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Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.
Bianchi L, Gagliardi A, Maruelli S, Besio R, Landi C, Gioia R, Kozloff KM, Khoury BM, Coucke PJ, Symoens S, Marini JC, Rossi A, Bini L, Forlino A. Bianchi L, et al. Among authors: maruelli s. Hum Mol Genet. 2015 Nov 1;24(21):6118-33. doi: 10.1093/hmg/ddv328. Epub 2015 Aug 11. Hum Mol Genet. 2015. PMID: 26264579 Free PMC article.
Lack of prolidase causes a bone phenotype both in human and in mouse.
Besio R, Maruelli S, Gioia R, Villa I, Grabowski P, Gallagher O, Bishop NJ, Foster S, De Lorenzi E, Colombo R, Diaz JL, Moore-Barton H, Deshpande C, Aydin HI, Tokatli A, Kwiek B, Kasapkara CS, Adisen EO, Gurer MA, Di Rocco M, Phang JM, Gunn TM, Tenni R, Rossi A, Forlino A. Besio R, et al. Among authors: maruelli s. Bone. 2015 Mar;72:53-64. doi: 10.1016/j.bone.2014.11.009. Epub 2014 Nov 20. Bone. 2015. PMID: 25460580
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O. Vetro A, et al. Among authors: maruelli s. Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15. Eur J Hum Genet. 2017. PMID: 28198391 Free PMC article.