(Q42663988)

English

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

scientific article published on April 1997

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

malignant hyperthermia

1 reference

based on heuristic

inferred from title

author name string

K E Keating

1

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

L Giblin

2

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

P J Lynch

3

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

K A Quane

4

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

M Lehane

5

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

J J Heffron

6

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

T V McCarthy

7

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

language of work or name

0 references

publication date

1 April 1997

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

34

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

4

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

291-296

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

A clinical grading scale to predict malignant hyperthermia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Structure and function of ryanodine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Abnormality in calcium release from skeletal sarcoplasmic reticulum of pigs susceptible to malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Abnormal sarcoplasmic reticulum ryanodine receptor in malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Prediction of malignant hyperthermia susceptibility: statistical evaluation of clinical signs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Trinucleotide repeat polymorphism at the D19S190 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

FK506 binding protein associated with the calcium release channel (ryanodine receptor)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

27 May 2018

Intracellular ionized calcium concentration in muscles from humans with malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050914

16 August 2018

Malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9138151

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/9138151

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9138151

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/9138151

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/9138151

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9138151

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.4.291

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

4 November 2017

ResearchGate publication ID

0 references

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