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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations
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BMC NEUROLOGY (2019)
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
Chiara Gemelli et al.
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Non-syndromic Mitral Valve Dysplasia Mutation Changes the Force Resilience and Interaction of Human Filamin A
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STRUCTURE (2019)
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy Growing Evidence
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CIRCULATION-GENOMIC AND PRECISION MEDICINE (2019)
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family
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BMC NEUROLOGY (2018)
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family
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HUMAN MUTATION (2018)
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy
Jeffrey Schubert et al.
HUMAN MUTATION (2018)
Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy
Yu-Tong Zhang et al.
CHINESE MEDICAL JOURNAL (2018)
Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy
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MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
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CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures
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JACC-CLINICAL ELECTROPHYSIOLOGY (2018)
Letter by Ma et al Regarding Article, Novel Mutation in FLNC (Fliamin C) Causes Familial Restrictive Cardiomypathy
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CIRCULATION-GENOMIC AND PRECISION MEDICINE (2018)
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MOLECULAR & CELLULAR PROTEOMICS (2017)
Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice
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JOURNAL OF CLINICAL INVESTIGATION (2017)
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MECHANISMS OF DEVELOPMENT (2017)
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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NATURE GENETICS (2017)
Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC
Fleur J. A. van den Bogaart et al.
NEUROMUSCULAR DISORDERS (2017)
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Daniela Rossi et al.
PLOS ONE (2017)
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CIRCULATION-CARDIOVASCULAR GENETICS (2017)
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CIRCULATION-CARDIOVASCULAR GENETICS (2017)
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CIRCULATION-CARDIOVASCULAR GENETICS (2017)
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CLINICAL GENETICS (2017)
Ectopic overexpression of filamin C scaffolds MEK1/2 and ERK1/2 to promote the progression of human hepatocellular carcinoma
Baicai Yang et al.
CANCER LETTERS (2017)
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CARDIOVASCULAR JOURNAL OF AFRICA (2016)
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C
Eyal Reinstein et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage
Yvonne Leber et al.
HUMAN MOLECULAR GENETICS (2016)
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency
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HUMAN MOLECULAR GENETICS (2016)
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
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HUMAN MUTATION (2016)
HSPB7 interacts with dimerized FLNC and its absence results in progressive myopathy in skeletal muscles
Liang-Yi Juo et al.
JOURNAL OF CELL SCIENCE (2016)
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
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JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
Targeted next-generation sequencing assay for detection of mutations in primary myopathies
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NEUROMUSCULAR DISORDERS (2016)
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REVUE NEUROLOGIQUE (2016)
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SCIENTIFIC REPORTS (2016)
Lessons learned from the Pediatric Cardiomyopathy Registry (PCMR) Study Group
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CARDIOLOGY IN THE YOUNG (2015)
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HUMAN MOLECULAR GENETICS (2015)
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing
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NEUROMUSCULAR DISORDERS (2015)
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Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy
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CIRCULATION-CARDIOVASCULAR GENETICS (2014)
Genome-wide screening for DNA variants associated with reading and language traits
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GENES BRAIN AND BEHAVIOR (2014)
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JOURNAL OF BIOLOGICAL CHEMISTRY (2014)
Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance
Sibylle Molt et al.
JOURNAL OF CELL SCIENCE (2014)
In Silico Modeling of Human α2C-Adrenoreceptor Interaction with Filamin-2
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PLOS ONE (2014)
Small-Angle X-Ray Scattering Reveals Compact Domain-Domain Interactions in the N-Terminal Region of Filamin C
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PLOS ONE (2014)
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Rafael Valdes-Mas et al.
NATURE COMMUNICATIONS (2014)
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GENOME BIOLOGY (2014)
Filamin C-related myopathies: pathology and mechanisms
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ACTA NEUROPATHOLOGICA (2013)
Domain-Domain Interactions in Filamin A (16-23) Impose a Hierarchy of Unfolding Forces
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BIOPHYSICAL JOURNAL (2013)
A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients
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MOLECULAR & CELLULAR PROTEOMICS (2013)
Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling
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MOLECULAR BIOLOGY OF THE CELL (2013)
Mechanical perturbation of filamin A immunoglobulin repeats 20-21 reveals potential non-equilibrium mechanochemical partner binding function
Hu Chen et al.
SCIENTIFIC REPORTS (2013)
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ANNUAL REVIEW OF BIOPHYSICS, VOL 41 (2012)
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
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BRAIN (2012)
F-Box and Leucine-Rich Repeat Protein 22 Is a Cardiac-Enriched F-Box Protein That Regulates Sarcomeric Protein Turnover and Is Essential for Maintenance of Contractile Function In Vivo
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Electron Microscopy and 3D Reconstruction Reveals Filamin Ig Domain Binding to F-Actin
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JOURNAL OF MOLECULAR BIOLOGY (2012)
Model of a Six Immunoglobulin-Like Domain Fragment of Filamin A (16-21) Built Using Residual Dipolar Couplings
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NOVEL FLNC MUTATION IN A PATIENT WITH MYOFIBRILLAR MYOPATHY IN COMBINATION WITH LATE-ONSET CEREBELLAR ATAXIA
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MUSCLE & NERVE (2012)
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
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Novel interactions of ankyrins-G at the costameres: The muscle-specific Obscurin/Titin-Binding-related Domain (OTBD) binds plectin and filamin C
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EXPERIMENTAL CELL RESEARCH (2011)
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JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (2011)
Mechanical strain in actin networks regulates FilGAP and integrin binding to filamin A
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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
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CELL ADHESION & MIGRATION (2011)
Filamin associates with stress signalling kinases MKK7 and MKK4 and regulates JNK activation
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BIOCHEMICAL JOURNAL (2010)
Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance
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EUROPEAN JOURNAL OF CELL BIOLOGY (2010)
Identification of a Z-band associated protein complex involving KY, FLNC and IGFN1
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EXPERIMENTAL CELL RESEARCH (2010)
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MOLECULAR BIOLOGY AND EVOLUTION (2010)
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
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NEUROMUSCULAR DISORDERS (2010)
Mutation in BAG3 Causes Severe Dominant Childhood Muscular Dystrophy
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ANNALS OF NEUROLOGY (2009)
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
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EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Migfilin, a Molecular Switch in Regulation of Integrin Activation
Sujay Subbayya Ithychanda et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling
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JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY (2009)
Molecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A Mutations
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PLOS ONE (2009)
Filamins Regulate Cell Spreading and Initiation of Cell Migration
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PLOS ONE (2009)
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Structural basis of filamin A functions
Fumihiko Nakamura et al.
