Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function
about
Sheldon-Hall syndromeGain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisArthrogryposis: a review and updateResearch priorities in sarcomeric cardiomyopathiesPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusAbnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathyTroponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) miceMutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patientsTNNI1, TNNI2 and TNNI3: Evolution, regulation, and protein structure-function relationships.Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.Measurement of calcium dissociation rates from troponin C in rigor skeletal myofibrils.The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleTranscriptional Profiling Identifies Location-Specific and Breed-Specific Differentially Expressed Genes in Embryonic Myogenesis in Anas Platyrhynchos.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Cardiac muscle activation blunted by a mutation to the regulatory component, troponin TMolecular dynamics studies on troponin (TnI-TnT-TnC) complexes: insight into the regulation of muscle contraction.TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Myosin binding protein-C: an essential protein in skeletal and cardiac muscle.Sarcomere Dysfunction in Nemaline Myopathy.Ca++-sensitizing mutations in troponin, P(i), and 2-deoxyATP alter the depressive effect of acidosis on regulated thin-filament velocity.Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development.Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies.Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene.Tropomyosin in the groove? Molecular insights into an inherited myopathy
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P2860
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function
description
2007 nî lūn-bûn
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2007 թուականի Մարտին հրատարակուած գիտական յօդուած
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2007 թվականի մարտին հրատարակված գիտական հոդված
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2007年の論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年論文
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2007年论文
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name
Mutations in fast skeletal tro ...... increase contractile function
@ast
Mutations in fast skeletal tro ...... increase contractile function
@en
Mutations in fast skeletal tro ...... increase contractile function
@en-gb
Mutations in fast skeletal tro ...... increase contractile function
@nl
type
label
Mutations in fast skeletal tro ...... increase contractile function
@ast
Mutations in fast skeletal tro ...... increase contractile function
@en
Mutations in fast skeletal tro ...... increase contractile function
@en-gb
Mutations in fast skeletal tro ...... increase contractile function
@nl
prefLabel
Mutations in fast skeletal tro ...... increase contractile function
@ast
Mutations in fast skeletal tro ...... increase contractile function
@en
Mutations in fast skeletal tro ...... increase contractile function
@en-gb
Mutations in fast skeletal tro ...... increase contractile function
@nl
P2093
P921
P3181
P356
P1433
P1476
Mutations in fast skeletal tro ...... increase contractile function
@en
P2093
Charles S Redwood
Christopher C Ashley
Elissa Altin
Laura C Preston
Paul Robinson
Simon Lipscomb
P304
P3181
P356
10.1096/FJ.06-6899COM
P407
P577
2007-03-01T00:00:00Z