{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T08:24:08Z","timestamp":1786955048309,"version":"build-2736575974"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ERN BOND\u2014the European Reference Network for rare BONe Diseases"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility. It is one of the most prevalent rare skeletal dysplasias. The mildest form, OI type 1, predominantly results from collagen type I haploinsufficiency due to pathogenic variants in the COL1A1 gene, leading to reduced collagen type I. Despite OI type 1 representing approximately half of the OI population, the lack of an effective mouse model has hindered research and therapy development. To address this gap, we developed a genetically engineered mouse model harboring a heterozygous deletion of the Col1a1 allele using the CRISPR\/Cas system. The bone phenotype was characterized in 8- and 24-wk-old mice, assessing transcriptomics and serum markers for bone formation (procollagen type I N-terminal propeptide) and resorption (tartrate-resistant acid phosphatase 5b). Bone volume, microarchitecture, and strength were evaluated by micro-CT, histomorphometry, and three-point bending test. We showed that the decreased Col1a1 to Col1a2 mRNA ratio determines reduced collagen type I production in OI mice bones as the underlying mechanism of haploinsufficient OI. This was supported by COL1A1 to COL1A2 mRNA ratio findings in human OI cell models, including fibroblasts and induced mesenchymal stem cells, as well as in induced pluripotent and mesenchymal stem cell models that were edited to carry a heterozygous COL1A1 allele. Our findings indicate for the first time that reduced bone volume and altered bone microarchitecture in haploinsufficient OI depends on the Col1a1 to Col1a2 mRNA ratio regulation. This novel mouse model faithfully recapitulates OI type 1 and provides a vital tool for investigating the disease mechanism and developing targeted therapeutic strategies for this large neglected OI patient population.<\/jats:p>","DOI":"10.1093\/jbmr\/zjaf138","type":"journal-article","created":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T11:55:14Z","timestamp":1759492514000},"page":"565-580","source":"Crossref","is-referenced-by-count":1,"title":["New lens on congenital mild bone fragility: a novel\n                    <i>Col1a1<\/i>\n                    knockout mouse model for osteogenesis imperfecta type 1"],"prefix":"10.1093","volume":"41","author":[{"given":"Lidiia","family":"Zhytnik","sequence":"first","affiliation":[{"name":"Department of Traumatology and Orthopaedics, The University of Tartu , 50410 Tartu ,","place":["Estonia"]},{"name":"Department of Human Genetics, Amsterdam UMC Location VUmc , 1081 HZ Amsterdam ,","place":["The Netherlands"]},{"name":"Rare Bone Disease Center Amsterdam , 1081 HV Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Reproduction and Development , Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Movement Sciences , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-1732-6618","authenticated-orcid":false,"given":"Laura","family":"Ventura","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam UMC Location VUmc , 1081 HZ Amsterdam ,","place":["The Netherlands"]},{"name":"Rare Bone Disease Center Amsterdam , 1081 HV Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Reproduction and Development , Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Movement Sciences , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Sclocco","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam UMC Location VUmc , 1081 HZ Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthjis","family":"Verhage","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Center for Neurogenomics and Cognitive Research, University Medical Center Amsterdam , 1081 HV Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid D","family":"Bakker","sequence":"additional","affiliation":[{"name":"Department of Oral Cell Biology, Academic Centre for Dentistry Amsterdam (ACTA), University of Amsterdam and Vrije Universiteit Amsterdam , 1081 LA Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae-Hyuck","family":"Shim","sequence":"additional","affiliation":[{"name":"Department of Cellular and Genetic Medicine, Horae Gene Therapy Center, University of Massachusetts Medical School , Worcester, MA 01655 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wissam","family":"Beaino","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, UMC Location, Vrije Universiteit Amsterdam , 1081 HV, Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Neuroscience, Brain