Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
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Axial myopathy: an overlooked feature of muscle diseases.Myofibrillar myopathies: new developments.A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).Fhl1 W122S causes loss of protein function and late-onset mild myopathy.Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneReducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies.Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathX-linked FHL1 as a novel therapeutic target for head and neck squamous cell carcinoma.Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.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.The interactome of LIM domain proteins: the contributions of LIM domain proteins to heart failure and heart development.Key role of ERK1/2 molecular scaffolds in heart pathology.Diagnosis of muscle diseases presenting with early respiratory failure.The sarcomeric M-region: a molecular command center for diverse cellular processes.Overview of the Muscle Cytoskeleton.Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy.Src-mediated phosphorylation converts FHL1 from tumor suppressor to tumor promoter.Role of zebrafish fhl1A in satellite cell and skeletal muscle development.FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.Muscle MRI in pediatrics: clinical, pathological and genetic correlation.Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
P2860
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P2860
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on April 2011
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
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name
Four and a half LIM protein 1 ...... cal and pathological features.
@en
Four and a half LIM protein 1 ...... cal and pathological features.
@nl
type
label
Four and a half LIM protein 1 ...... cal and pathological features.
@en
Four and a half LIM protein 1 ...... cal and pathological features.
@nl
prefLabel
Four and a half LIM protein 1 ...... cal and pathological features.
@en
Four and a half LIM protein 1 ...... cal and pathological features.
@nl
P50
P1476
Four and a half LIM protein 1 ...... ical and pathological features
@en
P2093
Brendan R Wilding
Colleen E D'Arcy
P304
P356
10.1016/J.NMD.2011.01.001
P577
2011-04-01T00:00:00Z