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The role of CACNA1S in predisposition to malignant hyperthermia

The role of CACNA1S in predisposition to malignant hyperthermia

http://www.wikidata.org/entity/Q33510262

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Pharmacogenetics and anaesthetic drugs: Implications for perioperative practice PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics Malignant hyperthermia: a review Ca(V)1.1: The atypical prototypical voltage-gated Ca²⁺ channel PharmGKB summary: very important pharmacogene information for RYR1 Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Genome-wide association study identifies four loci associated with eruption of permanent teeth.Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Orthograde dihydropyridine receptor signal regulates ryanodine receptor passive leak A hybrid computational method for the discovery of novel reproduction-related genes.Special article: Future directions in malignant hyperthermia research and patient care Triadopathies: an emerging class of skeletal muscle diseases.Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage Antioxidants protect calsequestrin-1 knockout mice from halothane- and heat-induced sudden death.Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.Dantrolene-induced inhibition of skeletal L-type Ca2+ current requires RyR1 expression.Impaired gating of an L-Type Ca(2+) channel carrying a mutation linked to malignant hyperthermia.Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.Core myopathies and malignant hyperthermia susceptibility: a review.Malignant hyperthermia, a Scandinavian update.Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility.Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation.The severity of sevoflurane-induced malignant hyperthermia.A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.Mechanisms Responsible for ω-Pore Currents in Cav Calcium Channel Voltage-Sensing Domains.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.

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The role of CACNA1S in predisposition to malignant hyperthermia

http://www.wikidata.org/entity/Q33510262

description

2009 nî lūn-bûn

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2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

The role of CACNA1S in predisposition to malignant hyperthermia

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The role of CACNA1S in predisposition to malignant hyperthermia

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The role of CACNA1S in predisposition to malignant hyperthermia

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The role of CACNA1S in predisposition to malignant hyperthermia

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The role of CACNA1S in predisposition to malignant hyperthermia

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The role of CACNA1S in predisposition to malignant hyperthermia

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1471-2350-10-104

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BMC Medical Genetics

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The role of CACNA1S in predisposition to malignant hyperthermia

@en

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Andrew Morris

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Christopher Ringrose

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Danielle Carpenter

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Marie-Anne Shaw

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P Jane Halsall

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Philip M Hopkins

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Rachel L Robinson

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Vincenzo Leo

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P2860

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

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

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

A New Statistical Method for Haplotype Reconstruction from Population Data

Haploview: analysis and visualization of LD and haplotype maps

Identification of new polymorphisms in the CACNA1S gene

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

A calcium channel mutation causing hypokalemic periodic paralysis

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

Correlating phenotype and genotype in the periodic paralyses

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