Errata

• Semple, Robert K.; Patel, Kashyap A.; Auh, Sungyoung et al. (2024). Correction to: Genotype-stratified treatment for monogenic insulin resistance: a systematic review (Communications Medicine, (2023), 3, 1, (134), 10.1038/s43856-023-00368-9). (external link)

Academic article

• Naylor, Rochelle N.; Patel, Kashyap A.; Kettunen, Jarno L. T. et al. (2024). Precision treatment of beta-cell monogenic diabetes: a systematic review. (external link)
• Ahmad, Abrar; Lim, Lee-Ling; Morieri, Mario Luca et al. (2024). Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis. (external link)
• Felton, Jamie L.; Redondo, Maria J.; Oram, Richard A. et al. (2024). Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review. (external link)
• Karimi, Karim; Weis, Denisa; Aukrust, Ingvild et al. (2024). Epigenomic and phenotypic characterization of DEGCAGS syndrome. (external link)
• Semnani-Azad, Zhila; Gaillard, Romy; Hughes, Alice E. et al. (2024). Precision stratification of prognostic risk factors associated with outcomes in gestational diabetes mellitus: a systematic review. (external link)
• Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine et al. (2024). Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. (external link)
• Takele, Wubet Worku; Vesco, Kimberly K.; Josefson, Jami et al. (2024). Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis. (external link)
• Aslaksen, Sigrid; Aukrust, Ingvild; Molday, Laurie et al. (2024). Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies. (external link)
• Houge, Gunnar Douzgos; Bratland, Eirik; Aukrust, Ingvild et al. (2024). Comparison of the ABC and ACMG systems for variant classification. (external link)
• Tobias, Deirdre K.; Merino, Jordi; Ahmad, Abrar et al. (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. (external link)
• Larasati, Yonika A.; Solis, Gonzalo P.; Koval, Alexey et al. (2023). Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. (external link)
• Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg et al. (2023). Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. (external link)
• Thuesen, Anne Cathrine; Stæger, Fredrik Filip; Kaci, Alba et al. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. (external link)
• Svalastoga, Pernille; Kaci, Alba; Molnes, Janne et al. (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. (external link)
• Bassi, Nicola; Hovland, Henrikke; Rasheed, Kashif et al. (2023). Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. (external link)
• Stalbow, Lauren; Preuss, Michael H.; Smit, Roelof A.J. et al. (2022). The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations. (external link)
• Kind, Laura; Raasakka, Arne; Molnes, Janne et al. (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. (external link)
• Hovland, Henrikke Nilsen; Al-Adhami, Rafal Isam Fatoohi; Ariansen, Sarah Louise et al. (2022). BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. (external link)
• Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J. et al. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. (external link)
• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (external link)
• Cristea, Ileana; Bruland, Ove; Aukrust, Ingvild et al. (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. (external link)
• Malikova, Jana; Kaci, Alba; Dusatkova, Petra et al. (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. (external link)
• Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J. et al. (2020). Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. (external link)
• Castilla-Vallmanya, Laura; Selmer, Kaja Kristine; Dimartino, Clémantine et al. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. (external link)
• Velasco Pinto, Kelly; St-Louis, Johanna Lüdeke; Hovland, Henrikke Nilsen et al. (2020). Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. (external link)
• Holtan, Josephine Prener; Aukrust, Ingvild; Jansson, Ragnhild Wivestad et al. (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. (external link)
• Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild et al. (2019). Dominant ARL3-related retinitis pigmentosa. (external link)
• Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm et al. (2018). The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. (external link)
• Berland, Siren; Toft-Bertelsen, Trine; Aukrust, Ingvild et al. (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 disturbance. (external link)
• Hamanaka, Kohei; Sugawara, Yuji; Shimoji, Takeyoshi et al. (2018). De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. (external link)
• Mc Tiernan, Nina; Støve, Svein Isungset; Aukrust, Ingvild et al. (2018). NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report. (external link)
• Johansson, Bente Berg; Fjeld, Karianne; Solheim, Marie Holm et al. (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (external link)
• Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune et al. (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. (external link)
• Najmi, Laeya Abdoli; Aukrust, Ingvild; Flannick, Jason et al. (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. (external link)
• Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild et al. (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (external link)
• Aukrust, Ingvild; Rosenberg, Linn Andersen; Ankerud, Mia Madeleine et al. (2017). Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes. (external link)
• Johansson, Bente Berg; Irgens, Henrik Underthun; Molnes, Janne et al. (2017). Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. (external link)
• Storbeck, Markus; Eriksen, Beate Horsberg; Unger, Andreas et al. (2017). Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. (external link)
• Lek, M; Aggregation Consortium, Exome; Njølstad, Pål Rasmus et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans.. (external link)
• Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie et al. (2016). The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. (external link)
• Rozenkova, Klara; Malikova, Jana; Nessa, Azizun et al. (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. (external link)
• Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise et al. (2014). Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. (external link)
• Negahdar, Maria; Aukrust, Ingvild; Molnes, Janne et al. (2014). GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. (external link)
• Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (external link)
• Aukrust, Ingvild; Bjørkhaug, Lise; Negahdar, Maria et al. (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. (external link)
• Negahdar, Maria; Aukrust, Ingvild; Johansson, Bente Berg et al. (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. (external link)
• Molnes, Janne; Teigen, Knut; Aukrust, Ingvild et al. (2011). Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. (external link)
• Aukrust, Ingvild; Hollås, Hanne; Strand, Elin et al. (2007). The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV. (external link)
• Hollås, Hanne; Aukrust, Ingvild; Grimmer, Stine et al. (2006). Annexin A2 recognises a specific region in the 3 '-UTR of its cognate messenger RNA. (external link)
• Aukrust, Ingvild; Evensen, Lasse; Hollås, Hanne et al. (2006). Engineering, biophysical characterisation and binding properties of a soluble mutant form of annexin A2 domain IV that adopts a partially folded conformation. (external link)
• Lauvrak, Silje Anett Ugland; Hollås, Hanne; Døskeland, Anne Paulus et al. (2005). Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction. (external link)