Imaging , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro M","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, UMC Location, Vrije Universiteit Amsterdam , 1081 HV, Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Neuroscience, Brain Imaging , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myrthe E","family":"Hoogeland","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Amsterdam UMC Location, University of Amsterdam, Amsterdam Cardiovascular Sciences, Atherosclerosis and Ischaemic Syndromes , 1105 AZ Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivi M","family":"Heine","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Amsterdam UMC Location, Vrije Universiteit Amsterdam, Amsterdam Neuroscience , 1081 HV Amsterdam ,","place":["The Netherlands"]},{"name":"Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience , 1081 HV Amsterdam ,","place":["The Netherland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huub","family":"Maas","sequence":"additional","affiliation":[{"name":"Amsterdam Movement Sciences , Amsterdam ,","place":["The Netherlands"]},{"name":"Department of Human Movement Science, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam , 1081 HZ Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard T","family":"Jaspers","sequence":"additional","affiliation":[{"name":"Amsterdam Movement Sciences , Amsterdam ,","place":["The Netherlands"]},{"name":"Department of Human Movement Science, Faculty of Behavioral and Movement Sciences, Vrije Universiteit Amsterdam , 1081 HZ Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4165-0929","authenticated-orcid":false,"given":"Anja","family":"Niehoff","sequence":"additional","affiliation":[{"name":"Institute of Biomechanics and Orthopaedics, German Sport University Cologne , 50933 K\u00f6ln ,","place":["Germany"]},{"name":"Cologne Center for Musculoskeletal Biomechanics, Faculty of Medicine and University Hospital Cologne, University of Cologne , 50931 K\u00f6ln ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Zaucke","sequence":"additional","affiliation":[{"name":"Dr. Rolf M. Schwiete Research Unit for Osteoarthritis, Department of Trauma Surgery and Orthopaedics, University Hospital, Goethe University Frankfurt , 60528 Frankfurt am Main ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"de Waard","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry, Amsterdam UMC Location, University of Amsterdam, Amsterdam Cardiovascular Sciences, Atherosclerosis and Ischaemic Syndromes , 1105 AZ Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E Marelise W","family":"Eekhoff","sequence":"additional","affiliation":[{"name":"Rare Bone Disease Center Amsterdam , 1081 HV Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Reproduction and Development , Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Movement Sciences , Amsterdam ,","place":["The Netherlands"]},{"name":"Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit , 1081 HV Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7890-4411","authenticated-orcid":false,"given":"Dimitra","family":"Micha","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam UMC Location VUmc , 1081 HZ Amsterdam ,","place":["The Netherlands"]},{"name":"Rare Bone Disease Center Amsterdam , 1081 HV Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Reproduction and Development , Amsterdam ,","place":["The Netherlands"]},{"name":"Amsterdam Movement Sciences , Amsterdam ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,10,6]]},"reference":[{"key":"2026081703272371200_ref2","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini","year":"2017","journal-title":"Nat Rev Dis Primers"},{"issue":"8","key":"2026081703272371200_ref3","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1038\/ejhg.2015.81","article-title":"Genetic epidemiology, prevalence, and genotype\u2013phenotype correlations in the Swedish population with osteogenesis imperfecta","volume":"23","author":"Lindahl","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2026081703272371200_ref4","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1146\/annurev.bi.64.070195.002155","article-title":"Collagens: molecular biology, diseases, and potentials for therapy","volume":"64","author":"Prockop","journal-title":"Annu Rev Biochem"},{"key":"2026081703272371200_ref5","author":"Makareeva","year":"2014"},{"issue":"8","key":"2026081703272371200_ref6","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1007\/s00439-021-02302-2","article-title":"Collagen transport and related pathways in osteogenesis