Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
about
Evidence for the mechanosensor function of filamin in tissue development.Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.Loss of MT1-MMP causes cell senescence and nuclear defects which can be reversed by retinoic acidExome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.Mapping arginine methylation in the human body and cardiac disease.Genetics of hypertrophic cardiomyopathy: A review of current state.Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.FLNC Gene Splice Mutations Cause Dilated CardiomyopathyFilamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.Filamin actin-binding and titin-binding fulfill distinct functions in Z-disc cohesion.Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.Analysis of Pelagia noctiluca proteome Reveals a Red Fluorescent Protein, a Zinc Metalloproteinase and a Peroxiredoxin.Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC.Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.Hspb7 is a cardioprotective chaperone facilitating sarcomeric proteostasis.Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.Myofibrillar instability exacerbated by acute exercise in filaminopathy.Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies
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P2860
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
description
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
article publié dans Nature Communications
@fr
artículu científicu espublizáu en 2014
@ast
im Oktober 2014 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2014/10/29)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/10/29)
@nl
наукова стаття, опублікована в жовтні 2014
@uk
name
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@ast
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@en
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@nl
type
label
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@ast
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@en
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@nl
prefLabel
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@ast
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@en
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
@en
P2093
Diana A Puente
Diego León
Eliecer Coto
Juan Gómez
Julián R Reguero
María Martín
Rafael Valdés-Mas
Victoria Álvarez
Xose S Puente
P2860
P2888
P3181
P356
10.1038/NCOMMS6326
P407
P577
2014-10-29T00:00:00Z
P6179
1047672251