{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T07:26:29Z","timestamp":1766647589204,"version":"build-2065373602"},"reference-count":72,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T00:00:00Z","timestamp":1718323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Osteogenesis Imperfecta (OI) is a genetic disorder caused by mutations in genes responsible for collagen synthesis or polypeptides involved in the formation of collagen fibers. Its predominant skeletal complication is scoliosis, impacting 25 to 80% of OI patients. Vertebral deformities of the scoliotic curves in OI include a variety of malformations such as codfish, wedged-shaped vertebrae or platyspondyly, craniocervical junction abnormalities, and lumbosacral spondylolysis and spondylolisthesis. Although the precise pathophysiology of these spinal deformities remains unclear, anomalies in bone metabolism have been implicated in the progression of scoliotic curves. Bone Mineral Density (BMD) measurements have demonstrated a significant reduction in the Z-score, indicating osteoporosis and a correlation with the advancement of scoliosis. Factors such as increased mechanical strains, joint hypermobility, lower leg length discrepancy, pelvic obliquity, spinal ligament hypermobility, or vertebrae microfractures may also contribute to the severity of scoliosis. Histological vertebral analysis has confirmed that changes in trabecular microarchitecture, associated with inadequate bone turnover, indicate generalized bone metabolic defects in OI. At the molecular level, the upregulation of Transforming Growth factor-\u03b2 (TGF\u03b2) signaling in OI can lead to disturbed bone turnover and changes in muscle mass and strength. Understanding the relationship between spinal clinical features and molecular pathways could unveil TGF\u03b2 -related molecular targets, paving the way for novel therapeutic approaches in OI.<\/jats:p>","DOI":"10.3390\/jcm13123484","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T08:02:26Z","timestamp":1718352146000},"page":"3484","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Unraveling the Link of Altered TGF\u03b2 Signaling with Scoliotic Vertebral Malformations in Osteogenesis Imperfecta: A Comprehensive Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3265-5522","authenticated-orcid":false,"given":"Angelos","family":"Kaspiris","sequence":"first","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"},{"name":"Laboratory of Molecular Pharmacology, Group for Orthopaedic Research, School of Health Sciences, University of Patras, 26504 Patras, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2428-5250","authenticated-orcid":false,"given":"Elias S.","family":"Vasiliadis","sequence":"additional","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Tsalimas","sequence":"additional","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitra","family":"Melissaridou","sequence":"additional","affiliation":[{"name":"First Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cATTIKON\u201d University Hospital, Rimini 1, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4014-889X","authenticated-orcid":false,"given":"Ioanna","family":"Lianou","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, \u201cRion\u201d University Hospital and Medical School, School of Health Sciences, University of Patras, 26504 Patras, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fotios","family":"Panagopoulos","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, \u201cRion\u201d University Hospital and Medical School, School of Health Sciences, University of Patras, 26504 Patras, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0229-0008","authenticated-orcid":false,"given":"Galateia","family":"Katzouraki","sequence":"additional","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2147-5844","authenticated-orcid":false,"given":"Michail","family":"Vavourakis","sequence":"additional","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioannis","family":"Kolovos","sequence":"additional","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0733-6565","authenticated-orcid":false,"given":"Olga D.","family":"Savvidou","sequence":"additional","affiliation":[{"name":"First Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cATTIKON\u201d University Hospital, Rimini 1, 12462 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6429-4325","authenticated-orcid":false,"given":"Evangelia","family":"Papadimitriou","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Pharmacology, Group for Orthopaedic Research, School of Health Sciences, University of Patras, 26504 Patras, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spiros G.","family":"Pneumaticos","sequence":"additional","affiliation":[{"name":"Third Department of Orthopaedic Surgery, School of Medicine, National and Kapodistrian University of Athens, \u201cKAT\u201d General Hospital, Nikis 2, 14561 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Arponen, H., M\u00e4kitie, O., and Waltimo-Sir\u00e9n, J. (2014). Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: A retrospective cross-sectional study. BMC Musculoskelet. Disord., 15.","DOI":"10.1186\/1471-2474-15-428"},{"key":"ref_2","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."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.1016\/j.gim.2022.05.008","article-title":"Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1\/COL1A2","volume":"24","author":"Robinson","year":"2022","journal-title":"Genet Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"666","DOI":"10.21037\/jss.2017.10.01","article-title":"The genetic implication of scoliosis in osteogenesis imperfecta: A review","volume":"3","author":"Liu","year":"2017","journal-title":"J. Spine Surg."