imperfecta","volume":"140","author":"Claeys","year":"2021","journal-title":"Hum Genet"},{"issue":"12","key":"2026081703272371200_ref7","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1016\/j.addr.2003.08.002","article-title":"Collagens--structure, function, and biosynthesis","volume":"55","author":"Gelse","year":"2003","journal-title":"Adv Drug Deliv Rev"},{"key":"2026081703272371200_ref8","doi-asserted-by":"crossref","DOI":"10.1007\/s00223-024-01248-7","article-title":"A dyadic nosology for osteogenesis imperfecta and bone fragility syndromes 2024","author":"Sillence","year":"2024","journal-title":"Calcif Tissue Int"},{"issue":"8072","key":"2026081703272371200_ref9","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/S0140-6736(78)90763-8","article-title":"Classification of osteogenesis imperfect","volume":"1","author":"Sillence","year":"1978","journal-title":"Lancet"},{"issue":"1","key":"2026081703272371200_ref10","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s40246-017-0115-5","article-title":"Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients","volume":"11","author":"Zhytnik","year":"2017","journal-title":"Hum Genom"},{"key":"2026081703272371200_ref11","first-page":"125","author":"Byers","year":"2014"},{"issue":"9","key":"2026081703272371200_ref12","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1002\/jbmr.1942","article-title":"Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1","volume":"28","author":"Ben Amor","year":"2013","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2026081703272371200_ref13","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1093\/nar\/26.1.253","article-title":"The Human Collagen Mutation Database 1998","volume":"26","author":"Dalgleish","year":"1998","journal-title":"Nucleic Acids Res"},{"issue":"2","key":"2026081703272371200_ref1","doi-asserted-by":"publisher","first-page":"281","DOI":"10.3390\/biom13020281","article-title":"From genetics to clinical implications: a study of 675 Dutch osteogenesis imperfecta patients","volume":"13","author":"Storoni","year":"2023","journal-title":"Biomolecules"},{"issue":"11","key":"2026081703272371200_ref14","doi-asserted-by":"publisher","first-page":"736","DOI":"10.1097\/GIM.0b013e3181f01617","article-title":"Complete COL1A1 allele deletions in osteogenesis imperfecta","volume":"12","author":"van Dijk","year":"2010","journal-title":"Genet Med"},{"issue":"1","key":"2026081703272371200_ref15","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/s00223-015-0066-6","article-title":"Osteogenesis imperfecta type I caused by COL1A1 deletions","volume":"98","author":"Bardai","year":"2016","journal-title":"Calcif Tissue Int"},{"key":"2026081703272371200_ref16","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2023.1145125","article-title":"Exploration of the skeletal phenotype of the Col1a1+\/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1","volume":"14","author":"Claeys","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"2026081703272371200_ref17","doi-asserted-by":"crossref","first-page":"184","DOI":"10.3390\/ijms24010184","article-title":"Murine animal models in osteogenesis imperfecta: the quest for improving the quality of life","volume":"24","author":"Alcorta-Sevillano","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"7","key":"2026081703272371200_ref18","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1093\/jbmr\/zjaf068","article-title":"Anti-transforming growth factor-\u03b2 treatment shows increased bone mass and strength in a novel mouse model for osteogenesis imperfecta type I","volume":"40","author":"Busschers","year":"2025","journal-title":"J Bone Miner Res"},{"key":"2026081703272371200_ref19","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.bone.2019.07.021","article-title":"A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I","volume":"127","author":"Liu","year":"2019","journal-title":"Bone"},{"issue":"1","key":"2026081703272371200_ref20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-021-27423-0","article-title":"Cellular variability of nonsense-mediated mRNA decay","volume":"12","author":"Sato","year":"2021","journal-title":"Nat Commun"},{"issue":"6","key":"2026081703272371200_ref21","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1002\/jbmr.2539","article-title":"Establishing biomechanical mechanisms in mouse models: practical guidelines for systematically evaluating phenotypic changes in the diaphyses of long bones","volume":"30","author":"Jepsen","year":"2015","journal-title":"J Bone Miner Res"},{"issue":"5","key":"2026081703272371200_ref22","doi-asserted-by":"crossref","first-page":"550","DOI":"10.3109\/10715762.2011.555483","article-title":"Effect