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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J, Känsäkoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge EJ, Tang C, Yuan L, Fagerholm R, Kanters JK, Lahermo P, Kaunisto M, Keski-Filppula R, Vuoristo S, Pulli K, Ebeling T, Valanne L, Sankila EM, Kivirikko S, Lääperi M, Casoni F, Giacobini P, Phan-Hug F, Buki T, Tena-Sempere M, Pitteloud N, Veijola R, Lipsanen-Nyman M, Kaunisto K, Mollard P, Andoniadou CL, Hirsch JA, Varjosalo M, Jespersen T, Raivio T. Tommiska J, et al. Among authors: vuoristo s. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
Human pluripotent stem cell-derived cells endogenously expressing follicle-stimulating hormone receptors: modeling the function of an inactivating receptor mutation.
Lundin K, Sepponen K, Väyrynen P, Liu X, Yohannes DA, Survila M, Ghimire B, Känsäkoski J, Katayama S, Partanen J, Vuoristo S, Paloviita P, Rahman N, Raivio T, Luiro K, Huhtaniemi I, Varjosalo M, Tuuri T, Tapanainen JS. Lundin K, et al. Among authors: vuoristo s. Mol Hum Reprod. 2022 Apr 29;28(5):gaac012. doi: 10.1093/molehr/gaac012. Mol Hum Reprod. 2022. PMID: 35471239 Free PMC article.
A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes.
Pulli K, Saarimäki-Vire J, Ahonen P, Liu X, Ibrahim H, Chandra V, Santambrogio A, Wang Y, Vaaralahti K, Iivonen AP, Känsäkoski J, Tommiska J, Kemkem Y, Varjosalo M, Vuoristo S, Andoniadou CL, Otonkoski T, Raivio T. Pulli K, et al. Among authors: vuoristo s. JCI Insight. 2024 May 22;9(10):e167598. doi: 10.1172/jci.insight.167598. JCI Insight. 2024. PMID: 38775154 Free article.
Transient DUX4 expression in human embryonic stem cells induces blastomere-like expression program that is marked by SLC34A2.
Yoshihara M, Kirjanov I, Nykänen S, Sokka J, Weltner J, Lundin K, Gawriyski L, Jouhilahti EM, Varjosalo M, Tervaniemi MH, Otonkoski T, Trokovic R, Katayama S, Vuoristo S, Kere J. Yoshihara M, et al. Among authors: vuoristo s. Stem Cell Reports. 2022 Jul 12;17(7):1743-1756. doi: 10.1016/j.stemcr.2022.06.002. Epub 2022 Jun 30. Stem Cell Reports. 2022. PMID: 35777358 Free PMC article.
DUX4 is a multifunctional factor priming human embryonic genome activation.
Vuoristo S, Bhagat S, Hydén-Granskog C, Yoshihara M, Gawriyski L, Jouhilahti EM, Ranga V, Tamirat M, Huhtala M, Kirjanov I, Nykänen S, Krjutškov K, Damdimopoulos A, Weltner J, Hashimoto K, Recher G, Ezer S, Paluoja P, Paloviita P, Takegami Y, Kanemaru A, Lundin K, Airenne TT, Otonkoski T, Tapanainen JS, Kawaji H, Murakawa Y, Bürglin TR, Varjosalo M, Johnson MS, Tuuri T, Katayama S, Kere J. Vuoristo S, et al. iScience. 2022 Mar 22;25(4):104137. doi: 10.1016/j.isci.2022.104137. eCollection 2022 Apr 15. iScience. 2022. PMID: 35402882 Free PMC article.
22 results