JOURNAL OF CELL BIOLOGY (2007)
Clinical and morphological phenotype of the filamin myopathy:: a study of 31 German patients
Rudolf A. Kley et al.
BRAIN (2007)
Identification of CAP as a costameric protein that interacts with filamin C
Mei Zhang et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
Structure of three tandem filamin domains reveals auto-inhibition of ligand binding
Yatish Lad et al.
EMBO JOURNAL (2007)
The pathomechanism of filaminopathy:: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy
Thomas Loewe et al.
HUMAN MOLECULAR GENETICS (2007)
Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development
Xianghua Zhou et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy
Florence Kyndt et al.
CIRCULATION (2007)
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis
Yuanyi Feng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins
Siegfried Labeit et al.
JOURNAL OF MOLECULAR BIOLOGY (2006)
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure
I. Dalkilic et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP
Peter F. M. van der Ven et al.
EXPERIMENTAL CELL RESEARCH (2006)
The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins
A Bosch-Comas et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2006)
Calpain 1-gamma filamin interaction in muscle cells: A possible in situ regulation by PKC-alpha (vol 37, pg 404, 2006)
F Raynaud et al.
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2006)
Ca2+ and calmodulin regulate the binding of filamin A to actin filaments
F Nakamura et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins
Y Gontier et al.
JOURNAL OF CELL SCIENCE (2005)
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy
M Vorgerd et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
An alliance between Ras GTPase-activating protein, filamin C, and Ras GTPase-activating protein SH3 domain-binding protein regulates myocyte growth
J Lypowy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
G protein-coupled receptor kinase regulates dopamine D3 receptor signaling by modulating the stability of a receptor-filamin-β-arrestin complex -: A case of autoreceptor regulation
KM Kim et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mutations in ZASP define a novel form of muscular dystrophy in humans
D Selcen et al.
ANNALS OF NEUROLOGY (2005)
Evidence for myofibril remodeling as opposed to myofibril damage in human muscles with DOMS: an ultrastructural and immunoelectron microscopic study
JG Yu et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2004)
Identification of filamin C as a new, physiological substrate of PKBα using KESTREL
JT Murray et al.
BIOCHEMICAL JOURNAL (2004)
Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres
J Beatham et al.
HUMAN MOLECULAR GENETICS (2004)
Calpain 3 cleaves filamin C and regulates its ability to interact with γ- and δ-sarcoglycans
JR Guyon et al.
MUSCLE & NERVE (2003)
The F-actin cross-linking and focal adhesion protein filamin A is a ligand and in vivo substrate for protein kinase Cα
U Tigges et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
New N-RAP-binding partners α-actinin, filamin and Krp1 detected by yeast two-hybrid screening:: implications for myofibril assembly
SJ Lu et al.
JOURNAL OF CELL SCIENCE (2003)
The mode of myofibril remodelling in human skeletal muscle affected by DOMS induced by eccentric contractions
JG Yu et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2003)
Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation
YZ Tu et al.
CELL (2003)
The limits of promiscuity:: Isoform-specific dimerization of filamins
M Himmel et al.
BIOCHEMISTRY (2003)
LL5β is a phosphatidylinositol (3,4,5)-trisphosphate sensor that can bind the cytoskeletal adaptor, γ-filamin
V Paranavitane et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact
VL Sheen et al.
HUMAN MOLECULAR GENETICS (2002)
Calponin homology domains at a glance
E Korenbaum et al.
JOURNAL OF CELL SCIENCE (2002)
Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins
N Frey et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin β subunits
A van der Flier et al.
JOURNAL OF CELL BIOLOGY (2002)
The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin
JM Dyson et al.
JOURNAL OF CELL BIOLOGY (2001)
Myozenin:: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines
F Takada et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Filamins as integrators of cell mechanics and signalling
TP Stossel et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle
G Faulkner et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
C Chakarova et al.
HUMAN GENETICS (2000)
Indications for a novel muscular dystrophy pathway:: γ-filamin, the muscle-specific filamin isoform, interacts with myotilin
PFM van der Ven et al.
JOURNAL OF CELL BIOLOGY (2000)
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
TG Thompson et al.
JOURNAL OF CELL BIOLOGY (2000)
Myotilin is mutated in limb girdle muscular dystrophy 1A
MA Hauser et al.
HUMAN MOLECULAR GENETICS (2000)