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Glorieux,                FH, Bishop,                NJ,              Plotkin, H,                Chabot, G,                Lanoue, G,                Travers,            R. Cyclic            administration of pamidronate in children with severe osteogenesis            imperfecta. N Engl J Med          1998;339: 947\u201352.","DOI":"10.1056\/NEJM199810013391402"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Ward,              LM, Rauch,                F, Whyte,                MP,                D\u2019Astous,            J, Gates,                PE, Grogan,                D, et al.            Alendronate for the treatment of pediatric osteogenesis imperfecta: a            randomized placebo-controlled study. J Clin Endocrinol            Metab          2011;96: 355\u201364.","DOI":"10.1210\/jc.2010-0636"},{"key":"3","doi-asserted-by":"publisher","unstructured":"3. Bishop,              N, Adami,                S, Ahmed,                SF, Ant\u00f3n,                J, Arundel,                P, Burren,                CP, et al.            Risedronate in children with osteogenesis imperfecta: a randomised,            double-blind, placebo-controlled trial. Lancet          2013;382: 1424\u201332.","DOI":"10.1016\/S0140-6736(13)61091-0"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Whyte,              MP, Wenkert,                D,              Clements, KL,                McAlister,              WH, Mumm,                S.            Bisphosphonate-induced osteopetrosis. N Engl J            Med          2003;349: 457\u201363.","DOI":"10.1056\/NEJMoa023110"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Vuorimies,                I,                M\u00e4yr\u00e4np\u00e4\u00e4,              MK, Valta,                H, Kr\u00f6ger,                H,                Toiviainen-Salo,              S, M\u00e4kitie,                O.            Bisphosphonate treatment and the characteristics of femoral fractures in            children with osteogenesis imperfecta. J Clin Endocrinol            Metab          2017;102: 1333\u20139.","DOI":"10.1210\/jc.2016-3745"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Contaldo,                M, Luzzi,                V, Ierardo,                G,              Raimondo, E,                Boccellino,              M, Ferati,                K, et al.            Bisphosphonate-related osteonecrosis of the jaws and dental surgery            procedures in children and young people with osteogenesis imperfecta: A systematic            review. J Stomatol Oral Maxillofac Surg          2020;121: 556\u201362.","DOI":"10.1016\/j.jormas.2020.03.003"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Lasky,              S, Moshal,                T,              Shakoori, P,                Roohani, I,                Jolibois,            M, Youn,                S, et al.            The risk of medication-related osteonecrosis of the jaw in children:            guidance for antiresorptive use in pediatric patients. J Oral            Maxillofac Surg          2024;82: 1285\u201394.","DOI":"10.1016\/j.joms.2024.06.162"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Barnes,              AM, Chang,                W, Morello,                R, Cabral,                WA, Weis,                M, Eyre,                DR, et al.            Deficiency of cartilage-associated protein in recessive lethal            osteogenesis imperfecta. N Engl J Med          2006;355: 2757\u201364.","DOI":"10.1056\/NEJMoa063804"},{"key":"9","doi-asserted-by":"publisher","unstructured":"9. Morello,              R, Bertin,                TK, Chen,                Y, Hicks,                J,                Tonachini,              L, Monticone,                M, et al.            CRTAP is required for prolyl 3- hydroxylation and mutations cause            recessive osteogenesis imperfecta. Cell          2006;127: 291\u2013304.","DOI":"10.1016\/j.cell.2006.08.039"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Cabral,              WA, Chang,                W, Barnes,                AM, Weis,                M, Scott,                MA, Leikin,                S, et al.            Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone            disorder resembling lethal\/severe osteogenesis imperfecta. Nat            Genet          2007;39: 359\u201365.","DOI":"10.1038\/ng1968"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. van                Dijk, FS,                Nesbitt,            IM, Zwikstra,                EH,              Nikkels, PG,                Piersma,            SR, Fratantoni,                SA, et al.            PPIB mutations cause severe osteogenesis imperfecta.            