Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy - Wikidata - wikimedia - TriplyDB

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

http://www.wikidata.org/entity/Q28252989

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Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy Proteomic analysis of mesenchymal stem cells from normal and deep carious dental pulp.Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Sarcomere Dysfunction in Nemaline Myopathy.Uncovering the embryonic development-related proteome and metabolome signatures in breast muscle and intramuscular fat of fast-and slow-growing chickens Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.Effects of exercise training on excitation-contraction coupling and related mRNA expression in hearts of Goto-Kakizaki type 2 diabetic rats.Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene.Tropomyosin isoform expression and phosphorylation in the human heart in health and disease.Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.Molecular Genetics of Nemaline Myopathy

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P2860

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

http://www.wikidata.org/entity/Q28252989

description

2012 nî lūn-bûn

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2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2012年の論文

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2012年論文

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2012年論文

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Abnormal actin binding of aber ...... ated nemaline and cap myopathy

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Carina Wallgren-Pettersson

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Elina Lemola

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Massimiliano Memo

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Steven Marston

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William Wallefeld

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P2860

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

Vertebrate tropomyosin: distribution, properties and function

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

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231-9

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scholarly article

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3336156

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10.1042/BJ20111030

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1

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442

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Minttu Marttila

Mikaela Grönholm

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2012-02-15T00:00:00Z

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22084935

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