Genetics and pathogenesis of malignant hyperthermia (Q33789806)

29 July 2017

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title

Genetics and pathogenesis of malignant hyperthermia (English)

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29 July 2017

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malignant hyperthermia

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Jurkat-Rott K

1

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PubMed ID

10590402

29 July 2017

McCarthy T

series ordinal

2

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PubMed ID

10590402

29 July 2017

Lehmann-Horn F

series ordinal

3

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29 July 2017

1 January 2000

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29 July 2017

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29 July 2017

23

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29 July 2017

4-17

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Possible malignant hyperpyrexia.

29 July 2017

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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.

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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

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Malignant hyperthermia: a statistical review

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Abnormal rapid Ca2+ release from sarcoplasmic reticulum of malignant hyperthermia susceptible pigs

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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.

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Single-channel properties of the recombinant skeletal muscle Ca2+ release channel (ryanodine receptor).

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Fatty acids markedly lower the threshold for halothane-induced calcium release from the terminal cisternae in human and porcine normal and malignant hyperthermia susceptible skeletal muscle.

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

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

21 January 2018

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Assignment of the porcine calcium release channel gene, a candidate for the malignant hyperthermia locus, to the 6p11----q21 segment of chromosome 6.

21 January 2018

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Propofol in malignant hyperthermia

21 January 2018

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Malignant hyperthermia (MH) diagnostics: a comparison between the halothane-caffeine- and the ryanodine-contracture-test results in MH susceptible, normal and control muscle.

21 January 2018

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Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.

21 January 2018

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Halothane-caffeine contracture testing in neuromuscular diseases.

21 January 2018

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A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

21 January 2018

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21 January 2018

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Ryanodine contracture: a potentially specific in vitro diagnostic test for malignant hyperthermia.

21 January 2018

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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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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.

21 January 2018

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Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility

21 January 2018

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A calcium channel mutation causing hypokalemic periodic paralysis

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Metabolic error of muscle metabolism after recovery from malignant hyperthermia

21 January 2018

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21 January 2018

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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

21 January 2018

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Anesthetic-induced malignant hyperpyrexia in children.

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Inheritance of malignant hyperpyrexia

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Dantrolene in Human Malignant Hyperthermia A Multicenter Study

21 January 2018

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Effect of propofol on the malignant hyperthermia susceptible pig model

21 January 2018

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A clinical grading scale to predict malignant hyperthermia susceptibility

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Reduced inhibitory effect of Mg2+ on ryanodine receptor-Ca2+ release channels in malignant hyperthermia.

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

21 January 2018

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

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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

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

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21 January 2018

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Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant-hyperthermia-susceptible muscle.

21 January 2018

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21 January 2018

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Effects of halothane, caffeine, dantrolene and tetracaine on the calcium permeability of skeletal sarcoplasmic reticulum of malignant hyperthermic pigs

21 January 2018

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21 January 2018

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Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility

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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4-Chloro-m-cresol test--a possible supplementary test for diagnosis of malignant hyperthermia susceptibility.

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Identification of dantrolene binding sites in porcine skeletal muscle sarcoplasmic reticulum.

21 January 2018

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Early over-expression of low-affinity [3H]ryanodine receptor sites in heavy sarcoplasmic reticulum fraction from dystrophic chicken pectoralis major

21 January 2018

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The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

21 January 2018

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21 January 2018

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Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.

21 January 2018

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Further evidence on the inheritance of halothane reaction in pigs.

21 January 2018

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

21 January 2018

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Genetic heterogeneity and HOMOG analysis in British malignant hyperthermia families

21 January 2018

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Characterization of swine susceptible to malignant hyperthermia by in vivo, in vitro and post-mortem techniques.

21 January 2018

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Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family.

21 January 2018

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Ca2+ release channels of pigs heterozygous for malignant hyperthermia.

21 January 2018

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A new congenital non-progressive myopathy

21 January 2018

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Malignant hyperthermia: a review of published cases

21 January 2018

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Voltage-dependent calcium release in human malignant hyperthermia muscle fibers

21 January 2018

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Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

21 January 2018

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

21 January 2018

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Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

21 January 2018

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Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling.

21 January 2018

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Chlorocresol, an additive to commercial succinylcholine, induces contracture of human malignant hyperthermia-susceptible muscles via activation of the ryanodine receptor Ca2+ channel.

21 January 2018

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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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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/10.1002%2F%28SICI%291097-4598%28200001%2923%3A1%3C4%3A%3AAID-MUS3%3E3.0.CO%3B2-D

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/10.1002%2F%28SICI%291097-4598%28200001%2923%3A1%3C4%3A%3AAID-MUS3%3E3.0.CO%3B2-D

Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28200001%2923%3A1%3C4%3A%3AAID-MUS3%3E3.0.CO%3B2-D

A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28200001%2923%3A1%3C4%3A%3AAID-MUS3%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28200001%2923%3A1%3C4%3A%3AAID-MUS3%3E3.0.CO%3B2-D

Third Component Participating in the Super precipitation of ‘Natural Actomyosin’

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28200001%2923%3A1%3C4%3A%3AAID-MUS3%3E3.0.CO%3B2-D

10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10590402