RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. - Wikidata - wikimedia - TriplyDB

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

http://www.wikidata.org/entity/Q52639740

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Pathogenic mechanisms in centronuclear myopathies Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines.Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.The neuromuscular differential diagnosis of joint hypermobility.Tumor Necrosis Factor Alpha and Insulin-Like Growth Factor 1 Induced Modifications of the Gene Expression Kinetics of Differentiating Skeletal Muscle Cells.Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization.Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.β-Arrestin scaffolds and signaling elements essential for the obestatin/GPR39 system that determine the myogenic program in human myoblast cells.Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.

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RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

http://www.wikidata.org/entity/Q52639740

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

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2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@en

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@nl

type

label

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@en

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@nl

prefLabel

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@en

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@nl

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P1476

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

@en

P2093

Adnan Y Manzur

http://www.w3.org/2001/XMLSchema#string

Caroline Sewry

http://www.w3.org/2001/XMLSchema#string

Francesco Muntoni

http://www.w3.org/2001/XMLSchema#string

Haiyan Zhou

http://www.w3.org/2001/XMLSchema#string

Iulia Munteanu

http://www.w3.org/2001/XMLSchema#string

Kamel Mamchaoui

http://www.w3.org/2001/XMLSchema#string

Komala Pillay

http://www.w3.org/2001/XMLSchema#string

Lucy Feng

http://www.w3.org/2001/XMLSchema#string

Susan Treves

http://www.w3.org/2001/XMLSchema#string

P2860

Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions

Myostatin reduces Akt/TORC1/p70S6K signaling, inhibiting myoblast differentiation and myotube size

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

What we don't know about the structure of ryanodine receptor calcium release channels.

A structural model of the pore-forming region of the skeletal muscle ryanodine receptor (RyR1)

RyR1-mediated Ca2+ leak and Ca2+ entry determine resting intracellular Ca2+ in skeletal myotubes.

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

P304

986-996

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scholarly article

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10.1002/HUMU.22326

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7

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34

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Heinz Jungbluth

Michael R. Duchen

Jo M Wilmshurst

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2013-04-17T00:00:00Z

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23553787

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