Forskning
Forsker på genutrykk ved Autoimmune Polyendocrine Syndrom type 1 (APS-1) og Addisons sykdom, ved hjelp av bulk og single cell RNA sekvensering.
Er medlem av K.G. Jebsen senter for autoimmune sykdommer og Genomikkgruppen på medisinsk genetikk (MGM).
Publikasjoner
Vitenskapelig artikkel
- Oftedal, Bergithe Eikeland; Berger, Amund Holte; Bruserud, Øyvind et al. (2023). A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. (ekstern lenke)
- 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. (ekstern lenke)
- Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel et al. (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. (ekstern lenke)
- Berger, Amund Holte; Bratland, Eirik; Sjøgren, Thea et al. (2021). Transcriptional changes in regulatory T cells from patients with autoimmune polyendocrine syndrome type 1 suggest functional impairment of lipid metabolism and gut homing. (ekstern lenke)
- Goldfarb, Yael; Givony, Tal; Kadouri, Noam et al. (2021). Mechanistic dissection of dominant AIRE mutations in mouse models reveals AIRE autoregulation. (ekstern lenke)