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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Bottillo I, Laino L, Azzarà A, Lintas C, Cassano I, Di Lazzaro V, Ursini F, Motolese F, Bargiacchi S, Formicola D, Grammatico P, Gurrieri F. Bottillo I, et al. Among authors: formicola d. Front Neurosci. 2024 Jan 5;17:1304080. doi: 10.3389/fnins.2023.1304080. eCollection 2023. Front Neurosci. 2024. PMID: 38249578 Free PMC article.
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes.
Attardi E, Andolfo I, Russo R, Tiberi L, Raddi MG, Rosato BE, Marra R, Formicola D, Del Giudice F, Brogi A, Consagra A, Amato C, Sanna A, Artuso R, Iolascon A, Santini V. Attardi E, et al. Among authors: formicola d. Am J Hematol. 2023 Apr;98(4):E72-E75. doi: 10.1002/ajh.26863. Epub 2023 Feb 14. Am J Hematol. 2023. PMID: 36695705 Free article. No abstract available.
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.
Cardinale A, Cantalupo S, Lasorsa VA, Montella A, Cimmino F, Succoio M, Vermeulen M, Baltissen MP, Esposito M, Avitabile M, Formicola D, Testori A, Bonfiglio F, Ghiorzo P, Scalvenzi M, Ayala F, Zambrano N, Iles MM, Xu M, Law MH, Brown KM, Iolascon A, Capasso M. Cardinale A, et al. Among authors: formicola d. Hum Mol Genet. 2022 Mar 21;31(6):863-874. doi: 10.1093/hmg/ddab293. Hum Mol Genet. 2022. PMID: 34605909 Free PMC article.
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene.
Avitabile M, Succoio M, Testori A, Cardinale A, Vaksman Z, Lasorsa VA, Cantalupo S, Esposito M, Cimmino F, Montella A, Formicola D, Koster J, Andreotti V, Ghiorzo P, Romano MF, Staibano S, Scalvenzi M, Ayala F, Hakonarson H, Corrias MV, Devoto M, Law MH, Iles MM, Brown K, Diskin S, Zambrano N, Iolascon A, Capasso M. Avitabile M, et al. Among authors: formicola d. Carcinogenesis. 2020 May 14;41(3):284-295. doi: 10.1093/carcin/bgz153. Carcinogenesis. 2020. PMID: 31605138 Free PMC article.
Motor neuron degeneration, severe myopathy and TDP-43 increase in a transgenic pig model of SOD1-linked familiar ALS.
Crociara P, Chieppa MN, Vallino Costassa E, Berrone E, Gallo M, Lo Faro M, Pintore MD, Iulini B, D'Angelo A, Perona G, Botter A, Formicola D, Rainoldi A, Paulis M, Vezzoni P, Meli F, Peverali FA, Bendotti C, Trolese MC, Pasetto L, Bonetto V, Lazzari G, Duchi R, Perota A, Lagutina I, Quadalti C, Gennero MS, Dezzutto D, Desiato R, Boido M, Ghibaudi M, Valentini MC, Caramelli M, Galli C, Casalone C, Corona C. Crociara P, et al. Among authors: formicola d. Neurobiol Dis. 2019 Apr;124:263-275. doi: 10.1016/j.nbd.2018.11.021. Epub 2018 Nov 22. Neurobiol Dis. 2019. PMID: 30471417 Free article.
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.
Cimmino F, Avitabile M, Diskin SJ, Vaksman Z, Pignataro P, Formicola D, Cardinale A, Testori A, Koster J, de Torres C, Devoto M, Maris JM, Iolascon A, Capasso M. Cimmino F, et al. Among authors: formicola d. Int J Cancer. 2018 Dec 1;143(11):2828-2837. doi: 10.1002/ijc.31822. Epub 2018 Oct 4. Int J Cancer. 2018. PMID: 30132831 Free PMC article.
24 results