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Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype.
Marchionni E, D'Apice MR, Lupo V, Lattanzi G, Mattioli E, Lisignoli G, Gabusi E, Pepe G, Helmer Citterich M, Campione E, Nardone AM, Spitalieri P, Pucci N, Cocciadiferro D, Picchi E, Garaci F, Novelli A, Novelli G. Marchionni E, et al. Among authors: mattioli e. Bone Rep. 2023 Nov 27;19:101728. doi: 10.1016/j.bonr.2023.101728. eCollection 2023 Dec. Bone Rep. 2023. PMID: 38076483 Free PMC article.
Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.
Schena E, Mattioli E, Peres C, Zanotti L, Morselli P, Iozzo P, Guzzardi MA, Bernardini C, Forni M, Nesci S, Caprio M, Cecchetti C, Pagotto U, Gabusi E, Cattini L, Lisignoli G, Blalock W, Gambineri A, Lattanzi G. Schena E, et al. Among authors: mattioli e. Cells. 2023 Nov 7;12(22):2586. doi: 10.3390/cells12222586. Cells. 2023. PMID: 37998321 Free PMC article.
Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.
Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G. Capanni C, et al. Among authors: mattioli e. Exp Cell Res. 2003 Nov 15;291(1):122-34. doi: 10.1016/s0014-4827(03)00395-1. Exp Cell Res. 2003. PMID: 14597414
102 results