},{"key":"ref_5","first-page":"113","article-title":"Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity","volume":"15","author":"Sillence","year":"1979","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Tyurin, A., Merkuryeva, E., Zaripova, A., Markova, T., Nagornova, T., Dantsev, I., Nadyrshina, D., Zakharova, E., and Khusainova, R. (2022). Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review. Biomedicines, 10.","DOI":"10.3390\/biomedicines10102363"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1007\/s00198-022-06581-x","article-title":"Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: New perspectives in an old issue","volume":"34","author":"Tan","year":"2023","journal-title":"Osteoporos. Int."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1002\/humu.20799","article-title":"CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta","volume":"29","author":"Baldridge","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_9","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."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.jped.2014.05.003","article-title":"What is new in genetics and osteogenesis imperfecta classification?","volume":"90","author":"Valadares","year":"2014","journal-title":"J. Pediatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"925","DOI":"10.2106\/00004623-197860070-00009","article-title":"The spine in osteogenesis imperfecta","volume":"60","author":"Benson","year":"1978","journal-title":"J. Bone Joint Surg. Am."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"113","DOI":"10.2106\/00004623-198062010-00017","article-title":"Aftermath of osteogenesis imperfecta: The disease in adulthood","volume":"62","author":"Moorefield","year":"1980","journal-title":"J. Bone Joint Surg. Am."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.2106\/00004623-197153070-00020","article-title":"Studies of patients with osteogenesis imperfecta","volume":"53","author":"Albright","year":"1971","journal-title":"J. Bone Joint Surg. Am."},{"key":"ref_14","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":"Roughley","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1136\/jmedgenet-2012-101307","article-title":"Osteogenesis imperfecta type V: Marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients","volume":"50","author":"Rauch","year":"2013","journal-title":"J. Med. Genet."},{"key":"ref_16","first-page":"1252","article-title":"Scoliosis in patients with osteogenesis imperfecta: A federal nation-wide cross-sectional study","volume":"123","author":"Karbowski","year":"1998","journal-title":"Zentralbl Chir."},{"key":"ref_17","first-page":"1470","article-title":"Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment","volume":"164A","author":"Sillence","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1186\/s13023-023-02906-z","article-title":"Scoliosis in osteogenesis imperfecta: Identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients","volume":"18","author":"Chen","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1097\/00003086-199001000-00036","article-title":"Role of transforming growth factor-beta in bone remodeling","volume":"250","author":"Bonewald","year":"1990","journal-title":"Clin. Orthop. Relat. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0303-7207(01)00496-8","article-title":"Involvement of activin in the regulation of bone metabolism","volume":"180","author":"Sakai","year":"2001","journal-title":"Mol. Cell Endocrinol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e152571","DOI":"10.1172\/JCI152571","article-title":"Targeting TGF-\u03b2 for treatment of osteogenesis imperfecta","volume":"132","author":"Song","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"6836092","DOI":"10.1155\/2018\/6836092","article-title":"Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population","volume":"2018","author":"Nikolova","year":"2018","journal-title":"Anal. Cell. Pathol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"41803","DOI":"10.1038\/srep41803","article-title":"A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGF\u03b2 signaling and cause autosomal dominant spondylocarpotarsal synostosis","volume":"7","author":"Zieba","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Zieba, J., Forlenza, K.N., Khatra, J.S., Sarukhanov, A., Duran, I., Rigueur, D., Lyons, K.M., Cohn, D.H., Merrill, A.E., and Krakow, D. (2016). TGF\u03b2 and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions. PLoS Genet., 12.","DOI":"10.1371\/journal.pgen.1005936"},{"key":"ref_25","doi-asserted-by":"crossref","unstructured":"Xu, L., Sun, W., Qin, X., Qiu, Y., and Zhu, Z. (2016). The TGFB1 gene is associated with curve severity but not with the development of adolescent idiopathic scoliosis: A replication study in the Chinese population. BMC Musculoskelet. Disord., 17.","DOI":"10.1186\/s12891-016-0863-8"},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Chen, P.Y., Qin, L., and Simons, M. (2023). TGF\u03b2 signaling pathways in human health and disease. Front. Mol. Biosci., 10.","DOI":"10.3389\/fmolb.2023.1113061"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"e10530","DOI":"10.1002\/jbm4.10530","article-title":"Inhibition of TGF-\u03b2 Increases Bone Volume and Strength in a Mouse Model of Osteogenesis Imperfecta","volume":"5","author":"Greene","year":"2021","journal-title":"JBMR Plus."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1111\/cge.12409","article-title":"A cross-sectional multicenter study of osteogenesis imperfecta in North America\u2014Results from the linked clinical research centers","volume":"87","author":"Patel","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"237","DOI":"10.2106\/JBJS.L.01596","article-title":"Behavior of scoliosis during growth in children with osteogenesis imperfecta","volume":"96","author":"Anissipour","year":"2014","journal-title":"J. Bone Joint Surg. Am."