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DNA Testing for Malignant Hyperthermia: The Reality and the Dream

Anesthesia and analgesia, 2014-02, Vol.118 (2), p.397-406

Stowell, Kathryn M

2014

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Malignant hyperthermia: a pharmacogenetic disorder

Pharmacogenomics, 2008-11, Vol.9 (11), p.1657-1672

Stowell, Kathryn M

2008

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Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

Anesthesiology (Philadelphia), 2010-06, Vol.112 (6), p.1350-1354

2010

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Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System

Analytical biochemistry, 2008-03, Vol.374 (2), p.396-404

2008

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A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden

American journal of human genetics, 2013-03, Vol.92 (3), p.460-467

2013

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Masseter muscle rigidity and the role of DNA analysis to confirm malignant hyperthermia susceptibility

Anaesthesia and intensive care, 2019-01, Vol.47 (1), p.60-68

2019

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Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia

Orphanet journal of rare diseases, 2010-05, Vol.5 (1), p.10-10, Article 10

2010

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Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia

British journal of anaesthesia : BJA, 2022-12, Vol.129 (6), p.879-888

2022

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GcSTUA, an APSES transcription factor, is required for generation of appressorial turgor pressure and full pathogenicity of Glomerella cingulata

Molecular plant-microbe interactions, 2007-09, Vol.20 (9), p.1102-1111

2007

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Identification and Biochemical Characterization of a Novel Ryanodine Receptor Gene Mutation Associated with Malignant Hyperthermia

Anesthesiology (Philadelphia), 2008-02, Vol.108 (2), p.208-215

2008

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Skeletal Muscle Ryanodine Receptor Mutations Associated with Malignant Hyperthermia Showed Enhanced Intensity and Sensitivity to Triggering Drugs when Expressed in Human Embryonic Kidney Cells

Anesthesiology (Philadelphia), 2013-07, Vol.119 (1), p.111-118

2013

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Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility

Cell calcium (Edinburgh), 2014-09, Vol.56 (3), p.195-201

2014

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Metabolite profiling and quantification of phytochemicals in potato extracts using ultra-high-performance liquid chromatography-mass spectrometry

Journal of the science of food and agriculture, 2013-12, Vol.93 (15), p.3801-3808

2013

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Treatment with the PARP-inhibitor PJ34 causes enhanced doxorubicin-mediated cell death in HeLa cells

Anti-cancer drugs, 2012-07, Vol.23 (6), p.627-637

2012

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Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia

Journal of neuromuscular diseases, 2020-01, Vol.7 (1), p.51-60

2020

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Functional Characterization of 2 Known Ryanodine Receptor Mutations Causing Malignant Hyperthermia

Anesthesia and analgesia, 2014-02, Vol.118 (2), p.375-380

2014

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Expression and role in glycolysis of human ADP-dependent glucokinase

Molecular and cellular biochemistry, 2012-05, Vol.364 (1-2), p.131-145

2012

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Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

Journal of neuromuscular diseases, 2017, Vol.4 (2), p.147-158

2017

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Recovery from Hemophilia B. Leyden: An Androgen-Responsive Element in the Factor IX Promoter

Science (American Association for the Advancement of Science), 1992-07, Vol.257 (5068), p.377-379

1992

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Differential regulation of DNA repair protein Rad51 in human tumour cell lines exposed to doxorubicin

Anti-cancer drugs, 2007-04, Vol.18 (4), p.419-425

2007

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Down-regulation of human topoisomerase IIα expression correlates with relative amounts of specificity factors Sp1 and Sp3 bound at proximal and distal promoter regions

BMC molecular biology, 2007-05, Vol.8 (1), p.36-36, Article 36

2007

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A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

Human molecular genetics, 2000-06, Vol.9 (10), p.1515-1524

2000

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Modulation of DNA topoisomerase II alpha promoter activity by members of the Sp (specificity protein) and NF-Y (nuclear factor Y) families of transcription factors

Biochemical journal, 2003-09, Vol.374 (Pt 3), p.723-729

2003

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Quantification of DNA by agarose gel electrophoresis and analysis of the topoisomers of plasmid and M13 DNA following treatment with a restriction endonuclease or DNA topoisomerase I

Biochemistry and molecular biology education, 2005-01, Vol.33 (1), p.28-33

2005

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Down-regulation of human topoisomerase IIα correlates with altered expression of transcriptional regulators NF-YA and Sp1

Anti-cancer drugs, 2004-04, Vol.15 (4), p.357-362

2004

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DNA Testing for Malignant Hyperthermia: The Reality and the Dream

Malignant hyperthermia: a pharmacogenetic disorder

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System

A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden

Masseter muscle rigidity and the role of DNA analysis to confirm malignant hyperthermia susceptibility

Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia

Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia

GcSTUA, an APSES transcription factor, is required for generation of appressorial turgor pressure and full pathogenicity of Glomerella cingulata

Identification and Biochemical Characterization of a Novel Ryanodine Receptor Gene Mutation Associated with Malignant Hyperthermia

Skeletal Muscle Ryanodine Receptor Mutations Associated with Malignant Hyperthermia Showed Enhanced Intensity and Sensitivity to Triggering Drugs when Expressed in Human Embryonic Kidney Cells

Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility

Metabolite profiling and quantification of phytochemicals in potato extracts using ultra-high-performance liquid chromatography-mass spectrometry

Treatment with the PARP-inhibitor PJ34 causes enhanced doxorubicin-mediated cell death in HeLa cells

Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia

Functional Characterization of 2 Known Ryanodine Receptor Mutations Causing Malignant Hyperthermia

Expression and role in glycolysis of human ADP-dependent glucokinase

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia

Recovery from Hemophilia B. Leyden: An Androgen-Responsive Element in the Factor IX Promoter

Differential regulation of DNA repair protein Rad51 in human tumour cell lines exposed to doxorubicin

Down-regulation of human topoisomerase IIα expression correlates with relative amounts of specificity factors Sp1 and Sp3 bound at proximal and distal promoter regions

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

Modulation of DNA topoisomerase II alpha promoter activity by members of the Sp (specificity protein) and NF-Y (nuclear factor Y) families of transcription factors

Quantification of DNA by agarose gel electrophoresis and analysis of the topoisomers of plasmid and M13 DNA following treatment with a restriction endonuclease or DNA topoisomerase I

Down-regulation of human topoisomerase IIα correlates with altered expression of transcriptional regulators NF-YA and Sp1

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