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

Genotype-specific pathogenic effects in human dilated cardiomyopathy.

The Journal of physiology - 15 Jul 2017

Bollen Ilse A E, Schuldt Maike, Harakalova Magdalena, Vink Aryan, Asselbergs Folkert W, Pinto Jose R, Krüger Martina, Kuster Diederik W D, van der Velden Jolanda

Abstract excerpt

KEY POINTS: Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca2+ -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension. A mutation in the gene encoding Lamin A/C (LMNAp.R331Q ) led to...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Dilated
Share to Connectin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Ventricles

Share to Lamin Type A

Share to Myocytes, Cardiac

Share to Phosphorylation

Share to Troponin I

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28436080
DOI: 10.1113/JP274145
PMCID: PMC5509872

Genes

TNNI3
TNNT2

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

Genotype-specific pathogenic effects in human dilated cardiomyopathy.PMID 28436080Read ↗

Inherited cardiomyopathies caused by troponin mutations.Semantic proximity Read ↗

Molecular and Cellular Aspects of Troponin CardiomyopathiesSemantic proximity Read ↗

Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.Semantic proximity Read ↗

Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathySemantic proximity Read ↗

Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.Semantic proximity Read ↗

Inherited cardiomyopathies as a troponin disease.Semantic proximity Read ↗

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes.Semantic proximity Read ↗

Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy PhenotypeSemantic proximity Read ↗

Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.Semantic proximity Read ↗

Troponins, intrinsic disorder, and cardiomyopathy.Semantic proximity Read ↗

Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.Semantic proximity Read ↗

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.Semantic proximity Read ↗

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