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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsMutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanismsThe UNC-45 chaperone is critical for establishing myosin-based myofibrillar organization and cardiac contractility in the Drosophila heart modelAlpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defectsA composite approach towards a complete model of the myosin rodMyosin transducer mutations differentially affect motor function, myofibril structure, and the performance of skeletal and cardiac musclesA de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigsRecessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.A Drosophila model of dominant inclusion body myopathy type 3 shows diminished myosin kinetics that reduce muscle power and yield myofibrillar defects.A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.In vivo orientation of single myosin lever arms in zebrafish skeletal muscleFSHD myotubes with different phenotypes exhibit distinct proteomes.Nemaline myopathy type 6: clinical and myopathological features.Clinical utility gene card for: Laing distal myopathy.Laing distal myopathy pathologically resembling inclusion body myositis.Structural basis for myopathic defects engendered by alterations in the myosin rodExpression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.Identification of functional differences between recombinant human α and β cardiac myosin motors.Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.Single nucleotide polymorphisms, haplotypes and combined genotypes in MYH₃ gene and their associations with growth and carcass traits in Qinchuan cattleMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.Erratum to: Identification of functional differences between recombinant human α and β cardiac myosin motors.Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutationsLower limb radiology of distal myopathy due to the S60F myotilin mutation.Identification of novel MYO18A interaction partners required for myoblast adhesion and muscle integrity.Drosophila models of cardiac disease.Myosinopathies: pathology and mechanisms.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Ventricular myosin modifies in vitro step-size when phosphorylated.The fraction of strongly bound cross-bridges is increased in mice that carry the myopathy-linked myosin heavy chain mutation MYH4L342Q.Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.Hedgehog signaling and laminin play unique and synergistic roles in muscle development.Genome engineering: a new approach to gene therapy for neuromuscular disorders.Small molecule-mediated refolding and activation of myosin motor function.Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies.Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Hereditary myosin myopathies.
@ast
Hereditary myosin myopathies.
@en
type
label
Hereditary myosin myopathies.
@ast
Hereditary myosin myopathies.
@en
prefLabel
Hereditary myosin myopathies.
@ast
Hereditary myosin myopathies.
@en
P1476
Hereditary myosin myopathies.
@en
P2093
Anders Oldfors
P304
P356
10.1016/J.NMD.2007.02.008
P577
2007-04-16T00:00:00Z