| 1. |
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här ute, där inne : In Here Out There
- 2014
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Samlingsverk (redaktörskap) (övrigt vetenskapligt/konstnärligt)abstract
- Sommaren 2012 slogs fyra konstnärliga institutioner vid Göteborgs universitet samman och bildade Akademin Valand. Fr o m 2014 ges en årlig publikation ut. Publikationen här ute, där inne består av texter, visuella gestaltningar, dokumentationer, fragment och utsnitt ur pågående forskningsprojekt. Bidragen är redaktionellt utvalda och kommer från studenter, lärare och forskare vid institutionen.
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| 2. |
- Broman, Marcus, et al.
(författare)
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Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
- 2011
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Ingår i: Anesthesia and Analgesia. - 1526-7598. ; 113:5, s. 1120-1128
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Tidskriftsartikel (refereegranskat)abstract
- A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodine receptor 1 gene (RYR1). Genetic diagnosis has an advantage over IVCT because it is less invasive. Direct sequencing of the very large RYR1 coding region (15.117 bases) is a laborious and expensive task. In this study, we applied the High Resolution Melting (HRM) curve analysis as a tool to screen the entire coding region of the gene.
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| 3. |
- Vukcevic, Mirko, et al.
(författare)
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Functional Properties of RYR1 Mutations Identified in Swedish Patients with Malignant Hyperthermia and Central Core Disease
- 2010
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Ingår i: Anesthesia and Analgesia. - 1526-7598. ; 111:1, s. 185-190
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A diagnosis of malignant hyperthermia susceptibility by in vitro contraction testing can often only be performed at specialized laboratories far away from where patients live. Therefore, we have designed a protocol for genetic screening of the RYR1-cDNA and for functional testing of newly identified ryanodine receptor 1 (RYR1) gene variants in B lymphocytes isolated from peripheral blood samples drawn at local primary care centers. METHODS: B lymphocytes were isolated for the extraction of RYR1-mRNA and genomic DNA and for establishment of lymphoblastoid B cell lines in 5 patients carrying yet unclassified mutations in the RYR1. The B lymphoblastoid cell lines were used to study resting cytoplasmic calcium concentration, the peak calcium transient induced by the sarco(endo)plasmic reticulum Ca-ATPase inhibitor thapsigargin, and the dose-dependent calcium release induced by the ryanodine receptor agonist 4-chloro-m-cresol. RESULTS: It was possible to extract mRNA for cDNA synthesis and to create B lymphocyte clones from all samples. All B lymphoblastoid cell lines carrying RYR1 candidate mutations showed significantly increased resting cytoplasmic calcium levels as well as a shift to lower concentrations of 4-chloro-m-cresol inducing calcium release compared with controls. CONCLUSIONS: Peripheral blood samples are stable regarding RNA and DNA extraction and establishment of lymphoblastoid B cell lines after transportation at ambient temperature over large distances by ordinary mail. Functional tests on B cells harboring the newly identified amino acid substitutions indicate that they alter intracellular Ca2+ homeostasis and are most likely causative of malignant hyperthermia. (Anesth Analg 2010;111:185-90)
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