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

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

Journal of molecular and cellular cardiology - 1 Feb 2005

Doolan Alessandra, Tebo Molly, Ingles Jodie, Nguyen Lan, Tsoutsman Tatiana, Lam Lien, Chiu Christine, Chung Jessica, Weintraub Robert G, Semsarian Christopher

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins. Cardiac troponin I (cTnI) is a key switch molecule in the sarcomere. Mutations in cTnI have been identified in <1% of genotyped HCM families. METHODS: To study the prevalence, clinical significance and functional consequences of cTnI mutations, genetic testing was performed in 120...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Australia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic

Share to Pedigree

Share to Protein Binding

Share to Sequence Alignment

Share to Troponin C

Share to Troponin I

Source

Identifiers

PMID: 15698845
DOI: 10.1016/j.yjmcc.2004.12.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.PMID 15698845Read ↗

A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.Semantic proximity Read ↗

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.Semantic proximity Read ↗

Molecular and Cellular Aspects of Troponin CardiomyopathiesSemantic proximity Read ↗

Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injury.Semantic proximity Read ↗

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Homozygous Mutation in Cardiac Troponin TSemantic proximity Read ↗

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.Semantic proximity Read ↗

Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: Insights into disease pathogenesis and troponin functionSemantic proximity Read ↗

Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.Semantic proximity Read ↗

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.Semantic proximity Read ↗

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