Evidence map›Paper›PMID 39315490›Full record

ArticleCytoskeleton (Hoboken, N.J.)2025

Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.

E S Klimenko, A K Zaytseva, M Yu Sorokina, K I Perepelina, N L Rodina, E G Nikitina, K S Sukhareva, A A Khudiakov, T L Vershinina, A S Muravyev and 4 more

Erratum issuedAbstract read
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In one paragraph

Article in Cytoskeleton (Hoboken, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

E S KlimenkoAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
A K ZaytsevaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
M Yu SorokinaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
K I PerepelinaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
N L RodinaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
E G NikitinaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
K S SukharevaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
A A KhudiakovAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
T L VershininaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
A S MuravyevAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
E N MikhaylovAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
T M PervuninaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
E S VasichkinaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.
A A KostarevaAlmazov National Medical Research Centre, Institute of Molecular Biology and Genetics, Saint-Petersburg, Russia.

Funding

The present work was supported by Russian Science Foundation grant number 20-15-00271П
6 · The paper itself

Abstract

Filamin С is a key an actin-binding protein of muscle cells playing a critical role in maintaining structural integrity and sarcomere organization. FLNC mutations contribute to various types of cardiomyopathies and myopathies through potentially different molecular mechanisms. Here, we described the impact of two clinically distinct FLNC variants (R1267Q associated with arrhythmogenic cardiomyopathy and V2264M associated with restrictive cardiomyopathy) on calcium homeostasis, electrophysiology, and gene expression profile of iPSC-derived patient-specific cardiomyocytes. We demonstrated that R1267Q FLNC variant leads to greater disturbances in calcium dynamics, Nav1.5 kinetics and action potentials compared to V2264M variant. These functional characteristics were accompanied by transcriptome changes in genes linked to action potential and sodium transport as well as structural cardiomyocyte genes. We suggest distinct molecular effects of two FLNC variants linked to different types of cardiomyopathies in terms of myofilament structure, electrophysiology, ion channel function and intracellular calcium homeostasis providing the molecular the bases for their different clinical phenotypes.

Indexed as

CardiomyopathiesFilaminsMutationAction PotentialsCalciumHumansMyocytes, CardiacNAV1.5 Voltage-Gated Sodium ChannelPhenotypeCalciumFilaminsFLNC protein, humanNAV1.5 Voltage-Gated Sodium ChannelcardiomyocytecardiomyopathyelectrophysiologyfilaminiPSCtranscriptome

Identifiers

PMID39315490
PMCPMC11904857

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.