Associated Papers
Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECG.
de Villiers C et al.
Heart Rhythm, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Arrhythmic Risk Stratification of Carriers of Filamin C Truncating Variants.
Gigli M et al.
Jama Cardiology, 2025
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Sellung D et al.
Cells, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A et al.
Orphanet Journal of Rare Diseases, 2022
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S et al.
Heart Failure Reviews, 2022
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
Generation of iPSC line (FAMRCi009-A) from patient with familial progressive cardiac conduction disorder carrying genetic variant FLNC p.Val2264Met.
Rodina N et al.
Stem Cell Research, 2022
Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.
van Wijk SW et al.
Cells, 2022
Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl.
Kumar V et al.
Journal of Genetics, 2022
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ et al.
Human Mutation, 2020
Structure and Function of Filamin C in the Muscle Z-Disc.
Mao Z et al.
International Journal of Molecular Sciences, 2020
Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.
Xiao F et al.
Translational Pediatrics, 2020
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F et al.
Clinical Genetics, 2019
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.
Roldán-Sevilla A et al.
Circulation. Genomic and Precision Medicine, 2019
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
Schubert J et al.
Human Mutation, 2018
[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].
Ader F et al.
Medecine Sciences : M/s, 2018
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev A et al.
Human Mutation, 2018
Letter by Ma et al Regarding Article, "Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy".
Ma Y et al.
Circulation. Genomic and Precision Medicine, 2018
Response by Ma et al to Letter Regarding Article, "Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy".
Tucker NR et al.
Circulation. Genomic and Precision Medicine, 2018
Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.
Tucker NR et al.
Circulation. Cardiovascular Genetics, 2017