Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility (Q29871451)

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

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scholarly article

1 reference

Europe PubMed Central

9 May 2017

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

1 reference

Europe PubMed Central

9 May 2017

Ryanodine receptor 1

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GOA release 2020-03-11

cellular response to caffeine

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GOA release 2020-03-11

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based on heuristic

inferred from title

malignant hyperthermia

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based on heuristic

inferred from title

Dominique Figarella-Branger

10

object named as

Dominique Figarella-Branger

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author name string

Nicole Monnier

1

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Europe PubMed Central

9 May 2017

Geneviève Kozak-Ribbens

2

1 reference

Europe PubMed Central

9 May 2017

Renée Krivosic-Horber

3

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Europe PubMed Central

9 May 2017

Yves Nivoche

4

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Europe PubMed Central

9 May 2017

Dong Qi

5

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Europe PubMed Central

9 May 2017

Natasha Kraev

6

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Europe PubMed Central

9 May 2017

Julian Loke

7

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Europe PubMed Central

9 May 2017

Parveen Sharma

8

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Europe PubMed Central

9 May 2017

Vincenzo Tegazzin

9

1 reference

Europe PubMed Central

9 May 2017

Norma Roméro

11

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Europe PubMed Central

9 May 2017

Paulette Mezin

12

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Europe PubMed Central

9 May 2017

David Bendahan

13

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Europe PubMed Central

9 May 2017

Jean-François Payen

14

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Europe PubMed Central

9 May 2017

Thierry Depret

15

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Europe PubMed Central

9 May 2017

David H Maclennan

16

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Europe PubMed Central

9 May 2017

Joël Lunardi

17

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Europe PubMed Central

9 May 2017

publication date

1 November 2005

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Europe PubMed Central

9 May 2017

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Europe PubMed Central

9 May 2017

26

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Europe PubMed Central

9 May 2017

5

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Europe PubMed Central

9 May 2017

413-425

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Europe PubMed Central

9 May 2017

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

21 January 2018

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Malignant hyperthermia: a statistical review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetic testing for malignant hyperthermia susceptibility.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

RyR1/RyR3 chimeras reveal that multiple domains of RyR1 are involved in skeletal-type E-C coupling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel repeats in ryanodine and IP3 receptors and protein O-mannosyltransferases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Skeletal muscle ryanodine receptor is a redox sensor with a well defined redox potential that is sensitive to channel modulators.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Glutathione modulates ryanodine receptor from skeletal muscle sarcoplasmic reticulum. Evidence for redox regulation of the Ca2+ release mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular identification of the ryanodine receptor pore-forming segment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20231

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20231

1 reference

Europe PubMed Central

9 May 2017

1 reference

Europe PubMed Central

9 May 2017

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