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Page 1
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M. Corbett MA, et al. Among authors: caligiuri g. J Med Genet. 2015 Apr;52(4):269-74. doi: 10.1136/jmedgenet-2014-102418. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612912
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. Kuschal C, et al. Among authors: caligiuri g. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996949 Free PMC article.
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Botta E, Theil AF, Raams A, Caligiuri G, Giachetti S, Bione S, Accadia M, Lombardi A, Smith DEC, Mendes MI, Swagemakers SMA, van der Spek PJ, Salomons GS, Hoeijmakers JHJ, Yesodharan D, Nampoothiri S, Ogi T, Lehmann AR, Orioli D, Vermeulen W. Botta E, et al. Among authors: caligiuri g. Hum Mol Genet. 2021 Aug 28;30(18):1711-1720. doi: 10.1093/hmg/ddab123. Hum Mol Genet. 2021. PMID: 33909043 Free PMC article.
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D. Theil AF, et al. Among authors: caligiuri g. Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017. Am J Hum Genet. 2019. PMID: 31374204 Free PMC article.
Scribble Deficiency Promotes Pancreatic Ductal Adenocarcinoma Development and Metastasis.
Bermejo-Rodriguez C, Araos Henríquez J, Caligiuri G, Pinto Teles S, Park Y, Evans A, Barrera LN, Neesse A, Grützmann R, Aust D, Rümmele P, Knösel T, Narita M, Narita M, Campbell F, Öhlund D, Pilarsky C, Dow LE, Humbert PO, Biffi G, Tuveson DA, Perez-Mancera PA. Bermejo-Rodriguez C, et al. Among authors: caligiuri g. Cancer Res. 2024 Sep 16;84(18):2968-2984. doi: 10.1158/0008-5472.CAN-23-3419. Cancer Res. 2024. PMID: 39037766
Host response during unresolved urinary tract infection alters female mammary tissue homeostasis through collagen deposition and TIMP1.
Henry S, Lewis SM, Cyrill SL, Callaway MK, Chatterjee D, Hanasoge Somasundara AV, Jones G, He XY, Caligiuri G, Ciccone MF, Diaz IA, Biswas AA, Hernandez E, Ha T, Wilkinson JE, Egeblad M, Tuveson DA, Dos Santos CO. Henry S, et al. Among authors: caligiuri g. Nat Commun. 2024 Apr 16;15(1):3282. doi: 10.1038/s41467-024-47462-7. Nat Commun. 2024. PMID: 38627380 Free PMC article.
The localization, origin, and impact of platelets in the tumor microenvironment are tumor type-dependent.
Le Chapelain O, Jadoui S, Gros A, Barbaria S, Benmeziane K, Ollivier V, Dupont S, Solo Nomenjanahary M, Mavouna S, Rogozarski J, Mawhin MA, Caligiuri G, Delbosc S, Porteu F, Nieswandt B, Mangin PH, Boulaftali Y, Ho-Tin-Noé B. Le Chapelain O, et al. Among authors: caligiuri g. J Exp Clin Cancer Res. 2024 Mar 16;43(1):84. doi: 10.1186/s13046-024-03001-2. J Exp Clin Cancer Res. 2024. PMID: 38493157 Free PMC article.
144 results