Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia (Q41781551)

9 October 2017

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia (English)

1 reference

9 October 2017

malignant hyperthermia

1 reference

Remai Parker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Elaine Langton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Terasa Bulger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Neil Pollock

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Andrew Bjorksten

6

1 reference

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11 June 2020

Robyn Gillies

7

1 reference

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11 June 2020

David Hutchinson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Kathryn M Stowell

10

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11 June 2020

language of work or name

1 reference

15 May 2017

1 reference

Journal of neuromuscular diseases

9 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

4

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11 June 2020

issue

2

1 reference

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11 June 2020

page(s)

147-158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

11 June 2020

copyright license

start time

30 May 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

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Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region

6 June 2018

1 reference

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Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution

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6 June 2018

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Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease

6 June 2018

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6 June 2018

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6 June 2018

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

6 June 2018

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6 June 2018

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Mutations in RYR1 in malignant hyperthermia and central core disease

6 June 2018

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Central core disease is due to RYR1 mutations in more than 90% of patients.

6 June 2018

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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

6 June 2018

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

6 June 2018

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The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease

6 June 2018

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

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

6 June 2018

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

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

6 June 2018

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Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance

6 June 2018

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18 August 2018

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18 August 2018

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18 August 2018

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18 August 2018

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18 August 2018

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18 August 2018

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18 August 2018

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18 August 2018

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The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene

18 August 2018

1 reference

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18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28527222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Malignant hyperthermia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28527222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

PubMed

https://pubmed.ncbi.nlm.nih.gov/28527222

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3233/JND-170210

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28527222%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

28527222

1 reference