Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
about
Alpha-cardiac actin mutations produce atrial septal defectsCongenital myopathies: an updateAssociation of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyRecessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndromeA rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesisSevere myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3The pathogenesis of ACTA1-related congenital fiber type disproportion.Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Dynamic regulation of sarcomeric actin filaments in striated muscleMutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Changing a limb muscle growth program into a resorption programDiagnostic immunohistochemistry in neuromuscular disorders.Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.Designing heart performance by gene transfer.Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.Chaperones and the Proteasome System: Regulating the Construction and Demolition of Striated Muscle.Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).Actin-related myopathy without any missense mutation in the ACTA1 gene.Absence of the Drosophila jump muscle actin Act79B is compensated by up-regulation of Act88F.Molecular Genetics of Nemaline MyopathyHypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy
P2860
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P2860
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
description
2001 nî lūn-bûn
@nan
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
name
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene
@nl
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@ast
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en-gb
type
label
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene
@nl
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@ast
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en-gb
prefLabel
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene
@nl
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@ast
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en-gb
P2093
P2860
P356
P1476
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
@en
P2093
Collins KJ
Durling HJ
Hardeman EC
Ilkovski B
Kornberg AJ
P2860
P304
P356
10.1086/320605
P407
P577
2001-04-27T00:00:00Z