Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.

scientific article published in April 2017

Assessing the pathogenicity of RYR1 variants in malignant hyperthermia. is …
instance of (P31):
scholarly articleQ13442814

External links are
P5530Altmetric DOI10.1093/BJA/AEX042
P6179Dimensions Publication ID1083930721
P356DOI10.1093/BJA/AEX042
P953full work available at URLhttp://eprints.whiterose.ac.uk/110663
P6366Microsoft Academic ID2606831988
P932PMC publication ID6906626
P698PubMed publication ID28403410
P1154Scopus EID2-s2.0-85019183680

P2093author name stringD M Miller
P D Allen
C Daly
P M Hopkins
A Merritt
D S Steele
P Booms
M-A Shaw
J G Bilmen
K M Stowell
P2860cites workStac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathyQ24294570
The presence of a functional t-tubule network increases the sensitivity of RyR1 to agonists in skinned rat skeletal muscle fibresQ28579811
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibilityQ29871451
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia familiesQ30426901
Using exome data to identify malignant hyperthermia susceptibility mutationsQ30689554
The role of CACNA1S in predisposition to malignant hyperthermiaQ33510262
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptorQ34252541
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.Q34327401
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermiaQ34669941
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat IllnessQ35756769
Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptorQ36436381
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core diseaseQ36460971
Mutations in RYR1 in malignant hyperthermia and central core diseaseQ36569488
Malignant hyperthermia: pharmacology of triggeringQ37882233
A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a familyQ38494827
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia.Q39266388
Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.Q39704856
Increasing the number of diagnostic mutations in malignant hyperthermia.Q39887727
A tunable genetic switch based on RNAi and repressor proteins for regulating gene expression in mammalian cellsQ40100735
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.Q40984666
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 diseaseQ41087094
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesQ41996021
Genetic variation in RYR1 and malignant hyperthermia phenotypesQ43300337
Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.Q43748398
Several interacting genes influence the malignant hyperthermia phenotype.Q44274839
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Q44407009
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube modelQ44946701
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibilityQ47674224
Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.Q47933738
Multiple interacting gene products may influence susceptibility to malignant hyperthermia.Q51354595
An analysis of the predictive probability of the in vitro contracture test for determining susceptibility to malignant hyperthermia.Q51547927
Creating random mutagenesis libraries using megaprimer PCR of whole plasmidQ78565940
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cellsQ86267085
P4510describes a project that usesImageJQ1659584
P433issue4
P407language of work or nameEnglishQ1860
P1104number of pages11
P304page(s)533-543
P577publication date2017-04-01
P1433published inBritish Journal of AnaesthesiaQ72466
P1476titleAssessing the pathogenicity of RYR1 variants in malignant hyperthermia
P478volume118

Reverse relations

cites work (P2860)
Q90717797Abnormal calcium signalling and the caffeine-halothane contracture test
Q41781551Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
Q59882254Genetic epidemiology of malignant hyperthermia in the UK
Q57640462Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Q90426273Junctional membrane Ca2+ dynamics in human muscle fibers are altered by malignant hyperthermia causative RyR mutation
Q94544834Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019
Q64267769The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

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