Am J Hum Genet          2009;85: 521\u20137.","DOI":"10.1016\/j.ajhg.2009.09.001"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Ishida,              Y, Kubota,                H,              Yamamoto, A,                Kitamura,            A, B\u00e4chinger,                HP, Nagata,                K. Type I            collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in            N-propeptide processing and fibrillogenesis. Mol Biol            Cell          2006;17: 2346\u201355.","DOI":"10.1091\/mbc.e05-11-1065"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ishikawa,                Y, Vranka,                J, Wirz,                J, Nagata,                K,                B\u00e4chinger,              HP. The rough            endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone            that interacts with collagens. J Biol Chem          2008;283: 31584\u201390.","DOI":"10.1074\/jbc.M802535200"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. van                Dijk, FS,                Semler, O,                Etich, J,                K\u00f6hler, A,                Jimenez-Estrada,              JA,                Bravenboer,              N, et al.            Interaction between KDELR2 and HSP47 as a key determinant in osteogenesis            imperfecta caused by bi-allelic variants in KDELR2. Am J Hum            Genet          2020;107: 989\u201399.","DOI":"10.1016\/j.ajhg.2020.09.009"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Mayer,              U, Aumailley,                M, Mann,                K, Timpl,                R, Engel,                J.            Calcium-dependent binding of basement membrane protein BM-40            (osteonectin, SPARC) to basement membrane collagen type IV. Eur            J Biochem          1991;198: 141\u201350.","DOI":"10.1111\/j.1432-1033.1991.tb15996.x"},{"key":"16","unstructured":"16. Sykes,              B, Ogilvie,                D,                Wordsworth,              P, Wallis,                G, Mathew,                C,              Beighton, P,              et al. Consistent linkage of dominantly            inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and            COL1A2. Am J Hum Genet          1990;46: 293\u2013307."},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Stephen,              J, Shukla,                A, Dalal,                A, Girisha,                KM, Shah,                H, Gupta,                N, et al.            Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with            osteogenesis imperfecta. Am J Med Genet A          2014;164A: 1482\u20139.","DOI":"10.1002\/ajmg.a.36481"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Higuchi,              Y, Hasegawa,                K,              Futagawa, N,                Yamashita,              M, Tanaka,                H,                Tsukahara,              H. Genetic            analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype            spectra in 96 probands. Mol Genet Genomic Med          2021;9: e1675.","DOI":"10.1002\/mgg3.1675"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Garibaldi,                N, Besio,                R,                Dalgleish,              R, Villani,                S, Barnes,                AM, Marini,                JC, et al.            Dissecting the phenotypic variability of osteogenesis            imperfecta. Dis Model Mech          2022;15: dmm049398.","DOI":"10.1242\/dmm.049398"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Storoni,              S, Verdonk,                SJE,                Zhytnik, L,                Pals, G,                Treurniet,              S, Elting,                MW, et al.            From genetics to clinical implications: a study of 675 Dutch osteogenesis            imperfecta patients. Biomolecules          2023;13: 281.","DOI":"10.3390\/biom13020281"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Holtz,              AP, Souza,                LT,              Ribeiro, EM,                Acosta, AX,                Lago, RMRS,                Simoni, G,              et al. Genetic analysis of osteogenesis            imperfecta in a large Brazilian cohort. Bone          2023;169: 116683.","DOI":"10.1016\/j.bone.2023.116683"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. T\u00fcys\u00fcz,              B, Elkanova,                L, Uluda\u011f                Alkaya, D,                G\u00fcle\u00e7, \u00c7,                Toksoy, G,                G\u00fcne\u015f, N,              et al. Osteogenesis imperfecta in 140            Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of            those with COL1A1\/A2 and biallelic variants. Bone          2022;155: 116293.","DOI":"10.1016\/j.bone.2021.116293"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Cho,              TJ, Lee,                KE, Lee,                SK, Song,                SJ, Kim,                KJ, Jeon,                D, et al.            A single recurrent mutation in the 5\u2032-UTR of IFITM5 causes osteogenesis            imperfecta type V. Am J Hum Genet          2012;91: 343\u20138.","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Semler,              O, Garbes,                L, Keupp,                K, Swan,                D,                Zimmermann,              K, Becker,                J, et al.            