(Q24676753)

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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

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199552%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199552%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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Vincent Procaccio

2

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4 November 2019

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N Monnier

1

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4 November 2019

P Stieglitz

3

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4 November 2019

J Lunardi

4

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4 November 2019

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1 June 1997

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4 November 2019

American Journal of Human Genetics

1 reference

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4 November 2019

60

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4 November 2019

1316-1325

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4 November 2019

6

1 reference

Europe PubMed Central

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4 November 2019

Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location

1 reference

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7 April 2017

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

2 references

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7 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Direct binding of G-protein betagamma complex to voltage-dependent calcium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 2017

The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 2017

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

1 reference

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7 April 2017

Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 2017

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 2017

Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 2017

Nitrendipine block of cardiac calcium channels: high-affinity binding to the inactivated state

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 2017

Primary structure of the receptor for calcium channel blockers from skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

7 April 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=1716149

7 April 2017

Crosstalk between G proteins and protein kinase C mediated by the calcium channel alpha1 subunit.

1 reference

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28 September 2017

Dystrophin-glycoprotein complex: molecular organization and critical roles in skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Biochemical evidence for a complex involving dihydropyridine receptor and ryanodine receptor in triad junctions of skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Cloning and characterization of a calcium channel alpha 1 subunit from Drosophila melanogaster with similarity to the rat brain type D isoform.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

A rapid method for the purification of DNA from blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Standardization of the caffeine halothane muscle contracture test. North American Malignant Hyperthermia Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Subunits of purified calcium channels: a 212-kDa form of alpha 1 and partial amino acid sequence of a phosphorylation site of an independent beta subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Structure and function of voltage-sensitive ion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Calcium channels from Cyprinus carpio skeletal muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Characterization of the two size forms of the alpha 1 subunit of skeletal muscle L-type calcium channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 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=1716149

30 May 2018

Restoration of junctional tetrads in dysgenic myotubes by dihydropyridine receptor cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

30 May 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=1716149

30 May 2018

Regions of the skeletal muscle dihydropyridine receptor critical for excitation-contraction coupling.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

30 May 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=1716149

30 May 2018

High-resolution physical mapping of four microsatellite repeat markers near the RYR1 locus on chromosome 19q13.1 and apparent exclusion of the MHS locus from this region in two malignant hyperthermia susceptible families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

30 May 2018

Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

30 May 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=1716149

28 November 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=1716149

28 November 2018

Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716149

28 November 2018

Malignant hyperthermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of 1,4-dihydropyridine binding domains within the primary structure of the alpha 1 subunit of the skeletal muscle L-type calcium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calcium channel β-subunit binds to a conserved motif in the I–II cytoplasmic linker of the α1-subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant hyperthermia in a patient with hypokalemic periodic paralysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A two-motif isoform of the major calcium channel subunit in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/9199552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

1 reference

https://api.crossref.org/works/10.1086%2F515454

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F515454

7 January 2021

based on heuristic

inferred from DOI database lookup

A calcium channel mutation causing hypokalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1086%2F515454

7 January 2021

based on heuristic

inferred from DOI database lookup

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1 reference

Europe PubMed Central

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4 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199552%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199552%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

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