• The Female Menstrual Cycles Effect on Strength and Power Parameters in High-Level Female Team Athletes 

      Dasa, Marcus Småvik; Kristoffersen, Morten; Ersvær, Elisabeth; Bovim, Lars Peder Vatshelle; Bjørkhaug, Lise; Moe-Nilssen, Rolf; Sagen, Jørn Vegard; Haukenes, Inger (Peer reviewed; Journal article, 2021)
      Purpose: The female menstrual cycle (MC) is characterized by hormonal fluctuations throughout its different phases. However, research regarding its effect on athletic performance in high level athletes is sparse. The aim ...
    • Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants 

      Malikova, Jana; Kaci, Alba; Dusatkova, Petra; Aukrust, Ingvild; Torsvik, Janniche; Vesela, Klara; Kankova, Pavla; Njølstad, Pål Rasmus; Pruhova, Stepanka; Bjørkhaug, Lise (Peer reviewed; Journal article, 2020)
      Context While rare variants of the hepatocyte nuclear factor-1 alpha (HNF1A) gene can cause maturity-onset diabetes of the young (HNF1A-MODY), other variants can be risk factors for the development of type 2 diabetes. As ...
    • In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins 

      Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2017)
      Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin E3 ligase and dimeric co-chaperone C-terminus ...
    • Incidence of HNF1A and GCK MODY Variants in a South African Population 

      Matsha, Tandi E; Raghubeer, Shanel; Tshivhase, Abegail M; Davids, Saarah FG; Hon, Gloudina M; Bjørkhaug, Lise; Erasmus, Rajiv T (Journal article; Peer reviewed, 2020)
      Background and Aim: Maturity-onset diabetes of the young (MODY) is the result of single gene variants. To date, fourteen different MODY subtypes have been described. Variants in genes coding for glucokinase (GCK, MODY2) ...
    • The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a 

      Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Aukrust, Ingvild (Journal article; Peer reviewed, 2018)
      The transcription factor hepatocyte nuclear factor-1α (HNF-1A) is involved in normal pancreas development and function. Rare variants in the HNF1A gene can cause monogenic diabetes, while common variants confer type 2 ...
    • Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation 

      Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J.; Aukrust, Ingvild; Rundle, Jana K.; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; van der Lugt, Timme; Hassanali, Neelam; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I.; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L. (Peer reviewed; Journal article, 2020)
      Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), ...