(Q41083180)

English

Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area

scientific article published on January 2007

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Malignant hyperthermia mutation sites in the Leu2442-Pro2477 (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

malignant hyperthermia

1 reference

based on heuristic

inferred from title

Mark L Bannister

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Angela F Dulhunty

6

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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Tomoyo Hamada

2

1 reference

Europe PubMed Central

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29 December 2019

Takashi Murayama

3

1 reference

Europe PubMed Central

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29 December 2019

Marco G Casarotto

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Noriaki Ikemoto

7

1 reference

Europe PubMed Central

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29 December 2019

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publication date

1 January 2007

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Europe PubMed Central

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29 December 2019

Biochemical Journal

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29 December 2019

401

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29 December 2019

1

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29 December 2019

333-339

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction Coupling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Interdomain interactions within ryanodine receptors regulate Ca2+ spark frequency in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

FKBP12 binding modulates ryanodine receptor channel gating

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Ca2+ signalling and muscle disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Ryanodine receptor mutations in malignant hyperthermia and central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

A two-dimensional nuclear Overhauser enhancement (2D NOE) experiment for the elucidation of complete proton-proton cross-relaxation networks in biological macromolecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

26 September 2017

Effects of peptide C corresponding to the Glu724-Pro760 region of the II-III loop of the DHP (dihydropyridine) receptor alpha1 subunit on the domain- switch-mediated activation of RyR1 (ryanodine receptor 1) Ca2+ channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

17 June 2018

The recombinant dihydropyridine receptor II-III loop and partly structured 'C' region peptides modify cardiac ryanodine receptor activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

17 June 2018

Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

17 June 2018

Three-dimensional structure of ryanodine receptor isoform three in two conformational states as visualized by cryo-electron microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

17 June 2018

Effects of an alpha-helical ryanodine receptor C-terminal tail peptide on ryanodine receptor activity: modulation by Homer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

19 August 2018

Dantrolene stabilizes domain interactions within the ryanodine receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

19 August 2018

Spectroscopic monitoring of local conformational changes during the intramolecular domain-domain interaction of the ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

19 August 2018

Effects of a domain peptide of the ryanodine receptor on Ca2+ release in skinned skeletal muscle fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

19 August 2018

Malignant hyperthermia in infancy and identification of novel RYR1 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

19 August 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1698659

19 August 2018

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16958617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of calcium release in isolated membrane systems: coupling between the transverse tubule and sarcoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/16958617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16958617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postulated role of interdomain interaction within the ryanodine receptor in Ca(2+) channel regulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16958617

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ20060902

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16958617%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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