{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T03:12:36Z","timestamp":1787886756066,"version":"build-2784847793"},"reference-count":89,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T00:00:00Z","timestamp":1652659200000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Ministero dell'Istruzione, dell'Universit\u00e0 e della Ricerca"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["1R21HD106607-01"],"award-info":[{"award-number":["1R21HD106607-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1 and COL1A2 genes that encode the \u03b11(I) and \u03b12(I) collagen chains. Mutant collagen is partially retained intracellularly, impairing cell homeostasis. Upon secretion, it assembles in disorganized fibrils, altering mineralization. OI is characterized by a wide range of clinical outcomes, even in the presence of identical sequence variants. Given the heterotrimeric nature of collagen I, its amino acid composition and the peculiarity of its folding, several causes may underlie the phenotypic variability of OI. A deep analysis of entries regarding glycine and splice site collagen substitution of the largest publicly available patient database reveals a higher risk of lethal phenotype for carriers of variants in \u03b11(I) than in \u03b12(I) chain. However, splice site variants are predominantly associated with lethal phenotype when they occur in COL1A2. In addition, lethality is increased when mutations occur in regions of importance for extracellular matrix interactions. Both extracellular and intracellular determinants of OI clinical severity are discussed in light of the findings from in vitro and in vivo OI models. Combined with meticulous tracking of clinical cases via a publicly available database, the available OI animal models have proven to be a unique tool to shed light on new modulators of phenotype determination for this rare heterogeneous disease.<\/jats:p>","DOI":"10.1242\/dmm.049398","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T04:39:39Z","timestamp":1652675979000},"source":"Crossref","is-referenced-by-count":64,"title":["Dissecting the phenotypic variability of osteogenesis imperfecta"],"prefix":"10.1242","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0353-537X","authenticated-orcid":false,"given":"Nadia","family":"Garibaldi","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, Biochemistry Unit, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1430-2934","authenticated-orcid":false,"given":"Roberta","family":"Besio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Biochemistry Unit, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7667-187X","authenticated-orcid":false,"given":"Raymond","family":"Dalgleish","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 7RH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2517-6515","authenticated-orcid":false,"given":"Simona","family":"Villani","sequence":"additional","affiliation":[{"name":"Department of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8021-4997","authenticated-orcid":false,"given":"Aileen M.","family":"Barnes","sequence":"additional","affiliation":[{"name":"Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, 20892 Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3685-0950","authenticated-orcid":false,"given":"Joan C.","family":"Marini","sequence":"additional","affiliation":[{"name":"Section on Heritable Disorders of Bone and Extracellular Matrix, NICHD, NIH, 20892 Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6385-1182","authenticated-orcid":false,"given":"Antonella","family":"Forlino","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Biochemistry Unit, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,5,16]]},"reference":[{"key":"2022051608393166700_DMM049398C1","doi-asserted-by":"publisher","first-page":"1330","DOI":"10.1359\/jbmr.2000.15.7.1330","article-title":"Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing","volume":"15","author":"Bank","year":"2000","journal-title":"J. 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