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Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Kostel Bal S, Giuliani S, Block J, Repiscak P, Hafemeister C, Shahin T, Kasap N, Ransmayr B, Miao Y, van de Wetering C, Frohne A, Jimenez Heredia R, Schuster M, Zoghi S, Hertlein V, Thian M, Bykov A, Babayeva R, Bilgic Eltan S, Karakoc-Aydiner E, Shaw LE, Chowdhury I, Varjosalo M, Argüello RJ, Farlik M, Ozen A, Serfling E, Dupré L, Bock C, Halbritter F, Hannich JT, Castanon I, Kraakman MJ, Baris S, Boztug K. Kostel Bal S, et al. Among authors: repiscak p. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Shahin T, Kuehn HS, Shoeb MR, Gawriyski L, Giuliani S, Repiscak P, Hoeger B, Yüce Petronczki Ö, Bal SK, Zoghi S, Dmytrus J, Seruggia D, Castanon I, Rezaei N, Varjosalo M, Halbritter F, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: repiscak p. Sci Immunol. 2021 Nov 26;6(65):eabe3981. doi: 10.1126/sciimmunol.abe3981. Epub 2021 Nov 26. Sci Immunol. 2021. PMID: 34826259 Free PMC article.
Landscape of Bone Marrow Metastasis in Human Neuroblastoma Unraveled by Transcriptomics and Deep Multiplex Imaging.
Lazic D, Kromp F, Rifatbegovic F, Repiscak P, Kirr M, Mivalt F, Halbritter F, Bernkopf M, Bileck A, Ussowicz M, Ambros IM, Ambros PF, Gerner C, Ladenstein R, Ostalecki C, Taschner-Mandl S. Lazic D, et al. Among authors: repiscak p. Cancers (Basel). 2021 Aug 26;13(17):4311. doi: 10.3390/cancers13174311. Cancers (Basel). 2021. PMID: 34503120 Free PMC article.
Multi-omics & pathway analysis identify potential roles for tumor N-acetyl aspartate accumulation in murine models of castration-resistant prostate cancer.
Salji MJ, Blomme A, Däbritz JHM, Repiscak P, Lilla S, Patel R, Sumpton D, van den Broek NJF, Daly R, Zanivan S, Leung HY. Salji MJ, et al. Among authors: repiscak p. iScience. 2022 Mar 11;25(4):104056. doi: 10.1016/j.isci.2022.104056. eCollection 2022 Apr 15. iScience. 2022. PMID: 35345457 Free PMC article.
THEM6-mediated reprogramming of lipid metabolism supports treatment resistance in prostate cancer.
Blomme A, Peter C, Mui E, Rodriguez Blanco G, An N, Mason LM, Jamieson LE, McGregor GH, Lilla S, Ntala C, Patel R, Thiry M, Kung SHY, Leclercq M, Ford CA, Rushworth LK, McGarry DJ, Mason S, Repiscak P, Nixon C, Salji MJ, Markert E, MacKay GM, Kamphorst JJ, Graham D, Faulds K, Fazli L, Gleave ME, Avezov E, Edwards J, Yin H, Sumpton D, Blyth K, Close P, Murphy DJ, Zanivan S, Leung HY. Blomme A, et al. Among authors: repiscak p. EMBO Mol Med. 2022 Mar 7;14(3):e14764. doi: 10.15252/emmm.202114764. Epub 2022 Jan 11. EMBO Mol Med. 2022. PMID: 35014179 Free PMC article.
2,4-dienoyl-CoA reductase regulates lipid homeostasis in treatment-resistant prostate cancer.
Blomme A, Ford CA, Mui E, Patel R, Ntala C, Jamieson LE, Planque M, McGregor GH, Peixoto P, Hervouet E, Nixon C, Salji M, Gaughan L, Markert E, Repiscak P, Sumpton D, Blanco GR, Lilla S, Kamphorst JJ, Graham D, Faulds K, MacKay GM, Fendt SM, Zanivan S, Leung HY. Blomme A, et al. Among authors: repiscak p. Nat Commun. 2020 May 19;11(1):2508. doi: 10.1038/s41467-020-16126-7. Nat Commun. 2020. PMID: 32427840 Free PMC article.
Correction: BRF1 accelerates prostate tumourigenesis and perturbs immune infiltration.
Loveridge CJ, Slater S, Campbell KJ, Nam NA, Knight J, Ahmad I, Hedley A, Lilla S, Repiscak P, Patel R, Salji M, Fleming J, Mitchell L, Nixon C, Strathdee D, Neilson M, Ntala C, Bryson S, Zanivan S, Edwards J, Robson CN, Goodyear CS, Blyth K, Leung HY. Loveridge CJ, et al. Among authors: repiscak p. Oncogene. 2020 Mar;39(11):2450. doi: 10.1038/s41388-019-1149-z. Oncogene. 2020. PMID: 31857667 Free PMC article.
17 results