Browsing Bergen Open Research Archive by Author "Bjørkhaug, Lise"

Now showing items 1-10 of 10

    • Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population 

      Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise; Najmi, Laeya Abdoli; Njølstad, Pål Rasmus; MacArthur, Daniel G.; The SIGMA Type 2 Diabetes Consortium (Peer reviewed; Journal article, 2014-06)
      Importance: Latino populations have one of the highest prevalences of type 2 diabetes worldwide. Objectives: To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in ...

    • 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 (Journal article; Peer reviewed, 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. (Journal article; Peer reviewed, 2023)
      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 E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α 

      Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Aukrust, Ingvild (Peer reviewed; Journal article, 2018-08-24)
      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 ...

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

      Småvik Dasa, Marcus; Kristoffersen, Morten; Ersvær, Elisabeth; Bovim, Lars Peder Vatshelle; Bjørkhaug, Lise; Moe-Nilssen, Rolf; Sagen, Jørn Vegard; Haukenes, Inger (Journal article; Peer reviewed, 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 ...

    • 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 (Peer reviewed; Journal article, 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 ...

    • 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 (Journal article; Peer reviewed, 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 (Journal article; Peer reviewed, 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 ...

    • STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity 

      Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A.; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M. E.; Knappskog, Per; Johansson, Stefan (Peer reviewed; Journal article, 2014-09-26)
      Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...

    • 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. (Journal article; Peer reviewed, 2020-10-01)
      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), ...