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s00586-002-0491-x","article-title":"Scoliosis in children with osteogenesis imperfecta: Influence of severity of disease and age of reaching motor milestones","volume":"12","author":"Engelbert","year":"2003","journal-title":"Eur. Spine J."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1111\/crj.12092","article-title":"Spinal deformities and lung function in adults with osteogenesis imperfecta","volume":"8","author":"Wekre","year":"2014","journal-title":"Clin. Respir. J."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1002\/jbmr.1891","article-title":"Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation","volume":"28","author":"Shapiro","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/dds371","article-title":"Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen","volume":"22","author":"Schwarze","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/00003086-198201000-00004","article-title":"The development of the spinal deformities in osteogenesis imperfecta","volume":"162","author":"Norimatsu","year":"1982","journal-title":"Clin. Orthop. Relat. Res."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"E488","DOI":"10.1097\/BRS.0b013e31811ec2d9","article-title":"Correlation of scoliotic curvature with Z-score bone mineral density and body mass index in patients with osteogenesis imperfecta","volume":"32","author":"Watanabe","year":"2007","journal-title":"Spine"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"100","DOI":"10.5435\/JAAOS-D-15-00169","article-title":"The Spine in Patients With Osteogenesis Imperfecta","volume":"25","author":"Wallace","year":"2017","journal-title":"J. Am. Acad. Orthop. Surg."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1097\/BRS.0b013e3181a39646","article-title":"Prevalence of vertebral pars defects (spondylolysis) in a population with osteogenesis imperfecta","volume":"34","author":"Verra","year":"2009","journal-title":"Spine"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1097\/BPO.0b013e31822889c9","article-title":"The incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta","volume":"31","author":"Hatz","year":"2011","journal-title":"J. Pediatr. Orthop."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"212","DOI":"10.2106\/00004623-199602000-00007","article-title":"Vertebral body shape as a predictor of spinal deformity in osteogenesis imperfecta","volume":"78","author":"Ishikawa","year":"1996","journal-title":"J. Bone Jt. Surg. Am."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/s00774-018-0952-x","article-title":"Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy","volume":"37","author":"Kashii","year":"2019","journal-title":"J. Bone Miner. Metab."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2150","DOI":"10.1002\/jbmr.2567","article-title":"Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years","volume":"30","author":"Palomo","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bone.2016.02.018","article-title":"Scoliosis in osteogenesis imperfecta caused by COL1A1\/COL1A2 mutations\u2014Genotype-phenotype correlations and effect of bisphosphonate treatment","volume":"86","author":"Sato","year":"2016","journal-title":"Bone"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1016\/j.bone.2006.04.004","article-title":"Vertebral morphometry in children and adolescents with osteogenesis imperfecta: Effect of intravenous pamidronate treatment","volume":"39","author":"Land","year":"2006","journal-title":"Bone"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.bone.2016.02.015","article-title":"Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types, I.; III and IV treated with Pamidronate","volume":"87","author":"Lindahl","year":"2016","journal-title":"Bone"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1002\/jbmr.2177","article-title":"First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome","volume":"29","author":"Chen","year":"2014","journal-title":"J. Bone Miner. Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1097\/01.bsd.0000208253.06706.42","article-title":"All pedicle screw fixation technique in correcting severe kyphoscoliosis in an osteogenesis imperfecta patient: A case report","volume":"19","author":"Pan","year":"2006","journal-title":"J. Spinal Disord. Tech."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"283","DOI":"10.3109\/17453679809000931","article-title":"Spinal complications in osteogenesis imperfecta: 47 patients 1-16 years of age","volume":"69","author":"Engelbert","year":"1998","journal-title":"Acta Orthop. Scand."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1007\/s00264-016-3132-4","article-title":"Adolescent idiopathic scoliosis: Evidence for intrinsic factors driving aetiology and progression","volume":"40","author":"Jones","year":"2016","journal-title":"Int. Orthop."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1016\/S0021-9258(18)32345-7","article-title":"Transforming growth factor-beta in human platelets. Identification of a major storage site, purification, and characterization","volume":"258","author":"Assoian","year":"1983","journal-title":"J. Biol. Chem."},{"key":"ref_50","first-page":"4162","article-title":"Molecular events in the processing of recombinant type 1 pre-pro-transforming growth factor beta to the mature polypeptide","volume":"8","author":"Gentry","year":"1988","journal-title":"Mol. Cell Biol."