(Q44480201)

English

The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

author name string

Markus Wehner

1

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Henrik Rueffert

2

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Fritjoff Koenig

3

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Claus Dieter Meinecke

4

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Derk Olthoff

5

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

publication date

1 August 2003

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Europe PubMed Central

PubMed publication ID

3 December 2017

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

163-168

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

Voltage-gated ion channels and hereditary disease

1 reference

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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

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7 January 2021

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Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

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Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

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A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

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7 January 2021

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Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

1 reference

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The Hill equation revisited: uses and misuses.

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Discordance between phenotype and genotype in malignant hyperthermia

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False-negative results with muscle caffeine halothane contracture testing for malignant hyperthermia.

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Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

1 reference

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

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Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

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Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes.

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Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

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Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum

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

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

1 reference

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based on heuristic

inferred from DOI database lookup

Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia

1 reference

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based on heuristic

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A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility

1 reference

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inferred from DOI database lookup

Identifiers

10.1016/S0143-4160(03)00072-1

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 December 2017

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