(Q35756769)

10 August 2017

title

Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness (English)

1 reference

10 August 2017

main subject

malignant hyperthermia

1 reference

4

Ian M Carr

0 references

author name string

Dorota Fiszer

1

1 reference

10 August 2017

Marie-Anne Shaw

2

1 reference

10 August 2017

Nickla A Fisher

3

1 reference

10 August 2017

Pawan K Gupta

5

1 reference

10 August 2017

Elizabeth J Watkins

6

1 reference

10 August 2017

Daniel Roiz de Sa

7

1 reference

10 August 2017

Jerry H Kim

8

1 reference

10 August 2017

Philip M Hopkins

9

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 May 2015

1 reference

10 August 2017

number of pages

14

1 reference

based on heuristic

inferred from page(s)

published in

Anesthesiology

1 reference

10 August 2017

volume

122

1 reference

10 August 2017

issue

5

1 reference

10 August 2017

page(s)

1033-1046

1 reference

A general framework for estimating the relative pathogenicity of human genetic variants

10 August 2017

cites work

1 reference

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Using exome data to identify malignant hyperthermia susceptibility mutations

2 October 2017

1 reference

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Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States

2 October 2017

1 reference

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An integrated map of genetic variation from 1,092 human genomes

2 October 2017

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Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.

2 October 2017

1 reference

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

2 October 2017

1 reference

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

2 October 2017

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Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

2 October 2017

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2 October 2017

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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A method and server for predicting damaging missense mutations

2 October 2017

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The role of CACNA1S in predisposition to malignant hyperthermia

2 October 2017

1 reference

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A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy

2 October 2017

1 reference

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Increasing the number of diagnostic mutations in malignant hyperthermia.

2 October 2017

1 reference

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Mutations in RYR1 in malignant hyperthermia and central core disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

2 October 2017

1 reference

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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.

2 October 2017

1 reference

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Multiple regions of RyR1 mediate functional and structural interactions with alpha(1S)-dihydropyridine receptors in skeletal muscle

2 October 2017

1 reference

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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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Genetic diagnosis of familial breast cancer using clonal sequencing

2 October 2017

1 reference

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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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

12 July 2018

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Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

12 July 2018

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25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Genetic variation in RYR1 and malignant hyperthermia phenotypes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

A NEW WEIGHTING SYSTEM FOR MEAN SURFACE TEMPERATURE OF THE HUMAN BODY.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Several interacting genes influence the malignant hyperthermia phenotype.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

A noninvasive investigation of muscle energetics supports similarities between exertional heat stroke and malignant hyperthermia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4472733

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

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25658027

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25658027

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/ALN.0000000000000610

1 reference

10.1097/ALN.0000000000000610

10 August 2017

Altmetric DOI

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Dimensions Publication ID

0 references

1 reference

10 August 2017

1 reference