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. (Q37379287)

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scientific article published on March 1998

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English	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.	scientific article published on March 1998

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scholarly article

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10 November 2019

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 (English)

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10 November 2019

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10 November 2019

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Censier K

1

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10 November 2019

Urwyler A

2

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10 November 2019

Zorzato F

3

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1 March 1998

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10 November 2019

Journal of Clinical Investigation

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10 November 2019

101

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10 November 2019

1233-1242

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10 November 2019

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

1 reference

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Intracellular calibration of the calcium indicator indo-1 in isolated fibers of Xenopus muscle

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Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

1 reference

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Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

1 reference

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The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia

1 reference

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Isolation and characterization of human muscle cells

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Preparation and morphology of sarcoplasmic reticulum terminal cisternae from rabbit skeletal muscle

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A new generation of Ca2+ indicators with greatly improved fluorescence properties

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Single channel measurements of the calcium release channel from skeletal muscle sarcoplasmic reticulum. Activation by Ca2+ and ATP and modulation by Mg2+

1 reference

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Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

1 reference

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A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

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6 September 2017

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

1 reference

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Calibration of indo-1 and resting intracellular [Ca]i in intact rabbit cardiac myocytes

1 reference

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Ryanodine receptor Ca2+ release channels: does diversity in form equal diversity in function?

1 reference

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Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

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28 September 2017

Evidence for genetic heterogeneity in malignant hyperthermia susceptibility

1 reference

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28 September 2017

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

1 reference

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28 September 2017

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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28 September 2017

Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes

1 reference

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Excitation-contraction coupling of cultured human skeletal muscle cells and the relation between basal cytosolic Ca2+ and excitability

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Genetic effects on the variability of the halothane and caffeine muscle contracture tests.

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Oxidative metabolism of cultured human skeletal muscle cells in comparison with biopsy material

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Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs

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Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia.

1 reference

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26 June 2018

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

1 reference

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26 June 2018

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

1 reference

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Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.

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Effects of dantrolene on myoplasmic free [Ca2+] measured in vivo in patients susceptible to malignant hyperthermia

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Intracellular ionized calcium concentration in muscles from humans with malignant hyperthermia.

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Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

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2 September 2018

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

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2 September 2018

Calcium uptake by isolated sarcoplasmic reticulum: examination of halothane inhibition, pH dependence, and Ca2+ dependence of normal and malignant hyperthermic human muscle.

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Altered binding site for Ca2+ in the ryanodine receptor of human malignant hyperthermia

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Desmin is present in proliferating rat muscle satellite cells but not in bovine muscle satellite cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/9502764

12 December 2020

based on heuristic

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Malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9502764

12 December 2020

based on heuristic

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Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Caffeine stimulation of malignant hyperthermia-susceptible sarcoplasmic reticulum Ca2+ release channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/9502764

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/9502764

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The effects of caffeine on intracellular calcium, force and the rate of relaxation of mouse skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9502764

12 December 2020

based on heuristic

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10 November 2019

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10 November 2019

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10 November 2019

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