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Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppänen M, Kere J, Heiskanen K, Varjosalo M. Keskitalo S, et al. Among authors: fogarty c. NPJ Genom Med. 2019 Jun 27;4:14. doi: 10.1038/s41525-019-0088-5. eCollection 2019. NPJ Genom Med. 2019. PMID: 31263572 Free PMC article.
Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.
Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutškov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppänen M, Kere J. Haapaniemi EM, et al. J Allergy Clin Immunol. 2017 Apr;139(4):1391-1393.e11. doi: 10.1016/j.jaci.2016.09.050. Epub 2016 Nov 29. J Allergy Clin Immunol. 2017. PMID: 27913302 Free article. No abstract available.
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J, Einarsdottir E, Sahu B, Kilpinen S, Rounioja S, Fogarty CL, Glumoff V, Kulmala P, Katayama S, Tamene F, Trotta L, Morgunova E, Krjutškov K, Nurmi K, Eklund K, Lagerstedt A, Helminen M, Martelius T, Mustjoki S, Taipale J, Saarela J, Kere J, Varjosalo M, Seppänen M. Kaustio M, et al. J Allergy Clin Immunol. 2017 Sep;140(3):782-796. doi: 10.1016/j.jaci.2016.10.054. Epub 2017 Jan 21. J Allergy Clin Immunol. 2017. PMID: 28115215
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ. Göös H, et al. J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. doi: 10.1016/j.jaci.2019.06.003. Epub 2019 Jun 13. J Allergy Clin Immunol. 2019. PMID: 31201888 Free PMC article.
MANF protects human pancreatic beta cells against stress-induced cell death.
Hakonen E, Chandra V, Fogarty CL, Yu NY, Ustinov J, Katayama S, Galli E, Danilova T, Lindholm P, Vartiainen A, Einarsdottir E, Krjutškov K, Kere J, Saarma M, Lindahl M, Otonkoski T. Hakonen E, et al. Diabetologia. 2018 Oct;61(10):2202-2214. doi: 10.1007/s00125-018-4687-y. Epub 2018 Jul 21. Diabetologia. 2018. PMID: 30032427 Free PMC article.
Cyclin-dependent kinase 2 protects podocytes from apoptosis.
Saurus P, Kuusela S, Dumont V, Lehtonen E, Fogarty CL, Lassenius MI, Forsblom C, Lehto M, Saleem MA, Groop PH, Lehtonen S. Saurus P, et al. Among authors: fogarty cl. Sci Rep. 2016 Feb 15;6:21664. doi: 10.1038/srep21664. Sci Rep. 2016. PMID: 26876672 Free PMC article.
Fungal Dysbiosis and Intestinal Inflammation in Children With Beta-Cell Autoimmunity.
Honkanen J, Vuorela A, Muthas D, Orivuori L, Luopajärvi K, Tejesvi MVG, Lavrinienko A, Pirttilä AM, Fogarty CL, Härkönen T, Ilonen J, Ruohtula T, Knip M, Koskimäki JJ, Vaarala O. Honkanen J, et al. Front Immunol. 2020 Mar 19;11:468. doi: 10.3389/fimmu.2020.00468. eCollection 2020. Front Immunol. 2020. PMID: 32265922 Free PMC article.
225 results