy, Dilated

Share to High-Throughput Nucleotide Sequencing

Share to Lamin Type A

Share to Myosin Heavy Chains

Share to Troponin I

Share to Ultrasonography

Source

Open in PubMed Open full text

Identifiers

PMID: 26199943
DOI: 10.1155/2015/561819
PMCID: PMC4495182

Genes

LMNA
MYH7
SCD
TNNI3

Variants

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

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.PMID 26199943Read ↗

Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.Semantic proximity Read ↗

Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy.Semantic proximity Read ↗

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy.Semantic proximity Read ↗

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.Semantic proximity Read ↗

Next-Generation Sequencing Screening Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese PatientsSemantic proximity Read ↗

Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population.Semantic proximity Read ↗

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

Mechanisms of pathogenicity in the hypertrophic cardiomyopathy-associated TNNI3 c.235C > T variant.Semantic proximity Read ↗

Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional studySemantic proximity Read ↗

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine.Semantic proximity Read ↗

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