{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T07:20:24Z","timestamp":1768634424664,"version":"3.49.0"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,22]],"date-time":"2016-01-22T00:00:00Z","timestamp":1453420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81271116"],"award-info":[{"award-number":["81271116"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81470728"],"award-info":[{"award-number":["81470728"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Anatomical Record"],"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:title>ABSTARCT<\/jats:title><jats:p>Although many studies have attempted to associate specific gene mutations with dentin phenotypic severity, it remains unknown how the mutations in <jats:italic>COL1A1<\/jats:italic> gene influence the mechanical behavior of dentin collagen and matrix. Here, we reported one osteogenesis imperfecta (OI) pedigree caused by two new inserting mutations in exon 5 of <jats:italic>COL1A1<\/jats:italic> (NM_000088.3:c.440_441insT;c.441_442insA), which resulted in the unstable expression of <jats:italic>COL1A1<\/jats:italic> mRNA and half quantity of procollagen production. We investigated the morphological and mechanical features of proband's dentin using atomic force microscope (AFM), scanning electron microscope, and transmission electron microscope. Increased D\u2010periodic spacing, variably enlarged collagen fibrils coating with fewer minerals were found in the mutated collagen. AFM analysis demonstrated rougher dentin surface and sparsely decreased Young's modulus in proband's dentin. We believe that our findings provide new insights into the genetic\u2010\/nano\u2010 mechanisms of dentin diseases, and may well explain OI dentin features with reduced mechanical strength and a lower crosslinked density. Anat Rec, 299:511\u2013519, 2016. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ar.23308","type":"journal-article","created":{"date-parts":[[2015,12,22]],"date-time":"2015-12-22T11:15:11Z","timestamp":1450782911000},"page":"511-519","source":"Crossref","is-referenced-by-count":13,"title":["Mutations in <i>COL1A1<\/i> Gene Change Dentin Nanostructure"],"prefix":"10.1002","volume":"299","author":[{"given":"Xiaohong","family":"Duan","sequence":"first","affiliation":[{"name":"State Key Laboratory of Military Stomatology Department of Oral Biology Clinic of Oral Rare Diseases and Genetic Diseases The Fourth Military Medical University Xi'an Shaanxi People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenxia","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology Department of Oral Biology Clinic of Oral Rare Diseases and Genetic Diseases The Fourth Military Medical University Xi'an 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