Blar i HVL Open på forfatter "Solheim, Marie Holm"

Viser treff 1-4 av 4

    • 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 ...

    • 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; ...

    • 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 ...

    • 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 ...