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Page 1
Vitamin C boosts DNA demethylation in TET2 germline mutation carriers.
Taira A, Palin K, Kuosmanen A, Välimäki N, Kuittinen O, Kuismin O, Kaasinen E, Rajamäki K, Aaltonen LA. Taira A, et al. Among authors: kuismin o. Clin Epigenetics. 2023 Jan 14;15(1):7. doi: 10.1186/s13148-022-01404-6. Clin Epigenetics. 2023. PMID: 36639817 Free PMC article. Clinical Trial.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LDM, 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 CTRM, 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. 2017 Jan 5;100(1):179. doi: 10.1016/j.ajhg.2016.12.004. Am J Hum Genet. 2017. PMID: 28061364 Free PMC article. No abstract available.
No evidence of RET germline mutations in familial pituitary adenoma.
Heliövaara E, Tuupanen S, Ahlsten M, Hodgson S, de Menis E, Kuismin O, Izatt L, McKinlay Gardner RJ, Gundogdu S, Lucassen A, Arola J, Tuomisto A, Mäkinen M, Karhu A, Aaltonen LA. Heliövaara E, et al. Among authors: kuismin o. J Mol Endocrinol. 2010 Dec 21;46(1):1-8. doi: 10.1677/JME-10-0052. Print 2011 Feb. J Mol Endocrinol. 2010. PMID: 20956458
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.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: kuismin o. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 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
51 results