(Q35704843)

English

Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle

scientific article published on 2 December 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Genaro C Barrientos

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Wei Feng

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Kim Truong

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Klaus I Matthaei

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Tianzhong Yang

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Paul D Allen

6

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

José R Lopez

7

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Isaac N Pessah

8

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

2 December 2011

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

287

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

2863-2876

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Role of amino-terminal half of the S4-S5 linker in type 1 ryanodine receptor (RyR1) channel gating

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum

1 reference

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27 July 2018

Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice

1 reference

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27 July 2018

Regulation of muscle atrophy in aging and disease.

1 reference

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27 July 2018

A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels

1 reference

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Characterization and temporal development of cores in a mouse model of malignant hyperthermia

1 reference

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27 July 2018

The Na+/Ca2+ exchange inhibitor 2-(2-(4-(4-nitrobenzyloxy)phenyl)ethyl)isothiourea methanesulfonate (KB-R7943) also blocks ryanodine receptors type 1 (RyR1) and type 2 (RyR2) channels

1 reference

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27 July 2018

A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice

1 reference

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27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Allosterically coupled calcium and magnesium binding sites are unmasked by ryanodine receptor chimeras

1 reference

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In situ measurements of calpain activity in isolated muscle fibres from normal and dystrophin-lacking mdx mice

1 reference

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27 July 2018

Pharmacologic and functional characterization of malignant hyperthermia in the R163C 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=3267780

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Mutations in RYR1 in malignant hyperthermia and central core disease

1 reference

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Crystal structure of a mammalian voltage-dependent Shaker family K+ channel

1 reference

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27 July 2018

Malignant hyperthermia: update on susceptibility testing

1 reference

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27 July 2018

Efficacy of MitoTracker Green and CMXrosamine to measure changes in mitochondrial membrane potentials in living cells and tissues

1 reference

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27 July 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=3267780

27 July 2018

PKA phosphorylation activates the calcium release channel (ryanodine receptor) in skeletal muscle: defective regulation in heart failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Regulation of mammalian ryanodine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Skeletal muscle channelopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Methods for myoblast transplantation

1 reference

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27 July 2018

Bastadins relate ryanodine-sensitive and -insensitive Ca2+ efflux pathways in skeletal SR and BC3H1 cells

1 reference

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27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267780

27 July 2018

Phosphorylation modulates the function of the calcium release channel of sarcoplasmic reticulum from skeletal muscle

1 reference

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27 July 2018

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

1 reference

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Bound and determined: a computer program for making buffers of defined ion concentrations

1 reference

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27 July 2018

Discrimination of multiple binding sites for antagonists of the calcium release channel complex of skeletal and cardiac sarcoplasmic reticulum

1 reference

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27 July 2018

A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene

1 reference

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25 September 2018

Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005.

1 reference

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25 September 2018

A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

1 reference

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Analysis of RYR1 haplotype profile in patients with malignant hyperthermia

1 reference

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

1 reference

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

1 reference

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

1 reference

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Role of adiponectin in human skeletal muscle bioenergetics

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

1 reference

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Ryanodine receptor type 1 (RyR1) mutations C4958S and C4961S reveal excitation-coupled calcium entry (ECCE) is independent of sarcoplasmic reticulum store depletion

1 reference

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Voltage sensor of Kv1.2: structural basis of electromechanical coupling

1 reference

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25 September 2018

Dantrolene stabilizes domain interactions within the ryanodine receptor.

1 reference

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Conformational activation of Ca2+ entry by depolarization of skeletal myotubes

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

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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: an inherited disorder of skeletal muscle Ca+ regulation

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Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

1 reference

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Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia

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

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1 reference

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

1 reference

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Ca2+-activated ryanodine binding: mechanisms of sensitivity and intensity modulation by Mg2+, caffeine, and adenine nucleotides

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Characterization of multiple [3H]ryanodine binding sites on the Ca2+ release channel of sarcoplasmic reticulum from skeletal and cardiac muscle: evidence for a sequential mechanism in ryanodine action

1 reference

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[Determination of intracellular free calcium concentration, in vivo, in swine susceptible to malignant hyperthermia syndrome]

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and localization of two triad junctional foot protein isoforms in mature avian fast twitch skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/22139840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ca2+ inactivation, Mg2+ inhibition and malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22139840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Magnesium inhibition of ryanodine-receptor calcium channels: evidence for two independent mechanisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/22139840

12 December 2020

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inferred from PubMed ID database lookup

Gating of the skeletal calcium release channel by ATP is inhibited by protein phosphatase 1 but not by Mg2+

1 reference

https://pubmed.ncbi.nlm.nih.gov/22139840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M111.307926

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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