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maria mascaro
(2 results)?
The MID1 gene product in physiology and disease.
Gene. 2020 Jul 15;747:144655. doi: 10.1016/j.gene.2020.144655. Epub 2020 Apr 10.
Gene. 2020.
PMID: 32283114
Free PMC article.
Review.
Microtubular TRIM36 E3 Ubiquitin Ligase in Embryonic Development and Spermatogenesis.
Mascaro M, Lages I, Meroni G.
Mascaro M, et al.
Cells. 2022 Jan 12;11(2):246. doi: 10.3390/cells11020246.
Cells. 2022.
PMID: 35053362
Free PMC article.
Review.
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SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.
Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, Dias P, Mascaro M, Licastro D, Meroni G.
Migliore C, et al. Among authors: mascaro m.
Genes (Basel). 2022 Jan 28;13(2):252. doi: 10.3390/genes13020252.
Genes (Basel). 2022.
PMID: 35205294
Free PMC article.
Item in Clipboard
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.
Micale L, Russo F, Mascaro M, Morlino S, Nardella G, Fusco C, Bisceglia L, Meroni G, Castori M.
Micale L, et al. Among authors: mascaro m.
Pediatr Res. 2023 Apr;93(5):1208-1215. doi: 10.1038/s41390-022-02237-y. Epub 2022 Aug 11.
Pediatr Res. 2023.
PMID: 35953512
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A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs.
Mascaro M, D'Ambrosio L, Lazzari E, Almoguera B, Swafiri ST, Zanchetta ME, Meroni G.
Mascaro M, et al.
Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167126. doi: 10.1016/j.bbadis.2024.167126. Epub 2024 Mar 18.
Biochim Biophys Acta Mol Basis Dis. 2024.
PMID: 38508475
Free article.
No abstract available.
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