(Q50658933)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

Assessing the pathogenicity of RYR1 variants in malignant hyperthermia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

author name string

A Merritt

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

P Booms

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

M-A Shaw

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

D M Miller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

C Daly

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

J G Bilmen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

K M Stowell

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

P D Allen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

D S Steele

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

P M Hopkins

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

language of work or name

English

0 references

publication date

1 April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

number of pages

11

1 reference

full work available at URL

inferred from page(s)

http://eprints.whiterose.ac.uk/110663

content deliverer

White Rose Research Online

0 references

published in

British Journal of Anaesthesia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

volume

118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

issue

4

1 reference

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17 March 2020

page(s)

533-543

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

17 March 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6906626/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

1 reference

12 December 2020

Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells

1 reference

12 December 2020

Using exome data to identify malignant hyperthermia susceptibility mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

1 reference

12 December 2020

The presence of a functional t-tubule network increases the sensitivity of RyR1 to agonists in skinned rat skeletal muscle fibres

1 reference

12 December 2020

The role of CACNA1S in predisposition to malignant hyperthermia

1 reference

12 December 2020

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

1 reference

12 December 2020

European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility

1 reference

12 December 2020

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

1 reference

12 December 2020

Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

Mutations in RYR1 in malignant hyperthermia and central core disease

1 reference

12 December 2020

A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

12 December 2020

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

12 December 2020

Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model

1 reference

12 December 2020

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

1 reference

12 December 2020

Malignant hyperthermia: pharmacology of triggering

1 reference

12 December 2020

Genetic variation in RYR1 and malignant hyperthermia phenotypes

1 reference

12 December 2020

Creating random mutagenesis libraries using megaprimer PCR of whole plasmid

1 reference

12 December 2020

A tunable genetic switch based on RNAi and repressor proteins for regulating gene expression in mammalian cells

1 reference

12 December 2020

An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia.

1 reference

12 December 2020

Several interacting genes influence the malignant hyperthermia phenotype.

1 reference

12 December 2020

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.

1 reference

12 December 2020

Increasing the number of diagnostic mutations in malignant hyperthermia.

1 reference

12 December 2020

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

1 reference

12 December 2020

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

1 reference

12 December 2020

Identifiers

DOI

10.1093/BJA/AEX042

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 March 2020

Altmetric DOI

10.1093/BJA/AEX042

0 references

1083930721

0 references

Microsoft Academic ID

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

PubMed publication ID

28403410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28403410%20AND%20SRC:MED&resulttype=core&format=json