Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease (Q36586052)

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scientific article published on 24 November 2012

Language	Label	Description	Also known as
English	Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease	scientific article published on 24 November 2012

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

Natalia Kraeva

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Elena Zvaritch

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Ann E Rossi

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Sanjeewa A Goonasekera

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Hilal Zaid

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Wanda Frodis

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Alexander Kraev

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Robert T Dirksen

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

David H Maclennan

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Sheila Riazi

10

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

24 November 2012

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Neuromuscular Disorders

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

23

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

120-132

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Pathological defects in congenital myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Central core disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Mutations in RYR1 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=3563839

9 September 2017

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

The pore structure of the closed RyR1 channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling 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=3563839

9 September 2017

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 2017

Functional effects of central core disease mutations in the cytoplasmic region of the 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=3563839

9 September 2017

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 September 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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

9 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=3563839

9 September 2017

Single-channel properties of the recombinant skeletal muscle Ca2+ 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=3563839

9 September 2017

Increasing the number of diagnostic mutations in malignant hyperthermia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

30 September 2017

Characterization of recessive RYR1 mutations in core myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

30 September 2017

Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

30 September 2017

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the 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=3563839

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=3563839

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=3563839

30 September 2017

Functional consequences of mutations of conserved, polar amino acids in transmembrane sequences of the Ca2+ release channel (ryanodine receptor) of rabbit 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=3563839

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=3563839

30 September 2017

Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

28 June 2018

182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

RYR1 mutations are a common cause of congenital myopathies with central nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

The spectrum of pathology 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=3563839

20 September 2018

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

20 September 2018

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the 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=3563839

20 September 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=3563839

20 September 2018

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

4 December 2018

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3563839

4 December 2018

Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23183335

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/23183335

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23183335

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence-based prediction of pathological mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23183335

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.NMD.2012.08.007

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

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