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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: forlino a. 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.
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V. Nizon M, et al. Among authors: forlino a. Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22539336 Free PMC article.
Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.
Paganini C, Monti L, Costantini R, Besio R, Lecci S, Biggiogera M, Tian K, Schwartz JM, Huber C, Cormier-Daire V, Gibson BG, Pirog KA, Forlino A, Rossi A. Paganini C, et al. Among authors: forlino a. Matrix Biol. 2019 Aug;81:70-90. doi: 10.1016/j.matbio.2018.11.002. Epub 2018 Nov 12. Matrix Biol. 2019. PMID: 30439444 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. Among authors: forlino a. 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.
122 results