A mutation in the 5\u2032-UTR of IFITM5 creates an in-frame start codon and            causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic            callus. Am J Hum Genet          2012;91: 349\u201357.","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"25","doi-asserted-by":"publisher","unstructured":"25. Li,                F, Song,                N,                Tombran-Tink,              J, Niyibizi,                C. Pigment            epithelium-derived factor enhances differentiation and mineral deposition of human            mesenchymal stem cells. Stem Cells          2013;31: 2714\u201323.","DOI":"10.1002\/stem.1505"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Farber,              CR, Reich,                A, Barnes,                AM,              Becerra, P,                Rauch, F,                Cabral, WA,              et al. A novel IFITM5 mutation in severe            atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment            epithelium-derived factor. J Bone Miner Res          2014;29: 1402\u201311.","DOI":"10.1002\/jbmr.2173"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Gattu,              AK, Swenson,                ES,              Iwakiri, Y,                Samuel, VT,                Troiano, N,                Berry, R,              et al. Determination of mesenchymal stem            cell fate by pigment epithelium-derived factor (PEDF) results in increased adiposity and            reduced bone mineral content. FASEB J          2013;27: 4384\u201394.","DOI":"10.1096\/fj.13-232900"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Moffatt,              P, Gaumond,                MH, Salois,                P, Sellin,                K,              Bessette, MC,                Godin, E,              et al. Bril: a novel bone-specific            modulator of mineralization. J Bone Miner Res          2008;23: 1497\u2013508.","DOI":"10.1359\/jbmr.080412"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Lapunzina,                P, Aglan,                M, Temtamy,                S,                Caparr\u00f3s-Mart\u00edn,              JA, Valencia,                M, Let\u00f3n,                R, et al.            Identification of a frameshift mutation in Osterix in a patient with            recessive osteogenesis imperfecta. Am J Hum Genet          2010;87: 110\u20134.","DOI":"10.1016\/j.ajhg.2010.05.016"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Shaheen,              R, Alazami,                AM,                Alshammari,              MJ, Faqeih,                E,              Alhashmi, N,                Mousa, N,              et al. Study of autosomal recessive            osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B            mutation. J Med Genet          2012;49: 630\u20135.","DOI":"10.1136\/jmedgenet-2012-101142"},{"key":"31","doi-asserted-by":"crossref","unstructured":"31. Fahiminiya,                S,              Majewski, J,                Mort, J,                Moffatt, P,                Glorieux,              FH, Rauch,                F. Mutations            in WNT1 are a cause of osteogenesis imperfecta. J Med            Genet          2013;50: 345\u20138.","DOI":"10.1136\/jmedgenet-2013-101567"},{"key":"32","doi-asserted-by":"crossref","unstructured":"32. Keller,              RB, Tran,                TT, Pyott,                SM, Pepin,                MG,                Savarirayan,              R,                McGillivray,              G, et al.            Monoallelic and biallelic CREB3L1 variant causes mild and severe            osteogenesis imperfecta, respectively. Genet Med          2018;20: 411\u20139.","DOI":"10.1038\/gim.2017.115"},{"key":"33","doi-asserted-by":"crossref","unstructured":"33. Mendoza-Londono,                R,                Fahiminiya,              S, Majewski,                J,                T\u00e9treault,              M, Nadaf,                J, Kannu,                P, et al.            Care4Rare Canada Consortium. Recessive            osteogenesis imperfecta caused by missense mutations in SPARC.            Am J Hum Genet          2015;96: 979\u201385.","DOI":"10.1016\/j.ajhg.2015.04.021"},{"key":"34","doi-asserted-by":"crossref","unstructured":"34. Lindert,              U, Cabral,                WA,                Ausavarat,              S,                Tongkobpetch,              S, Ludin,                K, Barnes,                AM, et al.            MBTPS2 mutations cause defective regulated intramembrane proteolysis in            X-linked osteogenesis imperfecta. Nat Commun          2016;7: 11920.","DOI":"10.1038\/ncomms11920"},{"key":"35","doi-asserted-by":"crossref","unstructured":"35. Homan,              EP, Rauch,                F, Grafe,                I, Lietman,                C, Doll,                JA, Dawson,                B, et al.            Mutations in SERPINF1 cause osteogenesis imperfecta type            VI. J Bone Miner Res          2011;26: 2798\u2013803.","DOI":"10.1002\/jbmr.487"},{"key":"36","doi-asserted-by":"crossref","unstructured":"36. Christiansen,                HE,                Schwarze,            U, Pyott,                SM,              AlSwaid, A,                Al Balwi,            M, Alrasheed,                S, et al.            