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

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.

Genes - 21 Aug 2021

Ramzan Shafaq, Tennstedt Stephanie, Tariq Muhammad, Khan Sheraz, Noor Ul Ayan Hafiza, Ali Aamir, Munz Matthias, Thiele Holger, Korejo Asad Aslam, Mughal Abdul Razzaq, Jamal Syed Zahid, Nürnberg Peter, Baig Shahid Mahmood, Erdmann Jeanette, Ahmad Ilyas

Abstract excerpt

Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in most cases, it disrupts the synchronous activity of impulse-generating nodes and impulse-conduction underlying the normal heartbeat. In this study, we investigated a...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac Conduction System Disease
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Mutation, Missense

Share to Pakistan

Share to Protein Interaction Domains and Motifs

Share to Protein Serine-Threonine Kinases

Share to Troponin I

Source

Open in PubMed Open full text

Identifiers

PMID: 34440456
DOI: 10.3390/genes12081282
PMCID: PMC8395014

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

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.PMID 34440456Read ↗

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

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease and dilated cardiomyopathySemantic proximity Read ↗

[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy].Semantic proximity Read ↗

Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population.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 ↗

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).Semantic proximity Read ↗

Atomic-Level Investigation of <i>KCNJ2</i> Mutations Associated with Ventricular Arrhythmic Syndrome PhenotypesSemantic proximity Read ↗

A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family.Semantic proximity Read ↗

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

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.Semantic proximity Read ↗

Secondary structure transitions and dual PIP2 binding define cardiac KCNQ1-KCNE1 channel gatingSemantic proximity Read ↗

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.Semantic proximity Read ↗

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