Vitenskapelig artikkel

• Abrar Ahmad; Lee-Ling Lim; Mario Luca Morieri et al. (2024). Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis. (ekstern lenke)
• Zhila Semnani-Azad; Romy Gaillard; Alice E. Hughes et al. (2024). Precision stratification of prognostic risk factors associated with outcomes in gestational diabetes mellitus: a systematic review. (ekstern lenke)
• Klara Rozenkova; Jana Malikova; Azizun Nessa et al. (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. (ekstern lenke)
• Laura Castilla-Vallmanya; Kaja Kristine Selmer; Clémantine Dimartino et al. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. (ekstern lenke)
• Stéphanie Moortgat; Siren Berland; Ingvild Aukrust et al. (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (ekstern lenke)
• Kelly Velasco Pinto; Johanna Lüdeke St-Louis; Henrikke Nilsen Hovland 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. (ekstern lenke)
• Josephine Prener Holtan; Ingvild Aukrust; Ragnhild Wivestad Jansson et al. (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. (ekstern lenke)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (ekstern lenke)
• Alba Kaci; Marie Holm Solheim; Trine Silgjerd et al. (2024). Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. (ekstern lenke)
• Pernille Svalastoga; Alba Kaci; Janne Molnes et al. (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. (ekstern lenke)
• Ingvild Aukrust; Ragnhild Wivestad Jansson; Cecilie Bredrup 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. (ekstern lenke)
• Josephine Prener Holtan; Knut Teigen; Ingvild Aukrust et al. (2019). Dominant ARL3-related retinitis pigmentosa. (ekstern lenke)
• Bente Berg Johansson; Henrik Underthun Irgens; Janne Molnes 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. (ekstern lenke)
• Anne Cathrine Thuesen; Fredrik Filip Stæger; Alba Kaci et al. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. (ekstern lenke)
• Roya Bina; Dena Matalon; Brieana Fregeau et al. (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. (ekstern lenke)
• Markus Storbeck; Beate Horsberg Eriksen; Andreas Unger et al. (2017). Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. (ekstern lenke)
• Silje Anett Ugland Lauvrak; Hanne Hollås; Anne Paulus Døskeland et al. (2005). Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction. (ekstern lenke)
• Karim Karimi; Denisa Weis; Ingvild Aukrust et al. (2024). Epigenomic and phenotypic characterization of DEGCAGS syndrome. (ekstern lenke)
• Ketil Riddervold Heimdal; Monica Sanchez Guixe; Ingvild Aukrust et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (ekstern lenke)
• Bente Berg Johansson; Karianne Fjeld; Marie Holm Solheim et al. (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (ekstern lenke)
• Deirdre K. Tobias; Jordi Merino; Abrar Ahmad et al. (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. (ekstern lenke)
• Hanne Hollås; Ingvild Aukrust; Stine Grimmer et al. (2006). Annexin A2 recognises a specific region in the 3 '-UTR of its cognate messenger RNA. (ekstern lenke)
• Kohei Hamanaka; Yuji Sugawara; Takeyoshi Shimoji et al. (2018). De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. (ekstern lenke)
• Laeya Abdoli Najmi; Ingvild Aukrust; Jason Flannick et al. (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. (ekstern lenke)
• Sigrid Aslaksen; Ingvild Aukrust; Laurie Molday et al. (2024). Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies. (ekstern lenke)
• Jana Malikova; Alba Kaci; Petra Dusatkova et al. (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. (ekstern lenke)
• Maria Negahdar; Ingvild Aukrust; Janne Molnes et al. (2014). GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. (ekstern lenke)
• Ingvild Aukrust; Lasse Evensen; Hanne Hollås 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. (ekstern lenke)
• Laura Kind; Arne Raasakka; Janne Molnes et al. (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. (ekstern lenke)
• Jessica A. Grieger; Wubet Worku Takele; Kimberly K. Vesco et al. (2025). Participant characteristics in the effectiveness of lifestyle interventions to optimize gestational weight gain: a systematic review and meta-analysis. (ekstern lenke)
• Nicola Bassi; Henrikke Hovland; Kashif Rasheed et al. (2023). Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. (ekstern lenke)
• Ingvild Aukrust; Linn Andersen Rosenberg; Mia Madeleine Ankerud et al. (2017). Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes. (ekstern lenke)
• Ingvild Aukrust; Lise Bjørkhaug; Maria Negahdar et al. (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. (ekstern lenke)
• Yonika A. Larasati; Gonzalo P. Solis; Alexey Koval et al. (2023). Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. (ekstern lenke)
• Maria Negahdar; Ingvild Aukrust; Bente Berg Johansson et al. (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. (ekstern lenke)
• Gunnar Douzgos Houge; Eirik Bratland; Ingvild Aukrust et al. (2024). Comparison of the ABC and ACMG systems for variant classification. (ekstern lenke)
• Nina Mc Tiernan; Svein Isungset Støve; Ingvild Aukrust 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. (ekstern lenke)
• Wubet Worku Takele; Kimberly K. Vesco; Jami Josefson et al. (2024). Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis. (ekstern lenke)
• Jamie L. Felton; Maria J. Redondo; Richard A. Oram et al. (2024). Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review. (ekstern lenke)
• Ingvild Aukrust; Hanne Hollås; Elin Strand et al. (2007). The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV. (ekstern lenke)
• Henrikke Nilsen Hovland; Rafal Isam Fatoohi Al-Adhami; Sarah Louise Ariansen 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. (ekstern lenke)
• Henrikke Nilsen Hovland; Eunice Kabanyana Mchaina; Hildegunn Høberg Vetti et al. (2023). Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. (ekstern lenke)
• Lauren Stalbow; Michael H. Preuss; Roelof A.J. Smit et al. (2022). The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations. (ekstern lenke)
• Yasaman Pakdaman; Monica Sanchez Guixe; Rune Kleppe et al. (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. (ekstern lenke)
• Janne Molnes; Knut Teigen; Ingvild Aukrust 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. (ekstern lenke)
• Alba Kaci; Magdalena Keindl; Marie Holm Solheim et al. (2018). The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. (ekstern lenke)
• Yasaman Pakdaman; Siren Berland; Helene J. Bustad 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. (ekstern lenke)
• Siren Berland; Trine Toft-Bertelsen; Ingvild Aukrust 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. (ekstern lenke)
• Rochelle N. Naylor; Kashyap A. Patel; Jarno L. T. Kettunen et al. (2024). Precision treatment of beta-cell monogenic diabetes: a systematic review. (ekstern lenke)
• Sara Althari; Laeya Abdoli Najmi; Amanda J. Bennett et al. (2020). Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. (ekstern lenke)
• M Lek; Exome Aggregation Consortium; Pål Rasmus Njølstad et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans.. (ekstern lenke)
• Ileana Cristea; Ove Bruland; Ingvild Aukrust et al. (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. (ekstern lenke)
• Karol Estrada; Ingvild Aukrust; Lise Bjørkhaug 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. (ekstern lenke)

Konferanseposter

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

Doktorgradsavhandling

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

Masteroppgave

• Ingvild Aukrust (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. (ekstern lenke)

Konferanseforedrag

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

Rettelse i tidsskrift

• Robert K. Semple; Kashyap A. Patel; Sungyoung Auh 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). (ekstern lenke)

Vitenskapelig litteraturgjennomgang

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

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