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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas R, Atneosen-Åsegg M, Ytre-Arne ME, Melheim M, Sorte HS, Cízková D, Reims HM, Bezrouk A, Harrison SP, Strand J, Hermansen JU, Andersen SS, Eiklid KL, Mokrý J, Sullivan GJ, Stray-Pedersen A. Almaas R, et al. Among authors: sullivan gj. J Hepatol. 2023 Oct;79(4):945-954. doi: 10.1016/j.jhep.2023.05.037. Epub 2023 Jun 14. J Hepatol. 2023. PMID: 37328071 Free article.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Lin X, Wang W, Yang M, Damseh N, de Sousa MML, Jacob F, Lång A, Kristiansen E, Pannone M, Kissova M, Almaas R, Kuśnierczyk A, Siller R, Shahrour M, Al-Ashhab M, Abu-Libdeh B, Tang W, Slupphaug G, Elpeleg O, Bøe SO, Eide L, Sullivan GJ, Rinholm JE, Song H, Ming GL, van Loon B, Edvardson S, Ye J, Bjørås M. Lin X, et al. Among authors: sullivan gj. Genome Biol. 2023 Sep 29;24(1):216. doi: 10.1186/s13059-023-03037-1. Genome Biol. 2023. PMID: 37773136 Free PMC article.
"Organ-in-a-Column" Coupled On-line with Liquid Chromatography-Mass Spectrometry.
Kogler S, Aizenshtadt A, Harrison S, Skottvoll FS, Berg HE, Abadpour S, Scholz H, Sullivan G, Thiede B, Lundanes E, Bogen IL, Krauss S, Røberg-Larsen H, Wilson SR. Kogler S, et al. Anal Chem. 2022 Dec 20;94(50):17677-17684. doi: 10.1021/acs.analchem.2c04530. Epub 2022 Dec 9. Anal Chem. 2022. PMID: 36484723 Free PMC article.
77 results