A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres. (Q37004813)

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25 December 2019

case report

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title

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres (English)

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25 December 2019

1

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Corrado Angelini

9

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25 December 2019

Vincenzo Sorrentino

12

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4

Lucia Galli

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25 December 2019

5

Stefania Lorenzini

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25 December 2019

author name string

Patrick De Smet

2

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25 December 2019

Alla Lyfenko

3

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Daniela Franci

6

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25 December 2019

Francesco Petrioli

7

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Alfredo Orrico

8

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25 December 2019

Vincenzo Tegazzin

10

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25 December 2019

Robert Dirksen

11

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25 December 2019

language of work or name

English

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publication date

1 February 2007

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Journal of Medical Genetics

25 December 2019

published in

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volume

44

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issue

2

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page(s)

e67

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

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

Ryanodine receptor regulation by intramolecular interaction between cytoplasmic and transmembrane domains.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

Calmodulin binding to the 3614-3643 region of RyR1 is not essential for excitation-contraction coupling in skeletal myotubes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

A clinical grading scale to predict malignant hyperthermia susceptibility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

Oligomerization of the cardiac ryanodine receptor C-terminal tail

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

Carboxyl-terminal sequences critical for inositol 1,4,5-trisphosphate receptor subunit assembly

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

RyR1 and RyR3 isoforms provide distinct intracellular Ca2+ signals in HEK 293 cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598062

The ryanodine receptor-Ca2+ release channel complex of skeletal muscle sarcoplasmic reticulum. Evidence for a cooperatively coupled, negatively charged homotetramer

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17293538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Evidence for a role of C-terminal amino acid residues in skeletal muscle Ca2+ release channel (ryanodine receptor) function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17293538

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.043794

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17293538%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

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25 December 2019

PubMed publication ID

17293538

1 reference