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Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.
Staels F, De Keukeleere K, Kinnunen M, Keskitalo S, Lorenzetti F, Vanmeert M, Prezzemolo T, Pasciuto E, Lescrinier E, Bossuyt X, Gerbaux M, Willemsen M, Neumann J, Van Loo S, Corveleyn A, Willekens K, Stalmans I, Meyts I, Liston A, Humblet-Baron S, Seppänen M, Varjosalo M, Schrijvers R. Staels F, et al. Among authors: varjosalo m. Front Immunol. 2022 Sep 20;13:973543. doi: 10.3389/fimmu.2022.973543. eCollection 2022. Front Immunol. 2022. PMID: 36203612 Free PMC article.
Comprehensive characterization of the embryonic factor LEUTX.
Gawriyski L, Jouhilahti EM, Yoshihara M, Fei L, Weltner J, Airenne TT, Trokovic R, Bhagat S, Tervaniemi MH, Murakawa Y, Salokas K, Liu X, Miettinen S, Bürglin TR, Sahu B, Otonkoski T, Johnson MS, Katayama S, Varjosalo M, Kere J. Gawriyski L, et al. Among authors: varjosalo m. iScience. 2023 Feb 9;26(3):106172. doi: 10.1016/j.isci.2023.106172. eCollection 2023 Mar 17. iScience. 2023. PMID: 36876139 Free PMC article.
Psychedelics promote plasticity by directly binding to BDNF receptor TrkB.
Moliner R, Girych M, Brunello CA, Kovaleva V, Biojone C, Enkavi G, Antenucci L, Kot EF, Goncharuk SA, Kaurinkoski K, Kuutti M, Fred SM, Elsilä LV, Sakson S, Cannarozzo C, Diniz CRAF, Seiffert N, Rubiolo A, Haapaniemi H, Meshi E, Nagaeva E, Öhman T, Róg T, Kankuri E, Vilar M, Varjosalo M, Korpi ER, Permi P, Mineev KS, Saarma M, Vattulainen I, Casarotto PC, Castrén E. Moliner R, et al. Among authors: varjosalo m. Nat Neurosci. 2023 Jun;26(6):1032-1041. doi: 10.1038/s41593-023-01316-5. Epub 2023 Jun 5. Nat Neurosci. 2023. PMID: 37280397 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. Among authors: varjosalo m. 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.
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.
Heikkinen T, Kämpjärvi K, Keskitalo S, von Nandelstadh P, Liu X, Rantanen V, Pitkänen E, Kinnunen M, Kuusanmäki H, Kontro M, Turunen M, Mäkinen N, Taipale J, Heckman C, Lehti K, Mustjoki S, Varjosalo M, Vahteristo P. Heikkinen T, et al. Among authors: varjosalo m. Hum Mutat. 2017 Mar;38(3):269-274. doi: 10.1002/humu.23157. Epub 2017 Jan 11. Hum Mutat. 2017. PMID: 28054750
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. Among authors: varjosalo m. 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
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
Saarimäki-Vire J, Balboa D, Russell MA, Saarikettu J, Kinnunen M, Keskitalo S, Malhi A, Valensisi C, Andrus C, Eurola S, Grym H, Ustinov J, Wartiovaara K, Hawkins RD, Silvennoinen O, Varjosalo M, Morgan NG, Otonkoski T. Saarimäki-Vire J, et al. Among authors: varjosalo m. Cell Rep. 2017 Apr 11;19(2):281-294. doi: 10.1016/j.celrep.2017.03.055. Cell Rep. 2017. PMID: 28402852 Free article.
Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation.
Rajamäki K, Keskitalo S, Seppänen M, Kuismin O, Vähäsalo P, Trotta L, Väänänen A, Glumoff V, Keskitalo P, Kaarteenaho R, Jartti A, Hautala N, Jackson P, Nordström DC, Saarela J, Hautala T, Eklund KK, Varjosalo M. Rajamäki K, et al. Among authors: varjosalo m. RMD Open. 2018 Oct 17;4(2):e000740. doi: 10.1136/rmdopen-2018-000740. eCollection 2018. RMD Open. 2018. PMID: 30402268 Free PMC article.
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. Among authors: varjosalo m. 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.
157 results