Blar i HVL Open på forfatter "Bjørkhaug, Lise"

Viser treff 1-12 av 12

    • Acute response in circulating microRNAs following a single bout of short-sprint and heavy strength training in well-trained cyclists 

      Ryningen, Anita; Rostad, Kari; Ersvær, Elisabeth; Sjøholt, Gry; Paulsen, Gøran; Gundersen, Hilde; Kristoffersen, Morten; Bjørkhaug, Lise (Peer reviewed; Journal article, 2024)
      Background: Heavy strength (HS) and short-sprint (SS) are commonly used training methods for competitive road cyclists, with the aim to improve the anaerobic power and short time cycling performance. Knowledge of how such ...

    • Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes 

      Svalastoga, Pernille; Kaci, Alba; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Krogvold, Lars; Skrivarhaug, Torild; Valen, Eivind; Johansson, Stefan; Molven, Anders; Sagen, Jørn Vegard; Søfteland, Eirik; Bjørkhaug, Lise; Tjora, Erling; Aukrust, Ingvild; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2023)
      Aims/hypothesis Correctly diagnosing MODY is important, as individuals with this diagnosis can discontinue insulin injections; however, many people are misdiagnosed. We aimed to develop a robust approach for determining ...

    • The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations 

      Stalbow, Lauren; Preuss, Michael H.; Smit, Roelof A.J.; Chami, Nathalie; Bjørkhaug, Lise; Aukrust, Ingvild; Gloyn, Anna L; Loos, Ruth J.F. (Peer reviewed; Journal article, 2022)
      Aims/hypothesis We examined the contribution of rare HNF1A variants to type 2 diabetes risk and age of diagnosis, and the extent to which their impact is affected by overall genetic susceptibility, across three ancestry ...

    • 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 ...

    • Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects 

      Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine; Hjaltadottir, Jorunn; Hornnes, Lorentze Hope; Molnes, Janne; Madsen, Andre Greger; Sjøholt, Gry; Bellanne-Chantelot, Christine; Caswell, Richard; Sagen, Jørn Vegard; Njølstad, Pål Rasmus; Aukrust, Ingvild; Bjørkhaug, Lise (Peer reviewed; Journal article, 2024)
      Hepatocyte nuclear factor-4 alpha (HNF-4A) regulates genes with roles in glucose metabolism and β-cell development. Although pathogenic HNF4A variants are commonly associated with maturity-onset diabetes of the young (MODY1; ...

    • 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) ...

    • A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland 

      Thuesen, Anne Cathrine; Stæger, Fredrik Filip; Kaci, Alba; Solheim, Marie Holm; Aukrust, Ingvild; Jørsboe, Emil; Santander, Cindy G.; Andersen, Mette; Li, Zilong; Gilly, Arthur; Stinson, Sara Elizabeth; Gjesing, Anette Prior; Bjerregaard, Peter; Pedersen, Michael Lynge; Larsen, Christina Viskum Lytken; Grarup, Niels; Jørgensen, Marit E.; Zeggini, Eleftheria; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Albrechtsen, Anders; Moltke, Ida; Hansen, Torben (Peer reviewed; Journal article, 2023)
      Background The genetic disease architecture of Inuit includes a large number of common high-impact variants. Identification of such variants contributes to our understanding of the genetic aetiology of diseases and improves ...

    • Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants 

      Kind, Laura; Raasakka, Arne; Molnes, Janne; Aukrust, Ingvild; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Kursula, Petri; Arnesen, Thomas (Peer reviewed; Journal article, 2022)
      Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating the expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause ...

    • 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), ...