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Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA. Moen MN, et al. Among authors: laerdahl jk. Brain. 2016 Dec;139(Pt 12):3109-3120. doi: 10.1093/brain/aww244. Epub 2016 Oct 14. Brain. 2016. PMID: 27742667
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine.
Strøm TB, Asprusten E, Laerdahl JK, Øygard I, Hussain MM, Bogsrud MP, Leren TP. Strøm TB, et al. Among authors: laerdahl jk. J Clin Lipidol. 2023 Nov-Dec;17(6):800-807. doi: 10.1016/j.jacl.2023.08.009. Epub 2023 Sep 9. J Clin Lipidol. 2023. PMID: 37718180 Free article.
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.
Zeissig S, Petersen BS, Tomczak M, Melum E, Huc-Claustre E, Dougan SK, Laerdahl JK, Stade B, Forster M, Schreiber S, Weir D, Leichtner AM, Franke A, Blumberg RS. Zeissig S, et al. Among authors: laerdahl jk. Gut. 2015 Dec;64(12):1889-97. doi: 10.1136/gutjnl-2014-308541. Epub 2014 Nov 3. Gut. 2015. PMID: 25367873 Free PMC article.
54 results