{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T01:46:34Z","timestamp":1793065594254,"version":"4.5.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,7,12]],"date-time":"2026-07-12T00:00:00Z","timestamp":1783814400000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Lawrence Family Bone Disease Program Research Award"},{"DOI":"10.13039\/100000005","name":"Department of Defense","doi-asserted-by":"publisher","award":["PR240694"],"award-info":[{"award-number":["PR240694"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Austrian Social Health Insurance Fund"},{"DOI":"10.13039\/501100007146","name":"Austrian Workers' Compensation Board","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007146","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Pamela and David Ott Center of Excellence in Heritable Disorders of Connective Tissue and Ehlers-Danlos Syndrome"},{"name":"Lawrence Family Bone Disease Program Research Award"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Type V collagen is a key regulator in the formation of type I collagen fibrils in connective tissues including skin, tendons, and bones. Abnormalities in type V collagen cause classical Ehlers-Danlos syndrome (EDS), a connective tissue disorder with primarily skin and joint phenotype. There are several clinical reports suggesting increased prevalence of vertebral fractures in adults with EDS, among them individuals with classical EDS. Yet, the literature lacks data about bone health specifically in the classical EDS patient population. The Col5a1 haploinsufficient mouse model (Col5a1+\/\u2212) recapitulates the human disease phenotype with hyperextensible and fragile skin, delayed wound healing, and tendons with reduced tensile strength. The bone phenotype in this model is unknown. Here, we present a comprehensive bone phenotyping of this model using 3-point bending, vertebral compression studies, micro-CT analysis, Raman spectroscopy, and quantitative backscattered electron imaging to test bone quantity, quality, composition, and mineralization density distribution. We found no difference in all parameters tested between Col5a1+\/\u2212 and Col5a1+\/+ mice 8\u00a0weeks and 6\u00a0months old in both sexes. Bulk RNA sequencing in tibiae from 8-week-old males identified only minimal changes in gene expression. Our results show that the Col5a1 haploinsufficient mouse model does not have a significant bone phenotype and suggest that individuals with heterozygote loss of function variants in COL5A1 may not have a higher risk for fractures due to primary bone abnormality.<\/jats:p>","DOI":"10.1093\/jbmr\/zjag110","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T11:55:41Z","timestamp":1783598141000},"source":"Crossref","is-referenced-by-count":1,"title":["Bone phenotype in a mouse model of classical Ehlers-Danlos syndrome with\n                    <i>Col5a1<\/i>\n                    haploinsufficiency"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0356-6889","authenticated-orcid":false,"given":"Keren","family":"Machol","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3866-0683","authenticated-orcid":false,"given":"Catherine G","family":"Ambrose","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, The University of Texas Health Science Center at Houston McGovern Medical School , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deidre N","family":"Meyers","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, The University of Texas Health Science Center at Houston McGovern Medical School , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1164-1877","authenticated-orcid":false,"given":"Nadja","family":"Fratzl-Zelman","sequence":"additional","affiliation":[{"name":"Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling , 1st Medical Department Hanusch Hospital, 1140 Vienna ,","place":["Austria"]},{"name":"Vienna Bone and Growth Center , Vienna ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Blouin","sequence":"additional","affiliation":[{"name":"Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling , 1st Medical Department Hanusch Hospital, 1140 Vienna ,","place":["Austria"]},{"name":"Vienna Bone and Growth Center , Vienna ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6046-0365","authenticated-orcid":false,"given":"Markus A","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling , 1st Medical Department Hanusch Hospital, 1140 Vienna ,","place":["Austria"]},{"name":"Vienna Bone and Growth Center , Vienna ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urszula","family":"Polak","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barakat","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1937-2300","authenticated-orcid":false,"given":"Duncan","family":"Crosby","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar E","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8573-4211","authenticated-orcid":false,"given":"Brendan H","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston TX 77030 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,7,12]]},"reference":[{"issue":"3","key":"2026081715164225400_ref1","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/s0968-4328(00)00043-3","article-title":"Type V collagen: heterotypic type I\/V collagen interactions in the regulation of fibril 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