of exercise on bone and articular cartilage in heterozygous manganese superoxide dismutase (SOD2) deficient mice","volume":"45","author":"Baur","year":"2011","journal-title":"Free Radic Res"},{"issue":"1","key":"2026081703272371200_ref23","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1002\/jbmr.1805","article-title":"Standardized nomenclature, symbols, and units for bone histomorphometry: a 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee","volume":"28","author":"Dempster","year":"2013","journal-title":"J Bone Miner Res"},{"issue":"2","key":"2026081703272371200_ref24","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.bbrc.2019.09.081","article-title":"An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos syndrome patients","volume":"521","author":"Micha","year":"2020","journal-title":"Biochem Biophys Res Commun"},{"issue":"6","key":"2026081703272371200_ref25","doi-asserted-by":"crossref","first-page":"3417","DOI":"10.3390\/ijms25063417","article-title":"In vitro modelling of osteogenesis imperfecta with patient-derived induced mesenchymal stem cells","volume":"25","author":"Claeys","year":"2024","journal-title":"Int J Mol Sci"},{"key":"2026081703272371200_ref26","author":"Switch gene - Osteogenesis Imperfecta Variant Database - Leiden Open Variation Database [Internet]"},{"issue":"1","key":"2026081703272371200_ref27","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1186\/s13023-024-03126-9","article-title":"The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers","volume":"19","author":"Westerheim","year":"2024","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"2026081703272371200_ref28","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1093\/jbmr\/zjad004","article-title":"RNA-based bone histomorphometry: method and its application to explaining postpubertal bone gain in a G610C mouse model of osteogenesis imperfecta","volume":"39","author":"Makareeva","year":"2024","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2026081703272371200_ref29","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1359\/JBMR.040111","article-title":"Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength","volume":"19","author":"Kozloff","year":"2004","journal-title":"J Bone Miner Res"},{"issue":"11","key":"2026081703272371200_ref30","doi-asserted-by":"crossref","first-page":"ziae112","DOI":"10.1093\/jbmrpl\/ziae112","article-title":"Osteoclast indices in osteogenesis imperfecta: systematic review and meta-analysis","volume":"8","author":"Aksornthong","year":"2024","journal-title":"JBMR Plus"},{"issue":"6","key":"2026081703272371200_ref31","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1373\/clinchem.2006.083055","article-title":"Bone formation markers in adults with mild osteogenesis imperfecta","volume":"53","author":"Cundy","year":"2007","journal-title":"Clin Chem"},{"issue":"3","key":"2026081703272371200_ref32","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.bone.2008.11.006","article-title":"Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: associations with collagen gene mutations","volume":"44","author":"Garnero","year":"2009","journal-title":"Bone"},{"issue":"2","key":"2026081703272371200_ref33","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s40618-023-02179-0","article-title":"Bone fragility and osteoporosis in children and young adults","volume":"47","author":"Formosa","year":"2024","journal-title":"J Endocrinol Investig"},{"key":"2026081703272371200_ref34","doi-asserted-by":"crossref","DOI":"10.1016\/j.cellsig.2020.109789","article-title":"Signaling pathways affected by mutations causing osteogenesis imperfecta","volume":"76","author":"Etich","year":"2020","journal-title":"Cell Signal"},{"issue":"10","key":"2026081703272371200_ref35","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22105290","article-title":"Calvaria bone transcriptome in mouse models of osteogenesis imperfecta","volume":"22","author":"Moffatt","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"1","key":"2026081703272371200_ref36","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3109\/07853890109002055","article-title":"Collagens and collagen-related diseases","volume":"33","author":"Myllyharju","year":"2001","journal-title":"Ann Med"},{"issue":"5","key":"2026081703272371200_ref37","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/jemt.20564","article-title":"Mammalian collagen IV","volume":"71","author":"Khoshnoodi","year":"2008","journal-title":"Microsc Res