However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be elucidated. Methods In this study, FLNC gene was sequenced in 540 HCM patients and 307 healthy controls. Results We found that 39 (7.2%) patients carried FLNC mutations, with a ...
Define FLNC. FLNC synonyms, FLNC pronunciation, FLNC translation, English dictionary definition of FLNC. Noun 1. FLNC - a terrorist group formed in 1976 to work for Corsican independence; attacks on Corsica are aimed at sabotaging public infrastructure a
FLNC mutation, hypertrophic cardiomyopathy, penetrance, prognosisBackgroundFilamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be ...
Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias ...
We found a novel splice-site mutation in FLNC gene (c.2389+1G>A) which cosegregated with all symptomatic individuals in the family. Computational prediction software tools as well as RT-PCR method were used to evaluate the impact of the FLNC splice site mutation. This substitution leads to ...
Affected patients are reported to demonstrate a high incidence of arrhythmic and heart-failure related cardiovascular events. The aim of this study was to determine factors that predict adverse events in mutation carriers.The study cohort comprised 168 FLNCtv carriers followed at 19 European centres....
First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNCcongenital myopathyFilamin CFLNCmyofibrillar myopathyproteomic signaturerecessive inheritanceFilamin C (encoded by the FLNC gene) is a large actinヽross﹍inking protein involved in ...
Gene ontology (GO) enrichment analysis was performed using ToppFun.#Results:3X-Flag insertion was confirmed using genomic sequencing. AP-MS identified 281 high confidence interactors of mutant FLNC and 208 interactors of wild type FLNC (FDR 0.01, log2FC >1.5) when compared to IgG controls. ...
Direct sequencing of the FLNC gene revealed a heterozygous p.Y1216N change, in a highly conserved amino acid of the protein and co-segregating with the disease. Western blot analysis showed reduced expression for Filamin C but normal lamin A/C expression. This is the third reported mutation ...