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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29 July 2017

McCarthy T

series ordinal

2

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29 July 2017

Lehmann-Horn F

series ordinal

3

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29 July 2017

publication date

1 January 2000

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29 July 2017

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29 July 2017

volume

23

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29 July 2017

issue

1

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29 July 2017

page(s)

4-17

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Possible malignant hyperpyrexia.

29 July 2017

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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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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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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

21 January 2018

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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

21 January 2018

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Metabolic error of muscle metabolism after recovery from malignant hyperthermia

21 January 2018

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Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

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.

21 January 2018

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Inheritance of malignant hyperpyrexia

21 January 2018

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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

21 January 2018

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

21 January 2018

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Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?

21 January 2018

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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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Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

21 January 2018

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

21 January 2018

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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

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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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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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Identification of Dantrolene Binding Sites in Porcine Skeletal Muscle Sarcoplasmic Reticulum

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

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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21 January 2018

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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.

21 January 2018

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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

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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

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DOI

1 reference

29 July 2017

1 reference