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Page 1
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: kansakoski j. JCI Insight. 2024 May 22;9(10):e167598. doi: 10.1172/jci.insight.167598. JCI Insight. 2024. PMID: 38775154 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: kansakoski j. Mol Hum Reprod. 2022 Apr 29;28(5):gaac012. doi: 10.1093/molehr/gaac012. Mol Hum Reprod. 2022. PMID: 35471239 Free PMC article.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kämpjärvi K, Wells K, Merkkiniemi K, von Nandelstadh P, Sarantaus L, Känsäkoski J, Mårtenson E, Västinsalo H, Schleit J, Sankila EM, Kere A, Junnila H, Siivonen P, Andreevskaya M, Kytölä V, Muona M, Salmenperä P, Myllykangas S, Koskenvuo J, Alastalo TP. Tuupanen S, et al. Among authors: kansakoski j. Transl Vis Sci Technol. 2022 Jan 3;11(1):6. doi: 10.1167/tvst.11.1.6. Transl Vis Sci Technol. 2022. PMID: 34985506 Free PMC article.
Familial central precocious puberty: two novel MKRN3 mutations.
Varimo T, Iivonen AP, Känsäkoski J, Wehkalampi K, Hero M, Vaaralahti K, Miettinen PJ, Niedziela M, Raivio T. Varimo T, et al. Among authors: kansakoski j. Pediatr Res. 2021 Aug;90(2):431-435. doi: 10.1038/s41390-020-01270-z. Epub 2020 Nov 19. Pediatr Res. 2021. PMID: 33214675
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: kansakoski j. 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.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Messina A, Pulli K, Santini S, Acierno J, Känsäkoski J, Cassatella D, Xu C, Casoni F, Malone SA, Ternier G, Conte D, Sidis Y, Tommiska J, Vaaralahti K, Dwyer A, Gothilf Y, Merlo GR, Santoni F, Niederländer NJ, Giacobini P, Raivio T, Pitteloud N. Messina A, et al. Among authors: kansakoski j. Am J Hum Genet. 2020 Jan 2;106(1):58-70. doi: 10.1016/j.ajhg.2019.12.003. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883645 Free PMC article.
25 results