Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. - Wikidata - wikimedia - TriplyDB

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

http://www.wikidata.org/entity/Q37408211

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The diversification of the LIM superclass at the base of the metazoa increased subcellular complexity and promoted multicellular specialization Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features Emery-Dreifuss muscular dystrophy: a test case for precision medicine.The nuclear envelope LEM-domain protein emerin Dysferlin-peptides reallocate mutated dysferlin thereby restoring function Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy Report 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 Gene Four 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 gene Reducing 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 cardiomyopathy ZYX-1, the unique zyxin protein of Caenorhabditis elegans, is involved in dystrophin-dependent muscle degeneration Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death The 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.

http://www.wikidata.org/entity/Q37408211

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

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

@cs

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

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J.AJHG.2009.07.015

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American Journal of Human Genetics

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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

@en

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Annie Verschueren

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Bruno Eymard

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Emmanuelle Lacene

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Jean-Philippe Jais

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Lucie Gueneau

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Manfred Wehnert

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Maud Beuvin

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Norma B Romero

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Simon Heath

http://www.w3.org/2001/XMLSchema#string

Simone Spuler

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P2860

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Four and a half LIM protein 1: a partner for KCNA5 in human atrium

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Unusual type of benign x-linked muscular dystrophy

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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338-353

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scholarly article

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10.1016/J.AJHG.2009.07.015

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3

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85

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Maria Hoeltzenbein

Mustafa A. Salih

Christine Tranchant

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2009-08-27T00:00:00Z

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26775927

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19716112

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2771595

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