Tech"},{"issue":"2","key":"2026081703272371200_ref38","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/0014-5793(93)80006-G","article-title":"Downregulation of collagen synthesis in fibroblasts within three-dimensional collagen lattices involves transcriptional and posttranscriptional mechanisms","volume":"318","author":"Eckes","year":"1993","journal-title":"FEBS Lett"},{"issue":"12","key":"2026081703272371200_ref39","doi-asserted-by":"crossref","first-page":"10004","DOI":"10.3390\/ijms241210004","article-title":"Reviewing the regulators of COL1A1","volume":"24","author":"Devos","year":"2023","journal-title":"Int J Mol Sci"},{"issue":"4","key":"2026081703272371200_ref40","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.115.138115","article-title":"Epigenetic modulation of collagen 1A1: therapeutic implications in fibrosis and endometriosis","volume":"94","author":"Zheng","year":"2016","journal-title":"Biol Reprod"},{"issue":"7","key":"2026081703272371200_ref41","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1172\/JCI10347","article-title":"A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality","volume":"107","author":"Mann","year":"2001","journal-title":"J Clin Invest"},{"issue":"1","key":"2026081703272371200_ref42","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-017-10343-9","article-title":"An ENU-induced splice site mutation of mouse Col1a1 causing recessive osteogenesis imperfecta and revealing a novel splicing rescue","volume":"7","author":"Tabeta","year":"2017","journal-title":"Sci Rep"},{"issue":"SUPP_11","key":"2026081703272371200_ref43","first-page":"21","article-title":"How does the inflammatory mediator TGF-beta regulate the synthesis of degradation-resistant type I collagen?","volume":"97-B","author":"Gumbs","year":"2015","journal-title":"Bone Joint"},{"issue":"6","key":"2026081703272371200_ref44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/ar2101","article-title":"Differential gene expression of bone anabolic factors and trabecular bone architectural changes in the proximal femoral shaft of primary hip osteoarthritis patients","volume":"8","author":"Truong","year":"2006","journal-title":"Arthritis Res Ther"},{"issue":"29","key":"2026081703272371200_ref45","doi-asserted-by":"crossref","first-page":"22276","DOI":"10.1074\/jbc.M110.102079","article-title":"Molecular mechanism of type I collagen homotrimer resistance to mammalian collagenases","volume":"285","author":"Han","year":"2010","journal-title":"J Biol Chem"},{"issue":"8","key":"2026081703272371200_ref46","doi-asserted-by":"crossref","first-page":"5142","DOI":"10.1073\/pnas.78.8.5142","article-title":"Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta","volume":"78","author":"Barsh","year":"1981","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"2026081703272371200_ref47","first-page":"15","article-title":"Polymeric collagen of skin in osteogenesis imperfecta, homocystinuria and Ehlers-Danlos and Marfan syndromes","volume":"11","author":"Francis","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"7","key":"2026081703272371200_ref48","doi-asserted-by":"crossref","first-page":"e36","DOI":"10.1136\/jmg.2005.038224","article-title":"Total absence of the \u03b12(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems","volume":"43","author":"Malfait","year":"2006","journal-title":"J Med Genet"},{"issue":"5","key":"2026081703272371200_ref49","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/0092-8674(89)90795-2","article-title":"Retrovirus-induced insertional mutation in Mov13 mice affects collagen I expression in a tissue-specific manner","volume":"57","author":"Kratochwil","year":"1989","journal-title":"Cell"},{"issue":"24","key":"2026081703272371200_ref50","doi-asserted-by":"crossref","first-page":"11866","DOI":"10.1073\/pnas.1900437116","article-title":"Why haploinsufficiency persists","volume":"116","author":"Morrill","year":"2019","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjaf138\/64519473\/zjaf138.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/41\/5\/565\/64519473\/zjaf138.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/41\/5\/565\/64519473\/zjaf138.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T07:27:33Z","timestamp":1786951653000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/41\/5\/565\/8275836"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,6]]},"references-count":50,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,10,6]]},"published-print":{"date-parts":[[2026,4,26]]}},"URL":"https:\/\/doi.org\/10.1093\/jbmr\/zjaf138","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,5]]},"published":{"date-parts":[[2025,10,6]]}}}