Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.

Autor: Repo PE; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Jakkula E; Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Hiltunen J; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Putkuri H; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Staskiewicz-Tuikkanen A; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Järvinen RS; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland., Täll M; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Raivio V; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Al-Jamal RT; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kivelä TT; Ocular Oncology Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Turunen JA; Eye Genetics Group, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki, Finland.; Ophthalmic Genetics and Rare eye Diseases Service, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Publikováno v: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2025 Jan; Vol. 38 (1), pp. e13198. Date of Electronic Publication: 2024 Sep 30.

17B-hydroxysteroid dehydrogenases as acyl thioester metabolizing enzymes

Autor: Hiltunen, J. Kalervo, Kastaniotis, Alexander J., Autio, Kaija J., Jiang, Guangyu, Chen, Zhijun, Glumoff, Tuomo

Publikováno v: In Molecular and Cellular Endocrinology 1 June 2019 489:107-118

Glucocorticoid receptor action in prostate cancer: the role of transcription factor crosstalk.

Autor: Hiltunen J; Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland., Helminen L; Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland., Paakinaho V; Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jul 04; Vol. 15, pp. 1437179. Date of Electronic Publication: 2024 Jul 04 (Print Publication: 2024).

Non-electron transfer chain mitochondrial defects differently regulate HIF-1α degradation and transcription

Autor: Shvetsova, Antonina N., Mennerich, Daniela, Kerätär, Juha M., Hiltunen, J. Kalervo, Kietzmann, Thomas

Publikováno v: In Redox Biology August 2017 12:1052-1061

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Autor: Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Jr., Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

Publikováno v: In The American Journal of Human Genetics 1 December 2016 99(6):1229-1244