Search Results - "STOWELL, K. M"
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Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
Published in British journal of anaesthesia : BJA (01-07-2016)“…Malignant hyperthermia (MH) is a pharmacogenetic disorder that has been linked to the skeletal muscle calcium release channel (RYR1) and the α1S subunit of the…”
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Administration of anaesthetic triggering agents to patients tested malignant hyperthermia normal and their relatives in New Zealand: An update
Published in Anaesthesia and intensive care (01-09-2017)“…Testing for malignant hyperthermia in New Zealand involves two tests-in vitro contracture testing of excised lateral quadriceps muscle and DNA analysis. In…”
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3
Safety of exposure of malignant hyperthermia non-susceptible patients and their relatives to anaesthetic triggering agents
Published in Anaesthesia and intensive care (01-09-2011)“…As the reliability of malignant hyperthermia normal in vitro contracture test results has been questioned, this study set out to determine the reliability of…”
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4
Malignant hyperthermia in infancy and identification of novel RYR1 mutation
Published in British journal of anaesthesia : BJA (01-04-2000)“…Malignant hyperthermia (MH) has been reported as non-existent in children less than 1 yr old, although several unconfirmed reports have been published. A case…”
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Neospora caninum: Quantification of DNA in the blood of naturally infected aborted and pregnant cows using real-time PCR
Published in Experimental parasitology (01-05-2005)“…This study quantified Neospora caninum DNA in the blood and brain of pregnant and aborted heifers by monitoring PCR product formation in real-time using SYBR…”
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6
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia
Published in British journal of anaesthesia : BJA (01-04-2017)“…Missense variants in the ryanodine receptor 1 gene (RYR1) are associated with malignant hyperthermia but only a minority of these have met the criteria for use…”
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7
The use of PCR to detect Neospora caninum DNA in the blood of naturally infected cows
Published in Veterinary parasitology (06-08-2004)“…Twelve 2-year old heifers in their fifth month of gestation when pregnancy tested were used in this study. Six heifers aborted at approximately 4 months of…”
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A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree
Published in Human molecular genetics (12-06-2000)“…Malignant hyperthermia (MH) is a pharmacogenetic disorder that predisposes to a sometimes fatal hypermetabolic reaction to halogenated anaesthetics. MH is…”
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9
Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia
Published in British journal of anaesthesia : BJA (01-01-2013)“…Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder in which intracellular calcium homeostasis in the skeletal muscle of susceptible…”
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10
Suspected Malignant Hyperthermia reactions in New Zealand
Published in Anaesthesia and intensive care (01-08-2002)“…Early clinical signs, triggering agents, time to onset of reaction, mortality and methods of treatment were identified in 123 suspected malignant hyperthermia…”
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Safe duration of postoperative monitoring for malignant hyperthermia patients administered non-triggering anaesthesia: an update
Published in Anaesthesia and intensive care (01-01-2015)“…The postoperative care of malignant hyperthermia (MH) patients is subject to international variation, with a paucity of data in the literature to guide…”
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12
Evidence of Malignant Hyperthermia in Patients Administered Triggering Agents before Malignant Hyperthermia Susceptibility Identified: Missed Opportunities Prior to Diagnosis
Published in Anaesthesia and intensive care (01-11-2017)“…Malignant hyperthermia (MH) is a hypermetabolic disorder of skeletal muscle triggered almost exclusively by potent inhalational agents and suxamethonium. Signs…”
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13
Isolation and molecular characterisation of Neospora caninum in cattle in New Zealand
Published in New Zealand veterinary journal (01-12-2004)“…AIM: To isolate Neospora caninum from the brains of naturally infected cattle and use molecular techniques to characterise the isolates. METHODS: Neospora…”
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14
Recognition patterns of Neospora caninum tachyzoite antigens by bovine IgG at different IFAT titres
Published in Parasite immunology (01-04-2004)“…SUMMARY This study describes qualitative and quantitative antibody response in cows naturally infected with Neospora caninum. The study was carried out with…”
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15
Recovery from Hemophilia B. Leyden: An Androgen-Responsive Element in the Factor IX Promoter
Published in Science (American Association for the Advancement of Science) (17-07-1992)“…One form of the inherited, X-linked, bleeding disorder, hemophilia B, resolves after puberty. Mutations at -20 and -26 in the clotting factor IX promoter…”
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16
Studies of the N-terminal half of human lactoferrin produced from the cloned cDNA demonstrate that interlobe interactions modulate iron release
Published in The Journal of biological chemistry (15-07-1992)“…The factors influencing iron binding and release by lactoferrin have been addressed by comparison of the native full length molecule (Lf) with the N-terminal…”
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Expression of cloned human lactoferrin in baby-hamster kidney cells
Published in Biochemical journal (01-06-1991)“…Human lactoferrin was expressed from a cloned cDNA introduced into mammalian cells in tissue culture. Total RNA was extracted from human bone marrow, and…”
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18
DNA analysis and malignant hyperthermia susceptibility
Published in Anaesthesia and intensive care (01-05-2008)Get full text
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19
Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter
Published in British journal of haematology (01-09-1993)“…We report a Lancashire family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter. This mutation has been reported…”
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20
The assessment of viability in isolated rat hepatocytes
Published in Analytical biochemistry (01-01-1992)“…Isolated rat hepatocytes are used in many metabolic studies, but the viability of these cell preparations is often not adequately established. The present…”
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