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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: saarimaki vire j. JCI Insight. 2024 May 22;9(10):e167598. doi: 10.1172/jci.insight.167598. JCI Insight. 2024. PMID: 38775154 Free PMC article.
An Activating STAT3 Mutation Causes Neonatal Diabetes through Premature Induction of Pancreatic Differentiation.
Saarimäki-Vire J, Balboa D, Russell MA, Saarikettu J, Kinnunen M, Keskitalo S, Malhi A, Valensisi C, Andrus C, Eurola S, Grym H, Ustinov J, Wartiovaara K, Hawkins RD, Silvennoinen O, Varjosalo M, Morgan NG, Otonkoski T. Saarimäki-Vire J, et al. Cell Rep. 2017 Apr 11;19(2):281-294. doi: 10.1016/j.celrep.2017.03.055. Cell Rep. 2017. PMID: 28402852 Free article.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yıldırım R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senée V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimäki-Vire J, Otonkoski T, Cnop M, Hattersley AT. De Franco E, et al. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 Free PMC article.
Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells.
Balboa D, Barsby T, Lithovius V, Saarimäki-Vire J, Omar-Hmeadi M, Dyachok O, Montaser H, Lund PE, Yang M, Ibrahim H, Näätänen A, Chandra V, Vihinen H, Jokitalo E, Kvist J, Ustinov J, Nieminen AI, Kuuluvainen E, Hietakangas V, Katajisto P, Lau J, Carlsson PO, Barg S, Tengholm A, Otonkoski T. Balboa D, et al. Nat Biotechnol. 2022 Jul;40(7):1042-1055. doi: 10.1038/s41587-022-01219-z. Epub 2022 Mar 3. Nat Biotechnol. 2022. PMID: 35241836 Free PMC article.
Differentiating functional human islet-like aggregates from pluripotent stem cells.
Barsby T, Ibrahim H, Lithovius V, Montaser H, Balboa D, Vähäkangas E, Chandra V, Saarimäki-Vire J, Otonkoski T. Barsby T, et al. Among authors: saarimaki vire j. STAR Protoc. 2022 Dec 16;3(4):101711. doi: 10.1016/j.xpro.2022.101711. Epub 2022 Sep 21. STAR Protoc. 2022. PMID: 36136756 Free PMC article.
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