(Q34883560)

5 August 2017

1 reference

title

Malignant hyperthermia: a pharmacogenetic disorder. (English)

1 reference

5 August 2017

main subject

malignant hyperthermia

1 reference

Kathryn M Stowell

1

1 reference

5 August 2017

publication date

1 November 2008

1 reference

5 August 2017

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5 August 2017

volume

9

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5 August 2017

issue

11

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5 August 2017

page(s)

1657-1672

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Current aspects of the diagnosis of malignant hyperthermia

5 August 2017

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1 reference

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Mutations in RYR1 in malignant hyperthermia and central core disease

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Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing

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Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

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Malignant hyperthermia: biochemical aspects of the acute episode

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21 January 2018

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Evidence for susceptibility to malignant hyperthermia in patients with exercise-induced rhabdomyolysis

21 January 2018

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Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.

21 January 2018

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Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity

21 January 2018

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FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes

21 January 2018

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In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

21 January 2018

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Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.

21 January 2018

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Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Ryanodine receptor gene (RYR1) mutations for diagnosing susceptibility to malignant hyperthermia

21 January 2018

1 reference

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The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS.

21 January 2018

1 reference

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Personal recollections on the discovery of the ryanodine receptors of muscle

21 January 2018

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Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Structural insights into excitation-contraction coupling by electron cryomicroscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Structural characterization of the RyR1-FKBP12 interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

The relative position of RyR feet and DHPR tetrads in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

NAADP mobilizes Ca2+ from a thapsigargin-sensitive store in the nuclear envelope by activating ryanodine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Dihydropyridine receptor-ryanodine receptor interactions in skeletal muscle excitation-contraction coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Regulation of calcium release by interdomain interaction within ryanodine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Multiple regions of RyR1 mediate functional and structural interactions with alpha(1S)-dihydropyridine receptors in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Ryanodine receptor defects in muscle genetic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Ca2+ signalling and muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Calcium regulation and muscle disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Molecular basis of the CRAC channel

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Ca2+ store determines gating of store operated calcium entry in mammalian skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Junctional membrane structure and store operated calcium entry in muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Modulation of store-operated Ca2+ entry by cyclic-ADP-ribose.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Store operated Ca2+ influx by selective depletion of ryanodine sensitive Ca2+ pools in primary human skeletal muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Depletion of Ca2+ in the sarcoplasmic reticulum stimulates Ca2+ entry into mouse skeletal muscle fibres

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Identification of the coupling between skeletal muscle store-operated Ca2+ entry and the inositol trisphosphate receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

STIM1, an essential and conserved component of store-operated Ca2+ channel function

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

STIM1 is a Ca2+ sensor that activates CRAC channels and migrates from the Ca2+ store to the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Functional coupling between TRPC3 and RyR1 regulates the expressions of key triadic proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

TRPC3-like protein and vitamin D receptor mediate 1alpha,25(OH)2D3-induced SOC influx in muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

The foot structure from the type 1 ryanodine receptor is required for functional coupling to store-operated channels

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Conformational activation of Ca2+ entry by depolarization of skeletal myotubes

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

RyR1 exhibits lower gain of CICR activity than RyR3 in the SR: evidence for selective stabilization of RyR1 channel

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction Coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Dantrolene stabilizes domain interactions within the ryanodine receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Expression of ryanodine receptors in human embryonic kidney (HEK293) cells

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Caffeine-induced release of intracellular Ca2+ from Chinese hamster ovary cells expressing skeletal muscle ryanodine receptor. Effects on full-length and carboxyl-terminal portion of Ca2+ release channels

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Interdomain interactions within ryanodine receptors regulate Ca2+ spark frequency in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Multiple effects of caffeine on Ca2+ release and influx in human B lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Defective Mg2+ regulation of RyR1 as a causal factor in malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Excitation-contraction coupling from the 1950s into the new millennium.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Effects of peptide C corresponding to the Glu724-Pro760 region of the II-III loop of the DHP (dihydropyridine) receptor alpha1 subunit on the domain- switch-mediated activation of RyR1 (ryanodine receptor 1) Ca2+ channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Regulation of skeletal ryanodine receptors by dihydropyridine receptor II-III loop C-region peptides: relief of Mg2+ inhibition.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

The alpha(1S) III-IV loop influences 1,4-dihydropyridine receptor gating but is not directly involved in excitation-contraction coupling interactions with the type 1 ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Postulated role of interdomain interaction between regions 1 and 2 within type 1 ryanodine receptor in the pathogenesis of porcine malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Novel sarco(endo)plasmic reticulum proteins and calcium homeostasis in striated muscles.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

TRPC3-interacting triadic proteins in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Co-expression of MG29 and ryanodine receptor leads to apoptotic cell death: effect mediated by intracellular Ca2+ release

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Dysfunction of store-operated calcium channel in muscle cells lacking mg29.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Characterization of recessive RYR1 mutations in core myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

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

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

Retrograde regulation of store-operated calcium channels by the ryanodine receptor-associated protein triadin 95 in rat skeletal myotubes

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.11.1657

10.2217/14622416.9.11.1657

21 January 2018

Identifiers

DOI

1 reference

release_2hgl2tq5d5hpvacgpbxbviskom

5 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2hgl2tq5d5hpvacgpbxbviskom

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference