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 identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

PloS one - 1 Jan 2013

Campbell Nzali, Sinagra Gianfranco, Jones Kenneth L, Slavov Dobromir, Gowan Katherine, Merlo Marco, Carniel Elisa, Fain Pamela R, Aragona Pierluigi, Di Lenarda Andrea, Mestroni Luisa, Taylor Matthew R G

Abstract excerpt

Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 ge...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Aged, 80 and over
Share to Algorithms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Computational Biology

Share to Haplotypes

Share to Troponin T

Source

Open in PubMed Open full text

Identifiers

PMID: 24205113
DOI: 10.1371/journal.pone.0078104
PMCID: PMC3812167

Genes

TNNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24205113-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.PMID 24205113Read ↗

Genetic Insights from Consanguineous Cardiomyopathy Families.Semantic proximity Read ↗

Novel combination of TTN and CTNNA3 Pathogenic variant leading to Familial Dilated Cardiomyopathy: From acute heart failure to subclinical phenotypes.Semantic proximity Read ↗

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated CardiomyopathySemantic proximity Read ↗

Role of Titin Missense Variants in Dilated Cardiomyopathy.Semantic proximity Read ↗

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.Semantic proximity Read ↗

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated CardiomyopathySemantic proximity Read ↗

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.Semantic proximity Read ↗

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.Semantic proximity Read ↗

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.Semantic proximity Read ↗

Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.Semantic proximity Read ↗

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.Semantic proximity Read ↗

Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients.Semantic proximity Read ↗

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