Academic literature review

• Gundersen, Lise Bjørkhaug; Aukrust, Ingvild (2022). Diabetes mellitus – analyser av genvarianter assosiert med subtyper av Maturity-Onset Diabetes of the Young (MODY). (external link)

Short communication

• Bina, Roya; Matalon, Dena; Fregeau, Brieana et al. (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. (external link)

Poster

• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2020). Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.. (external link)
• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2020). Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.. (external link)
• Kaci, Alba; Aukrust, Ingvild; Bjørkhaug, Lise et al. (2019). Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics. (external link)
• Pakdaman, Yasaman; Austad, Eirik; Denker, Elsa et al. (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. (external link)
• Bjørkhaug, Lise; Kaci, Alba; Keindl, Magdalena et al. (2018). The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1. (external link)
• Bjørkhaug, Lise; Aukrust, Ingvild; Kaci, Alba et al. (2018). Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics. (external link)
• Strand, Elin; Hollås, Hanne; Aukrust, Ingvild et al. (2007). The Effect of the Binding of Annexin A2 to the Untranslated Regions of c-myc mRNA on the in vitro Translation of Reporter Protein. (external link)
• Strand, Elin; Aukrust, Ingvild; Hollås, Hanne et al. (2006). Engineering of mRNA chimeras to study the role of Annexin A2 in c-myc mRNA translation. (external link)
• Lauvrak, Silje Ugland; Hollås, Hanne; Bertelsen, Vibeke et al. (2003). Ubiquitin conjugates of annexin 2 are enriched in cytoskeleton-associated messenger ribonucleoprotein complexes. (external link)

Academic lecture

• Kaci, Alba; Aukrust, Ingvild; Njølstad, Pål Rasmus et al. (2019). Functional characterization of diabetes gene variants is important for precision medicine . (external link)

Doctoral dissertation

• Kaci, Alba; Aukrust, Ingvild (2019). Precision medicine in MODYdiabetes: Unraveling the disease causality of gene variants and new regulatory mechanisms . (external link)
• Aukrust, Ingvild (2007). Annexin A2 as an mRNA-binding protein. (external link)

Thesis at a second degree level

• Aukrust, Ingvild (2002). Studies on the binding of heparin, anxA2 mRNA and F-actin to heterotetrameric annexin A2 (anxA2^2 p11^2) and its recombinant forms. VIII, 150 bl. (external link)

See a complete overview of publications in Cristin.