Ingvild Aukrusts bilde

Ingvild Aukrust

  • E-postingvild.aukrust@uib.no
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
    5009 Bergen
  • Postadresse
    Postboks 7804
    5020 Bergen
Vitenskapelig artikkel
  • Vis forfatter(e) (2024). Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Human Molecular Genetics. 894-904.
  • Vis forfatter(e) (2024). Comparison of the ABC and ACMG systems for variant classification. European Journal of Human Genetics. 6 sider.
  • Vis forfatter(e) (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. Nature Medicine.
  • Vis forfatter(e) (2023). Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. BMC Cancer. 13 sider.
  • Vis forfatter(e) (2023). Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. Genes. 19 sider.
  • Vis forfatter(e) (2023). Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R. Cells.
  • Vis forfatter(e) (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. Diabetologia. 2226-2237.
  • Vis forfatter(e) (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. The Lancet Regional Health - Europe. 12 sider.
  • Vis forfatter(e) (2022). The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations. Diabetologia. 116-126.
  • Vis forfatter(e) (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. Journal of Biological Chemistry. 14 sider.
  • Vis forfatter(e) (2022). BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. Familial Cancer. 389-398.
  • Vis forfatter(e) (2021). Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. FEBS Letters. 2909-2921.
  • Vis forfatter(e) (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. International Journal of Molecular Sciences.
  • Vis forfatter(e) (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. Frontiers in Molecular Neuroscience. 1-19.
  • Vis forfatter(e) (2020). Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. American Journal of Human Genetics. 670-682.
  • Vis forfatter(e) (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine. 1215-1226.
  • Vis forfatter(e) (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. The Journal of Inherited Metabolic Disease (JIMD). 1-13.
  • Vis forfatter(e) (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. Journal of Clinical Endocrinology and Metabolism (JCEM). e1377-e1386.
  • Vis forfatter(e) (2020). Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. Acta Ophthalmologica. 1-14.
  • Vis forfatter(e) (2019). Dominant ARL3-related retinitis pigmentosa. Ophthalmic Genetics. 124-128.
  • Vis forfatter(e) (2018). The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. Scientific Reports.
  • Vis forfatter(e) (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. BMC Medical Genetics. 1-9.
  • Vis forfatter(e) (2018). De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European Journal of Human Genetics. 378-383.
  • Vis forfatter(e) (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. Cold Spring Harbor Molecular Case Studies.
  • Vis forfatter(e) (2017). Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 625-635.
  • Vis forfatter(e) (2017). Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes. FEBS Open Bio. 160-173.
  • Vis forfatter(e) (2017). Phenotypic extremes of BICD2-opathies: From lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. European Journal of Human Genetics. 1040-1048.
  • Vis forfatter(e) (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. Molecular and Cellular Endocrinology. 146-157.
  • Vis forfatter(e) (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports. 1-12.
  • Vis forfatter(e) (2017). HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics. 64-74.
  • Vis forfatter(e) (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
  • Vis forfatter(e) (2016). The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica. 240-246.
  • Vis forfatter(e) (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature. 285-291.
  • Vis forfatter(e) (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism (JCEM). E1540-E1549.
  • Vis forfatter(e) (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases.
  • Vis forfatter(e) (2014). GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology. 55-65.
  • Vis forfatter(e) (2014). Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. Journal of the American Medical Association (JAMA). 2305-2314.
  • Vis forfatter(e) (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry. 5951-5962.
  • Vis forfatter(e) (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1705-1715.
  • Vis forfatter(e) (2011). Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal. 2372-2386.
  • Vis forfatter(e) (2007). The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV. Journal of Molecular Biology (JMB). 1367-1378.
  • Vis forfatter(e) (2006). Engineering, biophysical characterisation and binding properties of a soluble mutant form of annexin A2 domain IV that adopts a partially folded conformation. Journal of Molecular Biology (JMB). 469-481.
  • Vis forfatter(e) (2006). Annexin A2 recognises a specific region in the 3 '-UTR of its cognate messenger RNA. BBA - Molecular Cell Research. 1325-1334.
  • Vis forfatter(e) (2005). Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction. FEBS Letters. 203-206.
Vitenskapelig foredrag
  • Vis forfatter(e) (2019). Functional characterization of diabetes gene variants is important for precision medicine .
Short communication
  • Vis forfatter(e) (2020). De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. Journal of Medical Genetics. 1-5.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2019). Precision medicine in MODYdiabetes: Unraveling the disease causality of gene variants and new regulatory mechanisms .
  • Vis forfatter(e) (2007). Annexin A2 as an mRNA-binding protein.
  • Vis forfatter(e) (2020). Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.
  • Vis forfatter(e) (2020). Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.
  • Vis forfatter(e) (2019). Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics.
  • Vis forfatter(e) (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration.
  • Vis forfatter(e) (2018). The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1.
  • Vis forfatter(e) (2018). Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics.
  • Vis forfatter(e) (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.
  • Vis forfatter(e) (2006). Engineering of mRNA chimeras to study the role of Annexin A2 in c-myc mRNA translation.
  • Vis forfatter(e) (2003). Ubiquitin conjugates of annexin 2 are enriched in cytoskeleton-associated messenger ribonucleoprotein complexes.
Vitenskapelig oversiktsartikkel/review
  • Vis forfatter(e) (2022). Diabetes mellitus – analyser av genvarianter assosiert med subtyper av Maturity-Onset Diabetes of the Young (MODY). Bioingeniøren. 30-36.

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