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2018 3
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2022 3
2023 3
2024 0

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Page 1
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Maria Turco E, Maria Giada Giovenale A, Rotundo G, Mazzoni M, Zanfardino P, Frezza K, Torrente I, Mary Carletti R, Damiani D, Santorelli FM, Luigi Vescovi A, Petruzzella V, Rosati J. Maria Turco E, et al. Stem Cell Res. 2022 Dec;65:102946. doi: 10.1016/j.scr.2022.102946. Epub 2022 Oct 17. Stem Cell Res. 2022. PMID: 36272304 Free article.
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Rotundo G, Turco EM, Ruotolo G, Torrente I, Candido O, Lopez G, Ferrari D, Caputi C, Mastrangelo M, Pisani F, Gelati M, Guarnieri V, Vescovi AL, Rosati J. Rotundo G, et al. Among authors: turco em. Stem Cell Res. 2023 Mar;67:103023. doi: 10.1016/j.scr.2023.103023. Epub 2023 Jan 7. Stem Cell Res. 2023. PMID: 36638628 Free article.
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
Turco EM, Vinci E, Altieri F, Ferrari D, Torres B, Goldoni M, Lamorte G, Tata AM, Mazzoccoli G, Postorivo D, Della Monica M, Bernardini L, Vescovi AL, Rosati J. Turco EM, et al. Stem Cell Res. 2018 Oct;32:73-77. doi: 10.1016/j.scr.2018.09.002. Epub 2018 Sep 6. Stem Cell Res. 2018. PMID: 30218896 Free article.
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith-Magenis syndrome.
Altieri F, Turco EM, Vinci E, Torres B, Ferrari D, De Jaco A, Mazzoccoli G, Lamorte G, Nardone A, Della Monica M, Bernardini L, Vescovi AL, Rosati J. Altieri F, et al. Among authors: turco em. Stem Cell Res. 2018 Apr;28:153-156. doi: 10.1016/j.scr.2018.02.016. Epub 2018 Feb 21. Stem Cell Res. 2018. PMID: 29494847 Free article.