A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease (Q36460971)

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English	A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease (English)

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

transmembrane protein

0 references

author name string

Lynch PJ

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Tong J

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Lehane M

3

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Mallet A

4

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Giblin L

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Heffron JJ

6

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Vaughan P

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Zafra G

8

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

MacLennan DH

9

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

McCarthy TV

10

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

language of work or name

0 references

publication date

1 March 1999

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Proceedings of the National Academy of Sciences of the United States of America

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Europe PubMed Central

PMC publication ID

14 August 2017

96

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

7

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

4164-4169

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

A new congenital non-progressive myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Characterization of recombinant rabbit cardiac and skeletal muscle Ca2+ release channels (ryanodine receptors) with a novel [3H]ryanodine binding assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

A calcium signaling cascade essential for myosin thick filament assembly in Xenopus myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

A novel process for mutation detection using uracil DNA-glycosylase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 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=22438

30 September 2017

Functional calcium release channel formed by the carboxyl-terminal portion of ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 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=22438

30 September 2017

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Refined genetic localization for central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

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=22438

30 September 2017

Association of triadin with the ryanodine receptor and calsequestrin in the lumen of the sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Central-core disease and malignant hyperpyrexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

A new generation of Ca2+ indicators with greatly improved fluorescence properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

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=22438

30 September 2017

Thapsigargin, a tumor promoter, discharges intracellular Ca2+ stores by specific inhibition of the endoplasmic reticulum Ca2(+)-ATPase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

30 September 2017

Central core disease. Clinical features in 13 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

28 June 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=22438

28 June 2018

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

28 June 2018

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

28 June 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=22438

21 September 2018

Expression of cytoskeleton proteins in central core disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22438

21 September 2018

A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. The European Malignant Hyperpyrexia Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the high and low affinity [3H]ryanodine binding sites on the skeletal muscle Ca2+ release channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lumenal sites and C terminus accessibility of the skeletal muscle calcium release channel (ryanodine receptor)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intravesicular calcium transient during calcium release from sarcoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multipoint mapping of the central core disease locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered binding site for Ca2+ in the ryanodine receptor of human malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10097181

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.96.7.4164

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1999PNAS...96.4164L

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

0 references

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