Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
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The diversification of the LIM superclass at the base of the metazoa increased subcellular complexity and promoted multicellular specializationSkeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesEmery-Dreifuss muscular dystrophy: a test case for precision medicine.The nuclear envelope LEM-domain protein emerinDysferlin-peptides reallocate mutated dysferlin thereby restoring functionMuscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organizationFHL1 protein isoforms in Emery-Dreifuss muscular dystrophyReport on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.O-Linked β-N-acetylglucosamine (O-GlcNAc) regulates emerin binding to barrier to autointegration factor (BAF) in a chromatin- and lamin B-enriched "niche".Myofibrillar myopathies: new developments.A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GeneFour and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells.Identification of an FHL1 protein complex containing gamma-actin and non-muscle myosin IIB by analysis of protein-protein interactions.Sulforaphane enhances progerin clearance in Hutchinson-Gilford progeria fibroblasts.FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).Fhl1 W122S causes loss of protein function and late-onset mild myopathy.Nesprins: tissue-specific expression of epsilon and other short isoforms.From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Emerin in health and disease.Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneReducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Ce-emerin and LEM-2: essential roles in Caenorhabditis elegans development, muscle function, and mitosis.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies.A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyZYX-1, the unique zyxin protein of Caenorhabditis elegans, is involved in dystrophin-dependent muscle degenerationExome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathThe cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Myofibrillar myopathies.Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.Nuclear positioning in muscle development and disease.Increasing Role of Titin Mutations in Neuromuscular Disorders.199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.
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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 August 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@en
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@nl
type
label
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@en
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@nl
prefLabel
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@en
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@nl
P2093
P2860
P50
P1476
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
@en
P2093
Annie Verschueren
Bruno Eymard
Emmanuelle Lacene
Jean-Philippe Jais
Lucie Gueneau
Manfred Wehnert
Maud Beuvin
Norma B Romero
Simon Heath
Simone Spuler
P2860
P304
P356
10.1016/J.AJHG.2009.07.015
P407
P50
P577
2009-08-27T00:00:00Z