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Robertson, I.B., and Rifkin, D.B. (2016). Regulation of the Bioavailability of TGF-\u03b2 and TGF-\u03b2-Related Proteins. Cold Spring Harb. Perspect. Biol., 8.","DOI":"10.1101\/cshperspect.a021907"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1242\/jcs.00229","article-title":"Making sense of latent TGFbeta activation","volume":"116","author":"Annes","year":"2003","journal-title":"J. Cell Sci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1038\/labinvest.2011.124","article-title":"TGF-\u03b2 signaling in endothelial cells, but not neuroepithelial cells, is essential for cerebral vascular development","volume":"91","author":"Nguyen","year":"2011","journal-title":"Lab. Investig."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/0092-8674(92)90627-O","article-title":"Receptors for the TGF-beta family","volume":"69","year":"1992","journal-title":"Cell"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1038\/cr.2008.328","article-title":"Non-Smad pathways in TGF-beta signaling","volume":"19","author":"Zhang","year":"2009","journal-title":"Cell Res."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1038\/nm.3544","article-title":"Excessive transforming growth factor-\u03b2 signaling is a common mechanism in osteogenesis imperfecta","volume":"20","author":"Grafe","year":"2014","journal-title":"Nat. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1002\/jbmr.2120","article-title":"Role of TGF-\u03b2 in a mouse model of high turnover renal osteodystrophy","volume":"29","author":"Liu","year":"2014","journal-title":"J. Bone Miner. Res."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"18813","DOI":"10.1073\/pnas.0507417102","article-title":"TGF-beta regulates the mechanical properties and composition of bone matrix","volume":"102","author":"Balooch","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1042\/bj3020527","article-title":"Interaction of the small interstitial proteoglycans biglycan, decorin and fibromodulin with transforming growth factor beta","volume":"302","author":"Hildebrand","year":"1994","journal-title":"Biochem. J."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/S0945-053X(00)00097-4","article-title":"Influence of decorin expression on transforming growth factor-beta-mediated collagen gel retraction and biglycan induction","volume":"19","author":"Markmann","year":"2000","journal-title":"Matrix Biol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e10171","DOI":"10.1002\/jbm4.10171","article-title":"The Osteocyte Transcriptome Is Extensively Dysregulated in Mouse Models of Osteogenesis Imperfecta","volume":"3","author":"Zimmerman","year":"2019","journal-title":"JBMR Plus."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"37923","DOI":"10.1074\/jbc.274.53.37923","article-title":"Use of the Cre\/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice","volume":"274","author":"Forlino","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"e256","DOI":"10.1038\/emm.2016.75","article-title":"Smad4 controls bone homeostasis through regulation of osteoblast\/osteocyte viability","volume":"48","author":"Moon","year":"2016","journal-title":"Exp. Mol. Med."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"18117","DOI":"10.1073\/pnas.0505996102","article-title":"Regulation of muscle growth by multiple ligands signaling through activin type II receptors","volume":"102","author":"Lee","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"15153","DOI":"10.1038\/ncomms15153","article-title":"Activin A more prominently regulates muscle mass in primates than does GDF8","volume":"8","author":"Latres","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/sj.emboj.7600067","article-title":"Endogenous TGF-beta signaling suppresses maturation of osteoblastic mesenchymal cells","volume":"23","author":"Maeda","year":"2004","journal-title":"EMBO J."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"13809","DOI":"10.1074\/jbc.M117.782128","article-title":"Activin receptor type 2A (ACVR2A) functions directly in osteoblasts as a negative regulator of bone mass","volume":"292","author":"Goh","year":"2017","journal-title":"Biol. Chem."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/jor.20359","article-title":"Distinct roles of bone morphogenetic proteins in osteogenic differentiation of mesenchymal stem cells","volume":"25","author":"Luu","year":"2007","journal-title":"J. Orthop. Res."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1302\/1863-2548.13.190119","article-title":"Induction of periosteal bone formation by intraosseous BMP-2 injection in a mouse model of osteogenesis imperfecta","volume":"13","author":"Cheng","year":"2019","journal-title":"J. Child. Orthop."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/jor.25414","article-title":"Modeling anabolic and antiresorptive therapies for fracture healing in a mouse model of osteogenesis imperfecta","volume":"41","author":"Dao","year":"2023","journal-title":"Orthop. Res."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"3534","DOI":"10.1093\/nar\/gkw222","article-title":"FAM46 proteins are novel eukaryotic non-canonical poly(A) polymerases","volume":"44","author":"Kuchta","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"dev166710","DOI":"10.1242\/dev.166710","article-title":"Fam46a regulates BMP-dependent pre-placodal ectoderm differentiation in Xenopus","volume":"145","author":"Watanabe","year":"2018","journal-title":"Development"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/12\/3484\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:58:46Z","timestamp":1760108326000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/13\/12\/3484"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,14]]},"references-count":72,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["jcm13123484"],"URL":"https:\/\/doi.org\/10.3390\/jcm13123484","relation":{},"ISSN":["2077-0383"],"issn-type":[{"type":"electronic","value":"2077-0383"}],"subject":[],"published":{"date-parts":[[2024,6,14]]}}}