The role of CACNA1S in predisposition to malignant hyperthermia (Q33510262)

27 July 2017

The role of CACNA1S in predisposition to malignant hyperthermia (English)

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27 July 2017

malignant hyperthermia

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Danielle Carpenter

1

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27 July 2017

Christopher Ringrose

2

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27 July 2017

Vincenzo Leo

3

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27 July 2017

Andrew Morris

4

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27 July 2017

Rachel L Robinson

5

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27 July 2017

P Jane Halsall

6

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27 July 2017

Philip M Hopkins

7

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27 July 2017

Marie-Anne Shaw

8

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27 July 2017

13 October 2009

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27 July 2017

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27 July 2017

10

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27 July 2017

104

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https://scigraph.springernature.com/pub.10.1186/1471-2350-10-104

27 July 2017

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cites work

A flexible Bayesian framework for modeling haplotype association with disease, allowing for dominance effects of the underlying causative variants

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Mutations in RYR1 in malignant hyperthermia and central core disease

21 June 2018

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A possible role of the junctional face protein JP-45 in modulating Ca2+ release in skeletal muscle.

21 June 2018

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Direct analysis of unphased SNP genotype data in population-based association studies via Bayesian partition modelling of haplotypes

21 June 2018

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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)

21 June 2018

1 reference

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Correlating phenotype and genotype in the periodic paralyses

21 June 2018

1 reference

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Haploview: analysis and visualization of LD and haplotype maps

21 June 2018

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Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

A comparison of bayesian methods for haplotype reconstruction from population genotype data

21 June 2018

1 reference

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Identification of new polymorphisms in the CACNA1S gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

A New Statistical Method for Haplotype Reconstruction from Population Data

21 June 2018

1 reference

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Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

A calcium channel mutation causing hypokalemic periodic paralysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Genetic variation in RYR1 and malignant hyperthermia phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Epigenetic allele silencing and variable penetrance of malignant hyperthermia susceptibility

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Severe prognosis in a large family with hypokalemic periodic paralysis.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Several interacting genes influence the malignant hyperthermia phenotype.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Multiple interacting gene products may influence susceptibility to malignant hyperthermia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2770053

Regulation of RYR1 activity by Ca(2+) and calmodulin

31 October 2018

1 reference

12 December 2020

Hypokalemic periodic paralysis and mutations in the CACNL1A3 gene: case study in a Japanese family

1 reference

12 December 2020

Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis

1 reference

12 December 2020

Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis

1 reference

12 December 2020

Malignant hyperthermia

1 reference

12 December 2020

Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect

1 reference

12 December 2020

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

1 reference

12 December 2020

[Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families]

1 reference

12 December 2020

Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

1 reference

12 December 2020

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-10-104

1 reference

Dimensions Publication ID

27 July 2017

0 references

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27 July 2017

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