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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: varjosalo m. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Hietamäki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Känsäkoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T. Hietamäki J, et al. Among authors: varjosalo m. J Clin Endocrinol Metab. 2020 Jun 1;105(6):1748-58. doi: 10.1210/clinem/dgaa078. J Clin Endocrinol Metab. 2020. PMID: 32060556 Free PMC article.
Human transcription factor protein interaction networks.
Göös H, Kinnunen M, Salokas K, Tan Z, Liu X, Yadav L, Zhang Q, Wei GH, Varjosalo M. Göös H, et al. Among authors: varjosalo m. Nat Commun. 2022 Feb 9;13(1):766. doi: 10.1038/s41467-022-28341-5. Nat Commun. 2022. PMID: 35140242 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: varjosalo m. Mol Hum Reprod. 2022 Apr 29;28(5):gaac012. doi: 10.1093/molehr/gaac012. Mol Hum Reprod. 2022. PMID: 35471239 Free PMC article.
Analyzing Protein Interactions by MAC-Tag Approaches.
Liu X, Salokas K, Keskitalo S, Martínez-Botía P, Varjosalo M. Liu X, et al. Among authors: varjosalo m. Methods Mol Biol. 2023;2690:281-297. doi: 10.1007/978-1-0716-3327-4_24. Methods Mol Biol. 2023. PMID: 37450155
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: varjosalo m. JCI Insight. 2024 May 22;9(10):e167598. doi: 10.1172/jci.insight.167598. JCI Insight. 2024. PMID: 38775154 Free PMC article.
156 results