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De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. Ma M, et al. Among authors: mandriani b. medRxiv [Preprint]. 2024 Jan 9:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523. medRxiv. 2024. PMID: 38260438 Free PMC article. Preprint.
Reversal of MYB-dependent suppression of MAFB expression overrides leukaemia phenotype in MLL-rearranged AML.
Negri A, Ward C, Bucci A, D'Angelo G, Cauchy P, Radesco A, Ventura AB, Walton DS, Clarke M, Mandriani B, Pappagallo SA, Mondelli P, Liao K, Gargano G, Zaccaria GM, Viggiano L, Lasorsa FM, Ahmed A, Di Molfetta D, Fiermonte G, Cives M, Guarini A, Vegliante MC, Ciavarella S, Frampton J, Volpe G. Negri A, et al. Among authors: mandriani b. Cell Death Dis. 2023 Nov 23;14(11):763. doi: 10.1038/s41419-023-06276-z. Cell Death Dis. 2023. PMID: 37996430 Free PMC article.
The psychological impact of COVID-19 pandemic on patients with neuroendocrine tumors: Between resilience and vulnerability.
Lauricella E, Cives M, Bracigliano A, Clemente O, Felici V, Lippolis R, Amoruso B, Pelle' E, Mandriani B, Esposto C, Forte C, Perri F, Porta C, Tafuto S. Lauricella E, et al. Among authors: mandriani b. J Neuroendocrinol. 2021 Sep 20;33(10):e13041. doi: 10.1111/jne.13041. Online ahead of print. J Neuroendocrinol. 2021. PMID: 34596289 Free PMC article.
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains.
Di Rienzo M, Antonioli M, Fusco C, Liu Y, Mari M, Orhon I, Refolo G, Germani F, Corazzari M, Romagnoli A, Ciccosanti F, Mandriani B, Pellico MT, De La Torre R, Ding H, Dentice M, Neri M, Ferlini A, Reggiori F, Kulesz-Martin M, Piacentini M, Merla G, Fimia GM. Di Rienzo M, et al. Among authors: mandriani b. Sci Adv. 2019 May 8;5(5):eaau8857. doi: 10.1126/sciadv.aau8857. eCollection 2019 May. Sci Adv. 2019. PMID: 31123703 Free PMC article.
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Among authors: mandriani b. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 Free PMC article.
23 results