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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
Oftedal BE, Assing K, Baris S, Safgren SL, Johansen IS, Jakobsen MA, Babovic-Vuksanovic D, Agre K, Klee EW, Majcic E, Ferré EMN, Schmitt MM, DiMaggio T, Rosen LB, Rahman MO, Chrysis D, Giannakopoulos A, Garcia MT, González-Granado LI, Stanley K, Galant-Swafford J, Suwannarat P, Meyts I, Lionakis MS, Husebye ES. Oftedal BE, et al. iScience. 2023 May 5;26(6):106818. doi: 10.1016/j.isci.2023.106818. eCollection 2023 Jun 16. iScience. 2023. PMID: 37235056 Free PMC article.
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.
Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, Hotu C, Oftedal BE, Cutfield R, Adelson DL, Braund WJ, Gordon RD, Rees DA, Grossman AB, Torpy DJ, Scott HS. Gagliardi L, et al. Among authors: oftedal be. J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi: 10.1210/jc.2014-1265. Epub 2014 Jun 6. J Clin Endocrinol Metab. 2014. PMID: 24905064
AIRE-mutations and autoimmune disease.
Bruserud Ø, Oftedal BE, Wolff AB, Husebye ES. Bruserud Ø, et al. Among authors: oftedal be. Curr Opin Immunol. 2016 Dec;43:8-15. doi: 10.1016/j.coi.2016.07.003. Epub 2016 Aug 6. Curr Opin Immunol. 2016. PMID: 27504588 Review.
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S, Wolff AB, Vigeland MD, Breivik L, Sheng Y, Oftedal BE, Artaza H, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E. Aslaksen S, et al. Among authors: oftedal be. J Transl Autoimmun. 2019 May 28;1:100005. doi: 10.1016/j.jtauto.2019.100005. eCollection 2019 Apr. J Transl Autoimmun. 2019. PMID: 32743495 Free PMC article.
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES. Oftedal BE, et al. Immunity. 2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. Immunity. 2015. PMID: 26084028 Free article.
44 results