Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
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Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers.Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-OgnaNeuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the LiteratureA novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Genomic medicine and neurological disease.Current status of the congenital myasthenic syndromes.Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesPlectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateThe Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Costamere proteins and their involvement in myopathic processes.Mitochondrial abnormalities in the myofibrillar myopathies.One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Pitfall of identifying a disease locus by using low-resolution SNP arrays.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse.A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.
P2860
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P2860
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
description
2010 nî lūn-bûn
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2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
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2010年论文
@wuu
name
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@ast
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en-gb
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@nl
type
label
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@ast
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en-gb
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@nl
prefLabel
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@ast
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en-gb
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@nl
P2093
P2860
P3181
P1476
Mutation in exon 1f of PLEC, l ...... limb-girdle muscular dystrophy
@en
P2093
Beril Talim
Burcu Balci-Hayta
Hulya Gundesli
Nurten A Akarsu
Pervin Dincer
Petek Korkusuz
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.10.017
P407
P577
2010-12-10T00:00:00Z