Blar i Bergen Open Research Archive på forfatter "Ottesen, Åsta"
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BRCA1 promoter methylation: the influence on gene expression and the effect of long term drug treatment
Ottesen, Åsta (Master thesis, 2017-07-04)Breast cancer is the most common type of cancer among woman all over the world, with over 1.67 million new cases in 2012. Heritable breast cancer is closely linked to mutations in the tumor suppressor gene BRCA1, with up ... -
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro
Velasco Pinto, Kelly; St-Louis, Johanna; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders (Journal article; Peer reviewed, 2021)Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ...