{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T20:26:44Z","timestamp":1791404804855,"version":"4.3.3"},"reference-count":197,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T00:00:00Z","timestamp":1706313600000},"content-version":"vor","delay-in-days":1152,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2022,9,11]],"date-time":"2022-09-11T00:00:00Z","timestamp":1662854400000},"content-version":"vor","delay-in-days":649,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Austrian Social Health Insurance Fund"},{"name":"Folkh lsanin Tutkimuss ti"},{"name":"Konung Gustaf V:s och Drottning Victorias Frimurarestiftelsethe"},{"DOI":"10.13039\/501100011747","name":"Novo Nordisk Foundation Center for Basic Metabolic Research","doi-asserted-by":"publisher","award":["21322"],"award-info":[{"award-number":["21322"]}],"id":[{"id":"10.13039\/501100011747","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research funds of the Austrian workers compensation board"},{"name":"Sigrid Jus liuksen S ti"},{"name":"Stockholms L ns Landsting"},{"name":"Vetenskapsr det","award":["2018-02645; 2020-00587"],"award-info":[{"award-number":["2018-02645; 2020-00587"]}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9lius Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005930","name":"Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005930","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004348","name":"Stockholm County Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004348","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011747","name":"Novo Nordisk Foundation Center for Basic Metabolic Research","doi-asserted-by":"publisher","award":["21322"],"award-info":[{"award-number":["21322"]}],"id":[{"id":"10.13039\/501100011747","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005930","name":"ASCRS Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005930","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Fonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004348","name":"Stockholms L\u00e4ns Landsting","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004348","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Early-onset osteoporosis (EOOP), characterized by low bone mineral density (BMD) and fractures, affects children, premenopausal women and men aged &amp;lt;50 years. EOOP may be secondary to a chronic illness, long-term medication, nutritional deficiencies, etc. If no such cause is identified, EOOP is regarded primary and may then be related to rare variants in genes playing a pivotal role in bone homeostasis. If the cause remains unknown, EOOP is considered idiopathic. The scope of this review is to guide through clinical and genetic diagnostics of EOOP, summarize the present knowledge on rare monogenic forms of EOOP, and describe how analysis of bone biopsy samples can lead to a better understanding of the disease pathogenesis. The diagnostic pathway of EOOP is often complicated and extensive assessments may be needed to reliably exclude secondary causes. Due to the genetic heterogeneity and overlapping features in the various genetic forms of EOOP and other bone fragility disorders, the genetic diagnosis usually requires the use of next-generation sequencing to investigate several genes simultaneously. Recent discoveries have elucidated the complexity of disease pathogenesis both regarding genetic architecture and bone tissue-level pathology. Two rare monogenic forms of EOOP are due to defects in genes partaking in the canonical WNT pathway: LRP5 and WNT1. Variants in the genes encoding plastin-3 (PLS3) and sphingomyelin synthase 2 (SGMS2) have also been found in children and young adults with skeletal fragility. The molecular mechanisms leading from gene defects to clinical manifestations are often not fully understood. Detailed analysis of patient-derived transiliac bone biopsies gives valuable information to understand disease pathogenesis, distinguishes EOOP from other bone fragility disorders, and guides in patient management, but is not widely available in clinical settings. Despite the great advances in this field, EOOP remains an insufficiently explored entity and further research is needed to optimize diagnostic and therapeutic approaches. \u00a9 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4668","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T01:19:46Z","timestamp":1660180786000},"page":"1623-1641","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1408-9272","authenticated-orcid":false,"given":"Alice","family":"Costantini","sequence":"first","affiliation":[{"name":"Paris Cit\u00e9 University, INSERM UMR1163, Institut Imagine Paris France"},{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-3348","authenticated-orcid":false,"given":"Riikka E.","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery Helsinki University Hospital and University of Helsinki Helsinki Finland"},{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Institute of Genetics Helsinki Finland"}],"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":"Vienna Bone and Growth Center Vienna Austria"},{"name":"Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital Vienna Austria"}],"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":"Vienna Bone and Growth Center Vienna Austria"},{"name":"Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, 1st Medical Department Hanusch Hospital Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Carola","family":"Zillikens","sequence":"additional","affiliation":[{"name":"Bone Center, Department of Internal Medicine Erasmus University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4582-9838","authenticated-orcid":false,"given":"Uwe","family":"Kornak","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7402-314X","authenticated-orcid":false,"given":"Kent","family":"S\u00f8e","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Southern Denmark Odense Denmark"},{"name":"Clinical Cell Biology, Pathology Research Unit, Department of Clinical Research University of Southern Denmark Odense Denmark"},{"name":"Clinical Cell Biology, Department of Pathology Odense University Hospital Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Children's Hospital and Pediatric Research Center University of Helsinki and Helsinki University Hospital Helsinki Finland"},{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki Helsinki Finland"},{"name":"Folkh\u00e4lsan Institute of Genetics Helsinki Finland"},{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,8,10]]},"reference":[{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0001","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1007\/s00223-021-00885-6","article-title":"Early-onset osteoporosis","volume":"110","author":"Makitie","year":"2022","journal-title":"Calcif Tissue Int"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0002","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s001980050281","article-title":"An update on the diagnosis and assessment of osteoporosis with densitometry. Committee of Scientific Advisors, International Osteoporosis Foundation","volume":"11","author":"Kanis","year":"2000","journal-title":"Osteoporos Int"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0003","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1111\/joim.12369","article-title":"Osteoporosis: the evolution of a diagnosis","volume":"277","author":"Lorentzon","year":"2015","journal-title":"J Intern Med"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0004","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/nrrheum.2009.260","article-title":"Osteoporosis: impact on health and economics","volume":"6","author":"Harvey","year":"2010","journal-title":"Nat Rev Rheumatol"},{"issue":"Suppl 1","key":"2024012713575513600_jbmr4668-bib-0005","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1530\/EJE-08-0282","article-title":"Management of osteoporosis in children","volume":"159","author":"Shaw","year":"2008","journal-title":"Eur J Endocrinol"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0006","doi-asserted-by":"crossref","first-page":"e2088","DOI":"10.1210\/clinem\/dgz294","article-title":"A contemporary view of the definition and diagnosis of osteoporosis in children and adolescents","volume":"105","author":"Ward","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0007","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/nrrheum.2013.45","article-title":"Causes, mechanisms and management of paediatric osteoporosis","volume":"9","author":"Makitie","year":"2013","journal-title":"Nat Rev Rheumatol"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0008","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.tem.2016.03.006","article-title":"Osteoporosis and bone mass disorders: from gene pathways to treatments","volume":"27","author":"Rivadeneira","year":"2016","journal-title":"Trends Endocrinol Metab"},{"key":"2024012713575513600_jbmr4668-bib-0009","doi-asserted-by":"crossref","first-page":"421746","DOI":"10.1155\/2015\/421746","article-title":"Biology of bone tissue: structure, function, and factors that influence bone cells","volume":"2015","author":"Florencio-Silva","year":"2015","journal-title":"Biomed Res Int"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0010","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1177\/1759720X16670154","article-title":"Bone modeling and remodeling: potential as therapeutic targets for the treatment of osteoporosis","volume":"8","author":"Langdahl","year":"2016","journal-title":"Ther Adv Musculoskelet Dis"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0011","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/nrendo.2015.89","article-title":"Skeletal changes through the lifespan\u2014from growth to senescence","volume":"11","author":"Farr","year":"2015","journal-title":"Nat Rev Endocrinol"},{"key":"2024012713575513600_jbmr4668-bib-0012","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1196\/annals.1365.035","article-title":"Bone remodeling","volume":"1092","author":"Hadjidakis","year":"2006","journal-title":"Ann N Y Acad Sci"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0013","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1016\/j.bone.2008.08.106","article-title":"International Society for Clinical Densitometry 2007 adult and pediatric official positions","volume":"43","author":"Lewiecki","year":"2008","journal-title":"Bone"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0014","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.jocd.2014.01.004","article-title":"Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 Pediatric Official Positions","volume":"17","author":"Bishop","year":"2014","journal-title":"J Clin Densitom"},{"issue":"12","key":"2024012713575513600_jbmr4668-bib-0015","doi-asserted-by":"crossref","first-page":"2735","DOI":"10.1007\/s00198-012-2030-x","article-title":"Osteoporosis in young adults: pathophysiology, diagnosis, and management","volume":"23","author":"Ferrari","year":"2012","journal-title":"Osteoporos Int"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0016","doi-asserted-by":"crossref","first-page":"dgaa306","DOI":"10.1210\/clinem\/dgaa306","article-title":"Osteoporosis in premenopausal women: a clinical narrative review by the ECTS and the IOF","volume":"105","author":"Pepe","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0017","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s11914-022-00717-y","article-title":"Evaluating patients for secondary causes of osteoporosis","volume":"20","author":"Lewiecki","year":"2022","journal-title":"Curr Osteoporos Rep"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0018","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.ecl.2016.09.007","article-title":"Premenopausal osteoporosis","volume":"46","author":"Cohen","year":"2017","journal-title":"Endocrinol Metab Clin North Am"},{"issue":"10028","key":"2024012713575513600_jbmr4668-bib-0019","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0020","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med Genet"},{"key":"2024012713575513600_jbmr4668-bib-0021","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":"15","key":"2024012713575513600_jbmr4668-bib-0022","doi-asserted-by":"crossref","first-page":"3033","DOI":"10.1111\/febs.14963","article-title":"Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes","volume":"286","author":"Besio","year":"2019","journal-title":"FEBS J"},{"issue":"12","key":"2024012713575513600_jbmr4668-bib-0023","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and classification of genetic skeletal disorders: 2019 revision","volume":"179","author":"Mortier","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0024","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1007\/s11914-021-00680-0","article-title":"The polygenic and monogenic basis of Paediatric fractures","volume":"19","author":"Ghatan","year":"2021","journal-title":"Curr Osteoporos Rep"},{"key":"2024012713575513600_jbmr4668-bib-0025","doi-asserted-by":"crossref","first-page":"70","DOI":"10.3389\/fendo.2019.00070","article-title":"New insights into monogenic causes of osteoporosis","volume":"10","author":"Makitie","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0026","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1210\/endrev\/bnab017","article-title":"Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types","volume":"43","author":"Jovanovic","year":"2022","journal-title":"Endocr Rev"},{"issue":"20","key":"2024012713575513600_jbmr4668-bib-0027","doi-asserted-by":"crossref","first-page":"7666","DOI":"10.1073\/pnas.85.20.7666","article-title":"A missense mutation in the human liver\/bone\/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia","volume":"85","author":"Weiss","year":"1988","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0028","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","article-title":"Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment","volume":"164A","author":"Van Dijk","year":"2014","journal-title":"Am J Med Genet A"},{"issue":"19","key":"2024012713575513600_jbmr4668-bib-0029","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1056\/NEJMoa1215458","article-title":"WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta","volume":"368","author":"Laine","year":"2013","journal-title":"N Engl J Med"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0030","first-page":"535","article-title":"Teriparatide treatment in patients with WNT1 or PLS3 mutation-related early-onset osteoporosis: a pilot study","volume":"102","author":"Valimaki","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"2024012713575513600_jbmr4668-bib-0031","doi-asserted-by":"crossref","first-page":"115900","DOI":"10.1016\/j.bone.2021.115900","article-title":"Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations","volume":"146","author":"Fratzl-Zelman","year":"2021","journal-title":"Bone"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0032","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1007\/s00198-020-05345-9","article-title":"Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment","volume":"31","author":"Bianchi","year":"2020","journal-title":"Osteoporos Int"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0033","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.14","article-title":"Hypophosphatasia\u2014aetiology, nosology, pathogenesis, diagnosis and treatment","volume":"12","author":"Whyte","year":"2016","journal-title":"Nat Rev Endocrinol"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0034","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.bone.2008.11.004","article-title":"Vertebral fractures are associated with increased cortical porosity in iliac crest bone biopsy of men with idiopathic osteoporosis","volume":"44","author":"Ostertag","year":"2009","journal-title":"Bone"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0035","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1097\/01.gim.0000223557.54670.aa","article-title":"Genetic evaluation of suspected osteogenesis imperfecta (OI)","volume":"8","author":"Byers","year":"2006","journal-title":"Genet Med"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0036","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/gim.2014.122","article-title":"Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing","volume":"17","author":"Xue","year":"2015","journal-title":"Genet Med"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0037","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","article-title":"Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia","volume":"78","author":"Shiang","year":"1994","journal-title":"Cell"},{"issue":"9582","key":"2024012713575513600_jbmr4668-bib-0038","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0140-6736(07)61090-3","article-title":"Achondroplasia","volume":"370","author":"Horton","year":"2007","journal-title":"Lancet"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0039","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1172\/JCI25148","article-title":"Caffey disease: an unlikely collagenopathy","volume":"115","author":"Glorieux","year":"2005","journal-title":"J Clin Invest"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0040","first-page":"201","article-title":"Next-generation sequencing to diagnose suspected genetic disorders","volume":"380","author":"Adams","year":"2019","journal-title":"N Engl J Med"},{"issue":"16","key":"2024012713575513600_jbmr4668-bib-0041","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of Mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"2024012713575513600_jbmr4668-bib-0042","doi-asserted-by":"crossref","first-page":"15824","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of Mendelian disorders via RNA sequencing","volume":"8","author":"Kremer","year":"2017","journal-title":"Nat Commun"},{"issue":"7814","key":"2024012713575513600_jbmr4668-bib-0043","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","article-title":"Whole-genome sequencing of patients with rare diseases in a national health system","volume":"583","author":"Turro","year":"2020","journal-title":"Nature"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0044","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.canlet.2012.11.025","article-title":"Next-generation sequencing in the clinic: promises and challenges","volume":"340","author":"Xuan","year":"2013","journal-title":"Cancer Lett"},{"issue":"12","key":"2024012713575513600_jbmr4668-bib-0045","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.1038\/nprot.2015.124","article-title":"Next-generation diagnostics and disease-gene discovery with the Exomiser","volume":"10","author":"Smedley","year":"2015","journal-title":"Nat Protoc"},{"issue":"252","key":"2024012713575513600_jbmr4668-bib-0046","doi-asserted-by":"crossref","first-page":"252ra123","DOI":"10.1126\/scitranslmed.3009262","article-title":"Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome","volume":"6","author":"Zemojtel","year":"2014","journal-title":"Sci Transl Med"},{"issue":"D1","key":"2024012713575513600_jbmr4668-bib-0047","doi-asserted-by":"crossref","first-page":"D1207","DOI":"10.1093\/nar\/gkaa1043","article-title":"The human phenotype ontology in 2021","volume":"49","author":"Kohler","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"2024012713575513600_jbmr4668-bib-0048","doi-asserted-by":"crossref","first-page":"709711","DOI":"10.3389\/fendo.2021.709711","article-title":"A roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disorders","volume":"12","author":"Formosa","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2024012713575513600_jbmr4668-bib-0049","doi-asserted-by":"crossref","first-page":"116253","DOI":"10.1016\/j.bone.2021.116253","article-title":"Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis","volume":"154","author":"Cohen","year":"2022","journal-title":"Bone"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0050","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nm.3074","article-title":"WNT signaling in bone homeostasis and disease: from human mutations to treatments","volume":"19","author":"Baron","year":"2013","journal-title":"Nat Med"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0051","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nrendo.2013.154","article-title":"Wnt signalling in osteoporosis: mechanisms and novel therapeutic approaches","volume":"9","author":"Canalis","year":"2013","journal-title":"Nat Rev Endocrinol"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0052","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1359\/JBMR.040816","article-title":"LRP5 and Wnt signaling: a union made for bone","volume":"19","author":"Johnson","year":"2004","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0053","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0092-8674(01)00571-2","article-title":"LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development","volume":"107","author":"Gong","year":"2001","journal-title":"Cell"},{"issue":"20","key":"2024012713575513600_jbmr4668-bib-0054","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1056\/NEJMoa013444","article-title":"High bone density due to a mutation in LDL-receptor\u2013related protein 5","volume":"346","author":"Boyden","year":"2002","journal-title":"N Engl J Med"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0055","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1359\/JBMR.050101","article-title":"Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children","volume":"20","author":"Hartikka","year":"2005","journal-title":"J Bone Miner Res"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0056","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.ejmg.2012.06.011","article-title":"Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis","volume":"55","author":"Korvala","year":"2012","journal-title":"Eur J Med Genet"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0057","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmedgenet-2013-101567","article-title":"Mutations in WNT1 are a cause of osteogenesis imperfecta","volume":"50","author":"Fahiminiya","year":"2013","journal-title":"J Med Genet"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0058","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ajhg.2013.02.009","article-title":"WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta","volume":"92","author":"Pyott","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0059","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","article-title":"Mutations in WNT1 cause different forms of bone fragility","volume":"92","author":"Keupp","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0060","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/nm.2388","article-title":"Lrp5 functions in bone to regulate bone mass","volume":"17","author":"Cui","year":"2011","journal-title":"Nat Med"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0061","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.cell.2008.09.059","article-title":"Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum","volume":"135","author":"Yadav","year":"2008","journal-title":"Cell"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0062","doi-asserted-by":"crossref","first-page":"e63323","DOI":"10.1371\/journal.pone.0063323","article-title":"Lrp5 and Lrp6 exert overlapping functions in osteoblasts during postnatal bone acquisition","volume":"8","author":"Riddle","year":"2013","journal-title":"PLoS One"},{"issue":"15","key":"2024012713575513600_jbmr4668-bib-0063","doi-asserted-by":"crossref","first-page":"4035","DOI":"10.1093\/hmg\/ddu117","article-title":"The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations","volume":"23","author":"Joeng","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0064","doi-asserted-by":"crossref","first-page":"2678","DOI":"10.1172\/JCI92617","article-title":"Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis","volume":"127","author":"Joeng","year":"2017","journal-title":"J Clin Invest"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0065","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1359\/jbmr.070721","article-title":"Patients with high bone mass phenotype exhibit enhanced osteoblast differentiation and inhibition of adipogenesis of human mesenchymal stem cells","volume":"22","author":"Qiu","year":"2007","journal-title":"J Bone Miner Res"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0066","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1002\/jbmr.2461","article-title":"The anti-osteoanabolic function of sclerostin is blunted in mice carrying a high bone mass mutation of Lrp5","volume":"30","author":"Yorgan","year":"2015","journal-title":"J Bone Miner Res"},{"key":"2024012713575513600_jbmr4668-bib-0067","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1086\/368277","article-title":"Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density","volume":"72","author":"Van Wesenbeeck","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"5573","key":"2024012713575513600_jbmr4668-bib-0068","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1126\/science.1071549","article-title":"The promise and perils of Wnt signaling through b-Catenin","volume":"296","author":"Moon","year":"2002","journal-title":"Science"},{"issue":"20","key":"2024012713575513600_jbmr4668-bib-0069","doi-asserted-by":"crossref","first-page":"19883","DOI":"10.1074\/jbc.M413274200","article-title":"Sclerostin binds to LRP5\/6 and antagonizes canonical Wnt signaling","volume":"280","author":"Li","year":"2005","journal-title":"J Biol Chem"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0070","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1210\/jc.2013-3238","article-title":"Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause","volume":"99","author":"Campos-Obando","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0071","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1016\/j.bone.2009.12.022","article-title":"Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children","volume":"46","author":"Saarinen","year":"2010","journal-title":"Bone"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0072","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1001\/jama.299.11.1277","article-title":"Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis","volume":"299","author":"van Meurs","year":"2008","journal-title":"JAMA"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0073","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1016\/j.bone.2005.06.017","article-title":"LRP5 gene polymorphisms and idiopathic osteoporosis in men","volume":"37","author":"Ferrari","year":"2005","journal-title":"Bone"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0074","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/jbmr.4197","article-title":"Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP)","volume":"36","author":"Sturznickel","year":"2021","journal-title":"J Bone Miner Res"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0075","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1002\/ajmg.a.61119","article-title":"Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta","volume":"179","author":"Nampoothiri","year":"2019","journal-title":"Am J Med Genet A"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0076","doi-asserted-by":"crossref","first-page":"103954","DOI":"10.1016\/j.ejmg.2020.103954","article-title":"Biallelic variants in four genes underlying recessive osteogenesis imperfecta","volume":"63","author":"Hayat","year":"2020","journal-title":"Eur J Med Genet"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0077","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1186\/s12929-018-0481-x","article-title":"Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited osteogenesis imperfecta","volume":"25","author":"Kausar","year":"2018","journal-title":"J Biomed Sci"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0078","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/pr.2017.149","article-title":"Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3","volume":"82","author":"Umair","year":"2017","journal-title":"Pediatr Res"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0079","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1002\/ajmg.a.40347","article-title":"Heterozygous WNT1 variant causing a variable bone phenotype","volume":"176","author":"Alhamdi","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"466","key":"2024012713575513600_jbmr4668-bib-0080","doi-asserted-by":"crossref","first-page":"eaau7137","DOI":"10.1126\/scitranslmed.aau7137","article-title":"Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand","volume":"10","author":"Luther","year":"2018","journal-title":"Sci Transl Med"},{"key":"2024012713575513600_jbmr4668-bib-0081","doi-asserted-by":"crossref","first-page":"115754","DOI":"10.1016\/j.bone.2020.115754","article-title":"Osteoblastic Wnt1 regulates periosteal bone formation in adult mice","volume":"143","author":"Wang","year":"2021","journal-title":"Bone"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0082","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1002\/jbmr.2841","article-title":"Skeletal characteristics of WNT1 osteoporosis in children and young adults","volume":"31","author":"Makitie","year":"2016","journal-title":"J Bone Miner Res"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0083","doi-asserted-by":"crossref","first-page":"2340","DOI":"10.1210\/jc.2017-00099","article-title":"Osteocyte protein expression is altered in low-turnover osteoporosis caused by mutations in WNT1 and PLS3","volume":"102","author":"Wesseling-Perry","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0084","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1002\/jbmr.3959","article-title":"Biomarkers in WNT1 and PLS3 osteoporosis: altered concentrations of DKK1 and FGF23","volume":"35","author":"Makitie","year":"2020","journal-title":"J Bone Miner Res"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0085","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1210\/jc.2017-02585","article-title":"Altered microRNA profile in osteoporosis caused by impaired WNT signaling","volume":"103","author":"Makitie","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"16","key":"2024012713575513600_jbmr4668-bib-0086","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1056\/NEJMoa1308223","article-title":"PLS3 mutations in X-linked osteoporosis with fractures","volume":"369","author":"Van Dijk","year":"2013","journal-title":"N Engl J Med"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0087","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1002\/jbmr.2208","article-title":"Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics","volume":"29","author":"Fahiminiya","year":"2014","journal-title":"J Bone Miner Res"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0088","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1159\/000439566","article-title":"New genetic forms of childhood-onset primary osteoporosis","volume":"84","author":"Kampe","year":"2015","journal-title":"Horm Res Paediatr"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0089","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/jbmr.2355","article-title":"A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis","volume":"30","author":"Laine","year":"2015","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0090","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1007\/s11914-017-0388-6","article-title":"Recent discoveries in monogenic disorders of childhood bone fragility","volume":"15","author":"Makitie","year":"2017","journal-title":"Curr Osteoporos Rep"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0091","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/s10038-018-0472-5","article-title":"A novel frameshift deletion in PLS3 causing severe primary osteoporosis","volume":"63","author":"Costantini","year":"2018","journal-title":"J Hum Genet"},{"issue":"3-4","key":"2024012713575513600_jbmr4668-bib-0092","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1159\/000477242","article-title":"PLS3 mutations in X-linked osteoporosis: clinical and bone characteristics of two novel mutations","volume":"88","author":"Kannu","year":"2017","journal-title":"Horm Res Paediatr"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0093","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1007\/s00198-017-4150-9","article-title":"PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants","volume":"28","author":"Kampe","year":"2017","journal-title":"Osteoporos Int"},{"issue":"12","key":"2024012713575513600_jbmr4668-bib-0094","doi-asserted-by":"crossref","first-page":"2394","DOI":"10.1002\/jbmr.3233","article-title":"PLS3 deletions lead to severe spinal osteoporosis and disturbed bone matrix mineralization","volume":"32","author":"Kampe","year":"2017","journal-title":"J Bone Miner Res"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0095","doi-asserted-by":"crossref","first-page":"2889","DOI":"10.1002\/ajmg.a.37826","article-title":"Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features","volume":"170","author":"Nishi","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"12","key":"2024012713575513600_jbmr4668-bib-0096","doi-asserted-by":"crossref","first-page":"e1525","DOI":"10.1002\/mgg3.1525","article-title":"A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta","volume":"8","author":"Hu","year":"2020","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0097","doi-asserted-by":"crossref","first-page":"230","DOI":"10.4158\/EP-2018-0443","article-title":"Novel mutations in the Wnt1, Tmem38b, P4hb, and Pls3 genes in four unrelated Chinese families with osteogenesis imperfecta","volume":"25","author":"Cao","year":"2019","journal-title":"Endocr Pract"},{"key":"2024012713575513600_jbmr4668-bib-0098","doi-asserted-by":"crossref","first-page":"8953217","DOI":"10.1155\/2018\/8953217","article-title":"Clinical, genetics, and bioinformatic characterization of mutations affecting an essential region of PLS3 in patients with BMND18","volume":"2018","author":"Chen","year":"2018","journal-title":"Int J Endocrinol"},{"issue":"13","key":"2024012713575513600_jbmr4668-bib-0099","doi-asserted-by":"crossref","first-page":"5275","DOI":"10.1007\/s00018-021-03843-5","article-title":"Plastin 3 in health and disease: a matter of balance","volume":"78","author":"Wolff","year":"2021","journal-title":"Cell Mol Life Sci"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0100","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1007\/s00198-017-4094-0","article-title":"A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid","volume":"28","author":"Lv","year":"2017","journal-title":"Osteoporos Int"},{"key":"2024012713575513600_jbmr4668-bib-0101","doi-asserted-by":"crossref","first-page":"380","DOI":"10.3389\/fendo.2018.00380","article-title":"Rare copy number variants in array-based comparative genomic hybridization in early-onset skeletal fragility","volume":"9","author":"Costantini","year":"2018","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0102","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1038\/s41401-019-0219-7","article-title":"Genetic variants in the PLS3 gene are associated with osteoporotic fractures in postmenopausal Chinese women","volume":"40","author":"Shao","year":"2019","journal-title":"Acta Pharmacol Sin"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0103","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/ajmg.a.37431","article-title":"Copy number variants in association with type 1 collagenopathy: atypical osteogenesis imperfecta","volume":"170A","author":"Balasubramanian","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0104","doi-asserted-by":"crossref","first-page":"1962","DOI":"10.1002\/jbmr.4097","article-title":"Unique, gender-dependent serum microRNA profile in PLS3 gene-related osteoporosis","volume":"35","author":"Makitie","year":"2020","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0105","doi-asserted-by":"crossref","first-page":"2781","DOI":"10.1016\/S0021-9258(18)53842-4","article-title":"Human plastin genes. Comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells","volume":"268","author":"Lin","year":"1993","journal-title":"J Biol Chem"},{"issue":"6220","key":"2024012713575513600_jbmr4668-bib-0106","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"Uhlen","year":"2015","journal-title":"Science"},{"key":"2024012713575513600_jbmr4668-bib-0107","doi-asserted-by":"crossref","first-page":"635783","DOI":"10.3389\/fcell.2020.635783","article-title":"Plastin 3 in X-linked osteoporosis: imbalance of ca(2+)-dependent regulation is equivalent to protein loss","volume":"8","author":"Schwebach","year":"2020","journal-title":"Front Cell Dev Biol"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0108","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.3390\/cancers11111663","article-title":"The actin binding protein Plastin-3 is involved in the pathogenesis of acute myeloid leukemia","volume":"11","author":"Velthaus","year":"2019","journal-title":"Cancers (Basel)"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0109","doi-asserted-by":"crossref","first-page":"2183","DOI":"10.1007\/s13277-013-0754-7","article-title":"A common gene variant in PLS3 predicts colon cancer recurrence in women","volume":"34","author":"Szkandera","year":"2013","journal-title":"Tumour Biol"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0110","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1158\/1535-7163.MCT-13-0646","article-title":"Plastin polymorphisms predict gender- and stage-specific colon cancer recurrence after adjuvant chemotherapy","volume":"13","author":"Ning","year":"2014","journal-title":"Mol Cancer Ther"},{"issue":"5875","key":"2024012713575513600_jbmr4668-bib-0111","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0112","doi-asserted-by":"crossref","first-page":"2432","DOI":"10.3390\/cells10092432","article-title":"L-plastin phosphorylation: possible regulation by a TNFR1 signaling cascade in osteoclasts","volume":"10","author":"Chellaiah","year":"2021","journal-title":"Cells"},{"issue":"39","key":"2024012713575513600_jbmr4668-bib-0113","doi-asserted-by":"crossref","first-page":"29911","DOI":"10.1074\/jbc.M109.099697","article-title":"Regulation of sealing ring formation by L-plastin and cortactin in osteoclasts","volume":"285","author":"Ma","year":"2010","journal-title":"J Biol Chem"},{"issue":"24","key":"2024012713575513600_jbmr4668-bib-0114","first-page":"4249","article-title":"Plastin 3 influences bone homeostasis through regulation of osteoclast activity","volume":"27","author":"Neugebauer","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2024012713575513600_jbmr4668-bib-0115","doi-asserted-by":"crossref","first-page":"115062","DOI":"10.1016\/j.bone.2019.115062","article-title":"Mice lacking plastin-3 display a specific defect of cortical bone acquisition","volume":"130","author":"Yorgan","year":"2020","journal-title":"Bone"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0116","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1359\/jbmr.1998.13.10.1555","article-title":"Osteocyte shape is dependent on actin filaments and osteocyte processes are unique actin-rich projections","volume":"13","author":"Tanaka-Kamioka","year":"1998","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0117","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nrm2594","article-title":"Mechanotransduction at a distance: mechanically coupling the extracellular matrix with the nucleus","volume":"10","author":"Wang","year":"2009","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0118","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0092-8674(79)90368-4","article-title":"A 130K protein from chicken gizzard: its localization at the termini of microfilament bundles in cultured chicken cells","volume":"18","author":"Geiger","year":"1979","journal-title":"Cell"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0119","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.jprot.2011.04.005","article-title":"Proteomic characterization of biogenesis and functions of matrix vesicles released from mineralizing human osteoblast-like cells","volume":"74","author":"Thouverey","year":"2011","journal-title":"J Proteomics"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0120","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1385\/JCD:2:1:45","article-title":"Calvarial doughnut lesions associated with high-turnover osteoporosis presenting in childhood","volume":"2","author":"Stock","year":"1999","journal-title":"J Clin Densitom"},{"issue":"20","key":"2024012713575513600_jbmr4668-bib-0121","doi-asserted-by":"crossref","first-page":"4205","DOI":"10.1128\/MCB.05893-11","article-title":"Reducing plasma membrane sphingomyelin increases insulin sensitivity","volume":"31","author":"Li","year":"2011","journal-title":"Mol Cell Biol"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0122","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.bbalip.2013.12.003","article-title":"The role of sphingomyelin and sphingomyelin synthases in cell death, proliferation and migration-from cell and animal models to human disorders","volume":"1841","author":"Taniguchi","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0123","doi-asserted-by":"crossref","first-page":"e126180","DOI":"10.1172\/jci.insight.126180","article-title":"Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2","volume":"4","author":"Pekkinen","year":"2019","journal-title":"JCI Insight"},{"key":"2024012713575513600_jbmr4668-bib-0124","doi-asserted-by":"crossref","first-page":"115261","DOI":"10.1016\/j.bone.2020.115261","article-title":"Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2","volume":"134","author":"Robinson","year":"2020","journal-title":"Bone"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0125","doi-asserted-by":"crossref","first-page":"e10537","DOI":"10.1002\/jbm4.10537","article-title":"Abnormal bone tissue organization and osteocyte Lacunocanalicular network in early-onset osteoporosis due to SGMS2 mutations","volume":"5","author":"Makitie","year":"2021","journal-title":"JBMR Plus"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0126","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1038\/sj.bjc.6605334","article-title":"Imaging metastatic bone disease from carcinoma of the prostate","volume":"101","author":"Messiou","year":"2009","journal-title":"Br J Cancer"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0127","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1080\/028418500127345019","article-title":"Evaluation of new sclerotic bone metastases in breast cancer patients during treatment","volume":"41","author":"Ciray","year":"2000","journal-title":"Acta Radiol"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0128","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1038\/nrendo.2010.227","article-title":"Bone metastasis: mechanisms and therapeutic opportunities","volume":"7","author":"Suva","year":"2011","journal-title":"Nat Rev Endocrinol"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0129","doi-asserted-by":"crossref","first-page":"L430","DOI":"10.1152\/ajplung.00208.2010","article-title":"Sphingomyelin synthase 2 (SMS2) deficiency attenuates LPS-induced lung injury","volume":"300","author":"Gowda","year":"2011","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0130","doi-asserted-by":"crossref","first-page":"3816","DOI":"10.1096\/fj.201601225RR","article-title":"Sphingomyelin synthase 2 deficiency inhibits the induction of murine colitis-associated colon cancer","volume":"31","author":"Ohnishi","year":"2017","journal-title":"FASEB J"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0131","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.bbrc.2016.11.041","article-title":"Possible roles of long-chain sphingomyelines and sphingomyelin synthase 2 in mouse macrophage inflammatory response","volume":"482","author":"Sakamoto","year":"2017","journal-title":"Biochem Biophys Res Commun"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0132","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1182\/blood-2009-11-255026","article-title":"Cross talk between the bone and immune systems: osteoclasts function as antigen-presenting cells and activate CD4+ and CD8+ T cells","volume":"116","author":"Li","year":"2010","journal-title":"Blood"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0133","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1165\/rcmb.2010-0458OC","article-title":"Role of sphingomyelin synthesis in pulmonary endothelial cell cytoskeletal activation and endotoxin-induced lung injury","volume":"47","author":"Anjum","year":"2012","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"24","key":"2024012713575513600_jbmr4668-bib-0134","doi-asserted-by":"crossref","first-page":"dev192948","DOI":"10.1242\/dev.192948","article-title":"A developmental stage-specific network approach for studying dynamic co-regulation of transcription factors and microRNAs during craniofacial development","volume":"147","author":"Yan","year":"2020","journal-title":"Development"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0135","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/s10020-019-0123-0","article-title":"Deficiency of sphingomyelin synthase 1 but not sphingomyelin synthase 2 reduces bone formation due to impaired osteoblast differentiation","volume":"25","author":"Matsumoto","year":"2019","journal-title":"Mol Med"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0136","doi-asserted-by":"crossref","first-page":"189","DOI":"10.2220\/biomedres.40.189","article-title":"Knockdown of sphingomyelin synthase 2 inhibits osteoclastogenesis by decreasing RANKL expression in mouse primary osteoblasts","volume":"40","author":"Yoshikawa","year":"2019","journal-title":"Biomed Res"},{"key":"2024012713575513600_jbmr4668-bib-0137","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.bone.2017.04.001","article-title":"Impaired WNT signaling and the spine-heterozygous WNT1 mutation causes severe age-related spinal pathology","volume":"101","author":"Makitie","year":"2017","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0138","doi-asserted-by":"crossref","first-page":"393","DOI":"10.3389\/fendo.2020.00393","article-title":"PLS3 mutations cause severe age and sex-related spinal pathology","volume":"11","author":"Makitie","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0139","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1136\/jmedgenet-2013-101750","article-title":"WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype","volume":"50","author":"Faqeih","year":"2013","journal-title":"J Med Genet"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0140","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00223-015-9978-4","article-title":"Fragility of bone material controlled by internal interfaces","volume":"97","author":"Wagermaier","year":"2015","journal-title":"Calcif Tissue Int"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0141","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S8756-3282(99)00257-4","article-title":"Normative data for iliac bone histomorphometry in growing children","volume":"26","author":"Glorieux","year":"2000","journal-title":"Bone"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0142","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1007\/s00467-006-0025-6","article-title":"Watching bone cells at work: what we can see from bone biopsies","volume":"21","author":"Rauch","year":"2006","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0143","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.bone.2007.10.021","article-title":"Bone mineralization density distribution in health and disease","volume":"42","author":"Roschger","year":"2008","journal-title":"Bone"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0144","doi-asserted-by":"crossref","first-page":"1884","DOI":"10.1002\/jbmr.3180","article-title":"Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type V bone indicate exuberant primary bone formation","volume":"32","author":"Blouin","year":"2017","journal-title":"J Bone Miner Res"},{"issue":"9","key":"2024012713575513600_jbmr4668-bib-0145","doi-asserted-by":"crossref","first-page":"4508","DOI":"10.3390\/ijms22094508","article-title":"Increased osteocyte lacunae density in the Hypermineralized bone matrix of children with osteogenesis imperfecta type I","volume":"22","author":"Mahr","year":"2021","journal-title":"Int J Mol Sci"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0146","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/S8756-3282(97)00015-X","article-title":"Determining mineral content variations in bone using backscattered electron imaging","volume":"20","author":"Bloebaum","year":"1997","journal-title":"Bone"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0147","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/8756-3282(93)90142-W","article-title":"Stereology and histogram analysis of backscattered electron images: age changes in bone","volume":"14","author":"Boyde","year":"1993","journal-title":"Bone"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0148","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1007\/s00223-001-2048-0","article-title":"The degree of mineralization of bone tissue measured by computerized quantitative contact microradiography","volume":"70","author":"Boivin","year":"2002","journal-title":"Calcif Tissue Int"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0149","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/S8756-3282(98)00112-4","article-title":"Validation of quantitative backscattered electron imaging for the measurement of mineral density distribution in human bone biopsies","volume":"23","author":"Roschger","year":"1998","journal-title":"Bone"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0150","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/s00223-021-00832-5","article-title":"Quantitative backscattered electron imaging of bone using a thermionic or a field emission electron source","volume":"109","author":"Hartmann","year":"2021","journal-title":"Calcif Tissue Int"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0151","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1210\/jc.2003-031055","article-title":"Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis","volume":"89","author":"Fratzl-Zelman","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"2024012713575513600_jbmr4668-bib-0152","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.bone.2013.11.023","article-title":"Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations","volume":"60","author":"Fratzl-Zelman","year":"2014","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0153","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.bone.2014.12.023","article-title":"Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone","volume":"73","author":"Fratzl-Zelman","year":"2015","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0154","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/B978-0-12-416617-2.00018-7","article-title":"Imaging the nanostructure of bone and dentin through small- and wide-angle X-ray scattering","volume":"532","author":"Pabisch","year":"2013","journal-title":"Methods Enzymol"},{"key":"2024012713575513600_jbmr4668-bib-0155","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1002\/9783527628155.nanotech060","article-title":"Bone nanostructure and its relevance for mechanical performance","volume":"2","author":"Fratzl","year":"2010","journal-title":"Dis Treat Nanotechnol"},{"issue":"8","key":"2024012713575513600_jbmr4668-bib-0156","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1007\/s00198-017-4019-y","article-title":"Vibrational spectroscopic techniques to assess bone quality","volume":"28","author":"Paschalis","year":"2017","journal-title":"Osteoporos Int"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0157","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1002\/jbmr.2780","article-title":"Evidence for a role for Nanoporosity and Pyridinoline content in human mild osteogenesis imperfecta","volume":"31","author":"Paschalis","year":"2016","journal-title":"J Bone Miner Res"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0158","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bone.2006.02.071","article-title":"Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta","volume":"39","author":"Weber","year":"2006","journal-title":"Bone"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0159","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/S8756-3282(00)00269-6","article-title":"Static and dynamic bone histomorphometry in children with osteogenesis imperfecta","volume":"26","author":"Rauch","year":"2000","journal-title":"Bone"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0160","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s00223-008-9113-x","article-title":"Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations","volume":"82","author":"Roschger","year":"2008","journal-title":"Calcif Tissue Int"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0161","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.bone.2009.02.021","article-title":"Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults","volume":"44","author":"Fratzl-Zelman","year":"2009","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0162","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.bone.2014.09.012","article-title":"Pediatric reference Raman data for material characteristics of iliac trabecular bone","volume":"69","author":"Gamsjaeger","year":"2014","journal-title":"Bone"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0163","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1136\/jcp.47.6.529","article-title":"Age related histomorphometric changes in bone in normal British men and women","volume":"47","author":"Rehman","year":"1994","journal-title":"J Clin Pathol"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0164","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/PL00005824","article-title":"Scanning small angle X-ray scattering analysis of human bone sections","volume":"64","author":"Rinnerthaler","year":"1999","journal-title":"Calcif Tissue Int"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0165","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1007\/s00223-018-0447-8","article-title":"Comparison of bone microarchitecture between adult osteogenesis imperfecta and early-onset osteoporosis","volume":"103","author":"Rolvien","year":"2018","journal-title":"Calcif Tissue Int"},{"key":"2024012713575513600_jbmr4668-bib-0166","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.bone.2014.06.041","article-title":"Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations","volume":"67","author":"Palomo","year":"2014","journal-title":"Bone"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0167","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1007\/s00198-009-0861-x","article-title":"Influence of remodeling on the mineralization of bone tissue","volume":"20","author":"Boivin","year":"2009","journal-title":"Osteoporos Int"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0168","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.bone.2007.01.012","article-title":"The bone mineralization density distribution as a fingerprint of the mineralization process","volume":"40","author":"Ruffoni","year":"2007","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0169","doi-asserted-by":"crossref","first-page":"115324","DOI":"10.1016\/j.bone.2020.115324","article-title":"Large osteocyte lacunae in iliac crest infantile bone are not associated with impaired mineral distribution or signs of osteocytic osteolysis","volume":"135","author":"Jandl","year":"2020","journal-title":"Bone"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0170","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/S8756-3282(02)00973-0","article-title":"Constant mineralization density distribution in cancellous human bone","volume":"32","author":"Roschger","year":"2003","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0171","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.bone.2014.05.010","article-title":"Trends in trabecular architecture and bone mineral density distribution in 152 individuals aged 30-90\u2009years","volume":"66","author":"Koehne","year":"2014","journal-title":"Bone"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0172","doi-asserted-by":"crossref","first-page":"2430","DOI":"10.7150\/ijbs.61012","article-title":"Osteocytes but not osteoblasts directly build mineralized bone structures","volume":"17","author":"Wang","year":"2021","journal-title":"Int J Biol Sci"},{"issue":"12","key":"2024012713575513600_jbmr4668-bib-0173","doi-asserted-by":"crossref","first-page":"e2100113","DOI":"10.1002\/adhm.202100113","article-title":"3D interrelationship between osteocyte network and forming mineral during human bone remodeling","volume":"10","author":"Ayoubi","year":"2021","journal-title":"Adv Healthc Mater"},{"key":"2024012713575513600_jbmr4668-bib-0174","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1146\/annurev-physiol-021119-034332","article-title":"The osteocyte: new insights","volume":"82","author":"Robling","year":"2020","journal-title":"Annu Rev Physiol"},{"key":"2024012713575513600_jbmr4668-bib-0175","doi-asserted-by":"crossref","first-page":"144","DOI":"10.2106\/00004623-196042010-00012","article-title":"Micropetrosis","volume":"42-A","author":"Frost","year":"1960","journal-title":"J Bone Joint Surg Am"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0176","doi-asserted-by":"crossref","first-page":"R70","DOI":"10.1530\/EC-19-0531","article-title":"Phenomenon of osteocyte lacunar mineralization: indicator of former osteocyte death and a novel marker of impaired bone quality?","volume":"9","author":"Milovanovic","year":"2020","journal-title":"Endocr Connect"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0177","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1007\/s002239900571","article-title":"The microscopic structure of bone in normal children and patients with osteogenesis imperfecta: a survey using backscattered electron imaging","volume":"64","author":"Jones","year":"1999","journal-title":"Calcif Tissue Int"},{"key":"2024012713575513600_jbmr4668-bib-0178","doi-asserted-by":"crossref","first-page":"116094","DOI":"10.1016\/j.bone.2021.116094","article-title":"Large-scale quantification of human osteocyte lacunar morphological biomarkers as assessed by ultra-high-resolution desktop micro-computed tomography","volume":"152","author":"Goff","year":"2021","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0179","doi-asserted-by":"crossref","first-page":"115102","DOI":"10.1016\/j.bone.2019.115102","article-title":"Damage tolerance of lamellar bone","volume":"130","author":"Razi","year":"2020","journal-title":"Bone"},{"key":"2024012713575513600_jbmr4668-bib-0180","doi-asserted-by":"crossref","first-page":"100734","DOI":"10.1016\/j.bonr.2020.100734","article-title":"Histopathology of osteogenesis imperfecta bone. Supramolecular assessment of cells and matrices in the context of woven and lamellar bone formation using light, polarization and ultrastructural microscopy","volume":"14","author":"Shapiro","year":"2021","journal-title":"Bone Rep"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0181","doi-asserted-by":"crossref","first-page":"e1528","DOI":"10.1210\/clinem\/dgab850","article-title":"Denosumab after Teriparatide in premenopausal women with idiopathic osteoporosis","volume":"107","author":"Shane","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"issue":"10","key":"2024012713575513600_jbmr4668-bib-0182","doi-asserted-by":"crossref","first-page":"e3540","DOI":"10.1210\/clinem\/dgaa489","article-title":"Effect of teriparatide on bone remodeling and density in premenopausal idiopathic osteoporosis: a phase II trial","volume":"105","author":"Cohen","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0183","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1017\/S0007114510000437","article-title":"Effect of vitamin D, calcium and multiple micronutrient supplementation on vitamin D and bone status in Bangladeshi premenopausal garment factory workers with hypovitaminosis D: a double-blinded, randomised, placebo-controlled 1-year intervention","volume":"104","author":"Islam","year":"2010","journal-title":"Br J Nutr"},{"issue":"6","key":"2024012713575513600_jbmr4668-bib-0184","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1007\/s10067-006-0405-0","article-title":"Bone mineral density evolution in young premenopausal women with idiopathic osteoporosis","volume":"26","author":"Peris","year":"2007","journal-title":"Clin Rheumatol"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0185","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s11914-014-0248-6","article-title":"Lifestyle and osteoporosis","volume":"13","author":"Zhu","year":"2015","journal-title":"Curr Osteoporos Rep"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0186","doi-asserted-by":"crossref","first-page":"1936","DOI":"10.1359\/JBMR.050709","article-title":"Association of amount of physical activity with cortical bone size and trabecular volumetric BMD in young adult men: the GOOD study","volume":"20","author":"Lorentzon","year":"2005","journal-title":"J Bone Miner Res"},{"issue":"11","key":"2024012713575513600_jbmr4668-bib-0187","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1093\/aje\/kwm210","article-title":"Association between plasma 25-hydroxyvitamin D levels and fracture risk: the EPIC-Oxford study","volume":"166","author":"Roddam","year":"2007","journal-title":"Am J Epidemiol"},{"key":"2024012713575513600_jbmr4668-bib-0188","doi-asserted-by":"crossref","first-page":"924","DOI":"10.3389\/fendo.2019.00924","article-title":"Management of osteogenesis imperfecta","volume":"10","author":"Ralston","year":"2019","journal-title":"Front Endocrinol (Lausanne)"},{"key":"2024012713575513600_jbmr4668-bib-0189","first-page":"CD005088","article-title":"Bisphosphonate therapy for osteogenesis imperfecta","volume":"10","author":"Dwan","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"issue":"3","key":"2024012713575513600_jbmr4668-bib-0190","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1111\/apa.14154","article-title":"Systematic review of the effect of denosumab on children with osteogenesis imperfecta showed inconsistent findings","volume":"107","author":"Li","year":"2018","journal-title":"Acta Paediatr"},{"issue":"2","key":"2024012713575513600_jbmr4668-bib-0191","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1172\/JCI71101","article-title":"Evaluation of teriparatide treatment in adults with osteogenesis imperfecta","volume":"124","author":"Orwoll","year":"2014","journal-title":"J Clin Invest"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0192","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1007\/s00223-013-9770-2","article-title":"Teriparatide treatment in adult patients with osteogenesis imperfecta type I","volume":"93","author":"Gatti","year":"2013","journal-title":"Calcif Tissue Int"},{"key":"2024012713575513600_jbmr4668-bib-0193","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1016\/j.bone.2014.06.015","article-title":"Effect of sclerostin antibody treatment in a mouse model of severe osteogenesis imperfecta","volume":"66","author":"Roschger","year":"2014","journal-title":"Bone"},{"issue":"5","key":"2024012713575513600_jbmr4668-bib-0194","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1002\/jbmr.2776","article-title":"Sclerostin antibody treatment improves the bone phenotype of Crtap(\u2212\/\u2212) mice, a model of recessive osteogenesis imperfecta","volume":"31","author":"Grafe","year":"2016","journal-title":"J Bone Miner Res"},{"issue":"7","key":"2024012713575513600_jbmr4668-bib-0195","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1002\/ajmg.a.38830","article-title":"Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties","volume":"176","author":"Balasubramanian","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"4","key":"2024012713575513600_jbmr4668-bib-0196","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1359\/jbmr.060108","article-title":"Cellular activity on the seven surfaces of iliac bone: a histomorphometric study in children and adolescents","volume":"21","author":"Rauch","year":"2006","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2024012713575513600_jbmr4668-bib-0197","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.bone.2013.07.020","article-title":"Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density","volume":"57","author":"Fahiminiya","year":"2013","journal-title":"Bone"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jbmr.4668","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jbmr.4668","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/37\/9\/1623\/55458238\/jbmr4668.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/37\/9\/1623\/55458238\/jbmr4668.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T10:45:49Z","timestamp":1710326749000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/37\/9\/1623-1641\/7499932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,1]]},"references-count":197,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,8,10]]},"published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.4668","relation":{"has-review":[{"id-type":"doi","id":"10.1002\/JBMR.4668\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v3\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v3\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4668\/v2\/review1","asserted-by":"object"}]},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,12,1]]},"published":{"date-parts":[[2020,12,1]]},"assertion":[{"value":"2022-01-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}