Homozygosity for a missense mutation in SERPINH1, which encodes the            collagen chaperone protein HSP47, results in severe recessive osteogenesis            imperfecta. Am J Hum Genet          2010;86: 389\u201398.","DOI":"10.1016\/j.ajhg.2010.01.034"},{"key":"37","doi-asserted-by":"crossref","unstructured":"37. Kelley,              BP, Malfait,                F, Bonafe,                L,                Baldridge,              D, Homan,                E, Symoens,                S, et al.            Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck            syndrome. J Bone Miner Res          2011;26: 666\u201372.","DOI":"10.1002\/jbmr.250"},{"key":"38","doi-asserted-by":"crossref","unstructured":"38. Shaheen,              R, Al-Owain,                M, Faqeih,                E,                Al-Hashmi,              N, Awaji,                A,              Al-Zayed, Z,              et al. Mutations in FKBP10 cause both Bruck            syndrome and isolated osteogenesis imperfecta in humans. Am J            Med Genet A          2011;155A: 1448\u201352.","DOI":"10.1002\/ajmg.a.34025"},{"key":"39","doi-asserted-by":"crossref","unstructured":"39. Puig-Herv\u00e1s,                MT,              Temtamy, S,                Aglan, M,                Valencia,            M,                Mart\u00ednez-Glez,              V,                Ballesta-Mart\u00ednez,              MJ, et al.            Mutations in PLOD2 cause autosomal-recessive connective tissue disorders            within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.            Hum Mutat          2012;33: 1444\u20139.","DOI":"10.1002\/humu.22133"},{"key":"40","doi-asserted-by":"crossref","unstructured":"40. Mart\u00ednez-Glez,                V,              Valencia, M,                Caparr\u00f3s-Mart\u00edn,              JA, Aglan,                M, Temtamy,                S, Tenorio,                J, et al.            Identification of a mutation causing deficient BMP1\/mTLD proteolytic            activity in autosomal recessive osteogenesis imperfecta. Hum            Mutat          2012;33: 343\u201350.","DOI":"10.1002\/humu.21647"},{"key":"41","doi-asserted-by":"crossref","unstructured":"41. Tuysuz,              B, Uludag                Alkaya, D,                Geyik, F,                Alayl\u0131o\u011flu,              M, Kasap,                B,                Kurugo\u011flu,              S, et al.            Biallelic frameshift variants in <i>PHLDB1<\/i> cause mild-type            osteogenesis imperfecta with regressive spondylometaphyseal changes.            J Med Genet          2023;60: 819\u201326.","DOI":"10.1136\/jmg-2022-108763"},{"key":"42","doi-asserted-by":"crossref","unstructured":"42. Nomenclature for constitutional            (intrinsic) diseases of bones. Pediatrics          1971;47: 431\u20134.","DOI":"10.1542\/peds.47.2.431"},{"key":"43","doi-asserted-by":"crossref","unstructured":"43. International nomenclature of            constitutional diseases of bone. Revision, May, 1977. Ann Radiol            (Paris)          1978;21: 253\u20138.","DOI":"10.1002\/ajmg.1320030107"},{"key":"44","doi-asserted-by":"crossref","unstructured":"44. Sillence,                DO, Rimoin,                DL.            Classification of osteogenesis imperfect.            Lancet          1978;1: 1041\u20132.","DOI":"10.1016\/S0140-6736(78)90763-8"},{"key":"45","doi-asserted-by":"crossref","unstructured":"45. Sillence,                DO, Senn,                A, Danks,                DM. Genetic            heterogeneity in osteogenesis imperfecta. J Med Genet          1979;16: 101\u201316.","DOI":"10.1136\/jmg.16.2.101"},{"key":"46","doi-asserted-by":"crossref","unstructured":"46. Spranger,                J. The            International Working Group on Constitutional Diseases of Bone.            International classification of osteochondrodysplasias.            Eur J Pediatr          1992;151: 407\u201315.","DOI":"10.1007\/BF01959352"},{"key":"47","doi-asserted-by":"crossref","unstructured":"47. Lachman,                RS.            International nomenclature and classification of the            osteochondrodysplasias (1997). Pediatr Radiol          1998;28: 737\u201344.","DOI":"10.1007\/s002470050458"},{"key":"48","doi-asserted-by":"crossref","unstructured":"48. Hall,              CM.            International nosology and classification of constitutional disorders of            bone (2001). Am J Med Genet          2002;113: 65\u201377.","DOI":"10.1002\/ajmg.10828"},{"key":"49","doi-asserted-by":"crossref","unstructured":"49. Superti-Furga,                A, Unger,                S. Nosology            and classification of genetic skeletal disorders: 2006 revision.            Am J Med Genet A          2007;143A: 1\u201318.","DOI":"10.1002\/ajmg.a.31483"},{"key":"50","doi-asserted-by":"crossref","unstructured":"50. Warman,              ML,                Cormier-Daire,              V, Hall,                C, Krakow,                D, Lachman,                R,              LeMerrer, M,              et al. Nosology and classification of            genetic skeletal disorders: 2010 revision. Am J Med Genet            A          2011;155A: 943\u201368.","DOI":"10.1002\/ajmg.a.33909"},{"key":"51","doi-asserted-by":"crossref","unstructured":"51. Bonafe,              L,                Cormier-Daire,              V, Hall,                C, Lachman,                R, Mortier,                G, Mundlos,                S, et al.            