A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
about
The genome sequence of the colonial chordate, Botryllus schlosseriNemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyNemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathyMutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromesMyosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3Congenital myopathies: an updateApproach to the diagnosis of congenital myopathiesProtein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin TTruncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathyNemaline myopathy: a clinical study of 143 casesNemaline myopathy caused byTNNT1 mutations in a Dutch pedigreeMyofilament incorporation determines the stoichiometry of troponin I in transgenic expression and the rescue of a null mutationIdentification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order AmishAbnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathyDeletion of a genomic segment containing the cardiac troponin I gene knocks down expression of the slow troponin T gene and impairs fatigue tolerance of diaphragm muscleTargeting the sarcomere to correct muscle functionNemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Troponin T isoforms and posttranscriptional modifications: Evolution, regulation and functionDeficiency of slow skeletal muscle troponin T causes atrophy of type I slow fibres and decreases tolerance to fatigueCoupled expression of troponin T and troponin I isoforms in single skeletal muscle fibers correlates with contractility.KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathyLeiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophyBiallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyCongenital myopathies: diseases of the actin cytoskeleton.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionPedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County.Clinical heterogeneity in Korean patients with nemaline myopathy.Artificial neural network inference (ANNI): a study on gene-gene interaction for biomarkers in childhood sarcomas.Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.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 muscleNemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Troponin T is essential for sarcomere assembly in zebrafish skeletal muscle.Nebulin, a major player in muscle health and diseaseFast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency.Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.
P2860
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P2860
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
description
2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年學術文章
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name
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@ast
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en-gb
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@nl
type
label
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@ast
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en-gb
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@nl
prefLabel
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@ast
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en-gb
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@nl
P2093
P2860
P921
P3181
P356
P1476
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
@en
P2093
A A Schäffer
C A Francomano
D H Morton
J J Johnston
L G Biesecker
R Agarwala
R I Kelley
T O Crawford
P2860
P304
P3181
P356
10.1086/303089
P407
P577
2000-10-01T00:00:00Z