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Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: scietti l. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
New mechanistic insights to PLOD1-mediated human vascular disease.
Koenig SN, Cavus O, Williams J, Bernier M, Tonniges J, Sucharski H, Dew T, Akel M, Baker P, Madiai F, De Giorgi F, Scietti L, Faravelli S, Forneris F, Mohler PJ, Bradley EA. Koenig SN, et al. Among authors: scietti l. Transl Res. 2022 Jan;239:1-17. doi: 10.1016/j.trsl.2021.08.002. Epub 2021 Aug 13. Transl Res. 2022. PMID: 34400365 Free PMC article.
Modeling of Protein Complexes.
Scietti L, Forneris F. Scietti L, et al. Methods Mol Biol. 2023;2627:349-371. doi: 10.1007/978-1-0716-2974-1_20. Methods Mol Biol. 2023. PMID: 36959458
18 results