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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Costantini A, et al. Among authors: tonelli f. J Bone Miner Res. 2021 Feb;36(2):283-297. doi: 10.1002/jbmr.4177. Epub 2020 Oct 13. J Bone Miner Res. 2021. PMID: 32916022 Free PMC article.
Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders.
Tonelli F, Bek JW, Besio R, De Clercq A, Leoni L, Salmon P, Coucke PJ, Willaert A, Forlino A. Tonelli F, et al. Front Endocrinol (Lausanne). 2020 Jul 31;11:489. doi: 10.3389/fendo.2020.00489. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32849280 Free PMC article. Review.
Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta.
Forte-Gomez HF, Gioia R, Tonelli F, Kobbe B, Koch P, Bloch W, Paulsson M, Zaucke F, Forlino A, Wagener R. Forte-Gomez HF, et al. Among authors: tonelli f. Front Endocrinol (Lausanne). 2022 Nov 14;13:1000662. doi: 10.3389/fendo.2022.1000662. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36452329 Free PMC article.
Zebrafish Tric-b is required for skeletal development and bone cells differentiation.
Tonelli F, Leoni L, Daponte V, Gioia R, Cotti S, Fiedler IAK, Larianova D, Willaert A, Coucke PJ, Villani S, Busse B, Besio R, Rossi A, Witten PE, Forlino A. Tonelli F, et al. Front Endocrinol (Lausanne). 2023 Jan 23;14:1002914. doi: 10.3389/fendo.2023.1002914. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36755921 Free PMC article.
Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.
Daponte V, Tonelli F, Masiero C, Syx D, Exbrayat-Héritier C, Biggiogera M, Willaert A, Rossi A, Coucke PJ, Ruggiero F, Forlino A. Daponte V, et al. Among authors: tonelli f. Matrix Biol. 2023 Aug;121:105-126. doi: 10.1016/j.matbio.2023.06.003. Epub 2023 Jun 17. Matrix Biol. 2023. PMID: 37336269 Free article.
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.
Gioia R, Tonelli F, Ceppi I, Biggiogera M, Leikin S, Fisher S, Tenedini E, Yorgan TA, Schinke T, Tian K, Schwartz JM, Forte F, Wagener R, Villani S, Rossi A, Forlino A. Gioia R, et al. Among authors: tonelli f. Hum Mol Genet. 2017 Aug 1;26(15):2897-2911. doi: 10.1093/hmg/ddx171. Hum Mol Genet. 2017. PMID: 28475764 Free PMC article.
385 results