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

Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.

Human genomics - 29 Oct 2024

Dong Rui, Zhou Xin, Zhang Haiyan, Shi Bingyi, Liu Guohua, Liu Yi

Abstract excerpt

BACKGROUND: FLNC gene variants have predominantly been reported in adult populations with cardiomyopathies, and early-onset cases are less common. The genotype-phenotype relationship indicates that dilated cardiomyopathy (DCM) is often associated with FLNC truncating variants. METHODS: We conducted a comprehensive genetic analysis using next generation sequencing (NGS) to identify FLNC variants in patients with...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Cardiomyopathy, Dilated
Share to Connectin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Filamins

Share to Genetic Association Studies

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 39472949
DOI: 10.1186/s40246-024-00683-9
PMCID: PMC11520881

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.PMID 39472949Read ↗

Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patientsSemantic proximity Read ↗

A mutation update for the FLNC gene in myopathies and cardiomyopathies.Semantic proximity Read ↗

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.Semantic proximity Read ↗

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.Semantic proximity Read ↗

Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.Semantic proximity Read ↗

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingSemantic proximity Read ↗

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.Semantic proximity Read ↗

Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.Semantic proximity Read ↗

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.Semantic proximity Read ↗

Next-generation sequencing to identify genetic causes of cardiomyopathies.Semantic proximity Read ↗

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.Semantic proximity Read ↗

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlationsSemantic proximity Read ↗

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