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54 results

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Page 1
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
Santaniemi W, Åström P, Glumoff V, Pernaa N, Tallgren EN, Palosaari S, Nissinen A, Kaustio M, Kuismin O, Saarela J, Nurmi K, Eklund KK, Seppänen MRJ, Hautala T. Santaniemi W, et al. Among authors: kuismin o. J Clin Immunol. 2023 Jul;43(5):1007-1018. doi: 10.1007/s10875-023-01461-3. Epub 2023 Mar 9. J Clin Immunol. 2023. PMID: 36892687 Free PMC article.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Among authors: kuismin o. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC 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: kuismin o. RMD Open. 2018 Oct 17;4(2):e000740. doi: 10.1136/rmdopen-2018-000740. eCollection 2018. RMD Open. 2018. PMID: 30402268 Free PMC article.
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.
Kaasinen E, Kuismin O, Rajamäki K, Ristolainen H, Aavikko M, Kondelin J, Saarinen S, Berta DG, Katainen R, Hirvonen EAM, Karhu A, Taira A, Tanskanen T, Alkodsi A, Taipale M, Morgunova E, Franssila K, Lehtonen R, Mäkinen M, Aittomäki K, Palotie A, Kurki MI, Pietiläinen O, Hilpert M, Saarentaus E, Niinimäki J, Junttila J, Kaikkonen K, Vahteristo P, Skoda RC, Seppänen MRJ, Eklund KK, Taipale J, Kilpivaara O, Aaltonen LA. Kaasinen E, et al. Among authors: kuismin o. Nat Commun. 2019 Mar 19;10(1):1252. doi: 10.1038/s41467-019-09198-7. Nat Commun. 2019. PMID: 30890702 Free PMC article.
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
Hautala T, Vähäsalo P, Kuismin O, Keskitalo S, Rajamäki K, Väänänen A, Simojoki M, Säily M, Pelkonen I, Tokola H, Mäkinen M, Kaarteenaho R, Jartti A, Hautala N, Kantola S, Jackson P, Glumoff V, Saarela J, Varjosalo M, Eklund KK, Seppänen MRJ. Hautala T, et al. Among authors: kuismin o. J Clin Rheumatol. 2021 Dec 1;27(8):e583-e587. doi: 10.1097/RHU.0000000000001268. J Clin Rheumatol. 2021. PMID: 31977656
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: kuismin o. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Tonsillar granuloma associated with hypogammaglobulinemia.
Laajala A, Kuismin O, Tastula M, Tiitto L, Kauppila S, Salo A, Åström P, Nissinen A, Glumoff V, Seppänen MRJ, Hautala T. Laajala A, et al. Among authors: kuismin o. Allergy Asthma Clin Immunol. 2020 May 29;16:43. doi: 10.1186/s13223-020-00441-1. eCollection 2020. Allergy Asthma Clin Immunol. 2020. PMID: 32514274 Free PMC article.
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Partanen T, Chen J, Lehtonen J, Kuismin O, Rusanen H, Vapalahti O, Vaheri A, Anttila VJ, Bode M, Hautala N, Vuorinen T, Glumoff V, Kraatari M, Åström P, Saarela J, Kauma H, Lorenzo L, Casanova JL, Zhang SY, Seppänen M, Hautala T. Partanen T, et al. Among authors: kuismin o. J Clin Immunol. 2020 Nov;40(8):1156-1162. doi: 10.1007/s10875-020-00834-2. Epub 2020 Sep 16. J Clin Immunol. 2020. PMID: 32936395 Free PMC article.
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