Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations (Q59034021)

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English	Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations	article

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

2 references

20 October 2020

20 October 2022

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

malignant hyperthermia

7 references

13 March 2019

30 June 2019

14 September 2019

11 December 2019

15 December 2019

23 December 2019

20 October 2020

genetic variation

1 reference

14 September 2019

6 references

14 September 2019

11 December 2019

15 December 2019

23 December 2019

20 October 2020

20 October 2022

contractile proteins

1 reference

11 December 2019

membrane protein

1 reference

15 December 2019

1 reference

20 October 2020

Antonella Carsana

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

author name string

Antonella Carsana

1

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publication date

10 February 2013

9 references

13 March 2019

30 June 2019

14 September 2019

11 December 2019

15 December 2019

23 December 2019

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

20 October 2020

20 October 2022

The Scientific World Journal

9 references

13 March 2019

30 June 2019

14 September 2019

11 December 2019

15 December 2019

23 December 2019

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

20 October 2020

20 October 2022

2013

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

531465

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

copyright license

Creative Commons Attribution 3.0 Unported

8 references

Europe PubMed Central

13 March 2019

Europe PubMed Central

30 June 2019

Europe PubMed Central

14 September 2019

Europe PubMed Central

11 December 2019

Europe PubMed Central

15 December 2019

Europe PubMed Central

23 December 2019

Europe PubMed Central

20 October 2020

Europe PubMed Central

20 October 2022

copyright status

0 references

on focus list of Wikimedia project

0 references

Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Genetic variation in RYR1 and malignant hyperthermia phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility

1 reference

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30 November 2018

Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Increasing the number of diagnostic mutations in malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Human non-synonymous SNPs: server and survey

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Rhabdomyolysis: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Malignant hyperthermia and apparent heat stroke

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

A case of discordance between genotype and phenotype in a malignant hyperthermia family.

1 reference

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30 November 2018

Rhabdomyolysis following severe physical exercise in a patient with predisposition to malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3582168

30 November 2018

Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels.

1 reference

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30 November 2018

Sudden unexplained death in a patient with a family history of malignant hyperthermia

1 reference

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30 November 2018

Postexercise muscle cramping associated with positive malignant hyperthermia contracture testing.

1 reference

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30 November 2018

Pathological findings in 165 patients explored for malignant hyperthermia susceptibility.

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30 November 2018

Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group

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30 November 2018

Muscle biopsy for diagnosis of malignant hyperthermia susceptibility in two patients with severe exercise-induced myolysis

1 reference

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30 November 2018

In vitro contraction test for malignant hyperthermia in patients with unexplained recurrent rhabdomyolysis

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30 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/23476141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23476141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies of body temperatures, blood lactate, cortisol and free fatty acid levels during exercise in human subjects susceptible to malignant hyperpyrexia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23476141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23476141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thermoregulation, plasma catecholamine and metabolite levels during submaximal work in individuals susceptible to malignant hyperpyrexia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23476141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1155/2013/531465

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

release_hfwqcy7lnbg7ni3cj5oes3jclq

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23476141%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

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