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FEBS Open Bio|February 9, 2017
Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexesIngvild Aukrust, Linn Andersen Rosenberg, Mia Madeleine Ankerud, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbanceSiren Berland, Trine L Toft-Bertelsen, Ingvild Aukrust, et al.
The Journal of Clinical Endocrinology and Metabolism|February 5, 2020
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence VariantsJana Malikova, Alba Kaci, Petra Dusatkova, et al.
Diabetologia|October 10, 2022
The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populationsLauren A Stalbow, Michael H Preuss, Roelof A J Smit, et al.
Diabetes|December 1, 2016
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General PopulationLaeya Abdoli Najmi, Ingvild Aukrust, Jason Flannick, et al.
Acta Ophthalmologica|October 25, 2016
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein levelIngvild Aukrust, Ragnhild W Jansson, Cecilie Bredrup, et al.
Case Reports in Ophthalmology|October 9, 2025
Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case ReportsSigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, et al.
Biochimica Et Biophysica Acta|July 24, 2012
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradationMaria Negahdar, Ingvild Aukrust, Bente B Johansson, et al.
JPGN Reports|September 23, 2022
Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (SLC51A) ExpressionRune Rose Tronstad, Siren Berland, Erling Tjora, et al.
Frontiers in Molecular Neuroscience|October 11, 2021
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in ZebrafishYasaman Pakdaman, Elsa Denker, Eirik Austad, et al.
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