Nosology and classification of genetic skeletal disorders: 2015            revision. Am J Med Genet A          2015;167A: 2869\u201392.","DOI":"10.1002\/ajmg.a.37365"},{"key":"52","doi-asserted-by":"crossref","unstructured":"52. Mortier,                GR, Cohn,                DH,                Cormier-Daire,              V, Hall,                C, Krakow,                D, Mundlos,                S, et al.            Nosology and classification of genetic skeletal disorders: 2019            revision. Am J Med Genet A          2019;179: 2393\u2013419.","DOI":"10.1002\/ajmg.a.61366"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53. Biesecker,                LG, Adam,                MP,                Alkuraya,              FS, Amemiya,                AR,              Bamshad, MJ,                Beck, AE,              et al. A dyadic approach to the delineation            of diagnostic entities in clinical genomics. Am J Hum            Genet          2021;108: 8\u201315.","DOI":"10.1016\/j.ajhg.2020.11.013"},{"key":"54","doi-asserted-by":"crossref","unstructured":"54. Unger,              S, Ferreira,                CR,              Mortier, GR,                Ali, H,                Bertola,            DR, Calder,                A, et al.            Nosology of genetic skeletal disorders: 2023 revision.            Am J Med Genet A          2023;191: 1164\u2013209.","DOI":"10.1002\/ajmg.a.63132"},{"key":"55","doi-asserted-by":"crossref","unstructured":"55. Castells,                S, Colbert,                C,                Chakrabarti,              C, Bachtell,                RS,              Kassner, EG,                Yasumura,            S. Therapy of            osteogenesis imperfecta with synthetic salmon calcitonin. J            Pediatr          1979;95: 807\u201311.","DOI":"10.1016\/S0022-3476(79)80741-6"},{"key":"56","doi-asserted-by":"crossref","unstructured":"56. Rebelo,              I, da Silva,                LP, Blanco,                JC,                Monteiro,              ME, Ferreira,                NC. Effects            of synthetic salmon calcitonin therapy in children with osteogenesis            imperfecta. J Int Med Res          1989;17: 401\u20135.","DOI":"10.1177\/030006058901700415"},{"key":"57","doi-asserted-by":"crossref","unstructured":"57. Plante,              L, Veilleux,                LN,                Glorieux,              FH, Weiler,                H, Rauch,                F. Effect of            high-dose vitamin D supplementation on bone density in youth with osteogenesis            imperfecta: A randomized controlled trial. Bone          2016;86: 36\u201342.","DOI":"10.1016\/j.bone.2016.02.013"},{"key":"58","doi-asserted-by":"crossref","unstructured":"58. Hasegawa,                K, Inoue,                M, Seino,                Y,                Morishima,              T, Tanaka,                H. Growth of            infants with osteogenesis imperfecta treated with bisphosphonate.            Pediatr Int          2009;51: 54\u20138.","DOI":"10.1111\/j.1442-200X.2008.02649.x"},{"key":"59","doi-asserted-by":"crossref","unstructured":"59. Adami,              S, Gatti,                D,                Colapietro,              F, Fracassi,                E, Braga,                V, Rossini,                M, et al.            Intravenous neridronate in adults with osteogenesis            imperfecta. J Bone Miner Res          2003;18: 126\u201330.","DOI":"10.1359\/jbmr.2003.18.1.126"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60. Letocha,                AD, Cintas,                HL,                Troendle,              JF, Reynolds,                JC, Cann,                CE,                Chernoff,              EJ, et al.            Controlled trial of pamidronate in children with types III and IV            osteogenesis imperfecta confirms vertebral gains but not short-term functional            improvement. J Bone Miner Res          2005;20: 977\u201386.","DOI":"10.1359\/JBMR.050109"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61. Gatti,              D,              Antoniazzi,            F, Prizzi,                R, Braga,                V, Rossini,                M, Tat\u00f2,                L, et al.            Intravenous neridronate in children with osteogenesis imperfecta: a            randomized controlled study. J Bone Miner Res          2005;20: 758\u201363.","DOI":"10.1359\/JBMR.041232"},{"key":"62","doi-asserted-by":"crossref","unstructured":"62. George,              S, Weber,                DR, Kaplan,                P, Hummel,                K, Monk,                HM, Levine,                MA.            Short-term safety of zoledronic acid in young patients with bone            disorders: an extensive institutional experience. J Clin            Endocrinol Metab          2015;100: 4163\u201371.","DOI":"10.1210\/jc.2015-2680"},{"key":"63","doi-asserted-by":"crossref","unstructured":"63. Kumar,              C, Panigrahi,                I, Somasekhara                Aradhya, A,                Meena, BL,                Khandelwal,              N. Zoledronate            for Osteogenesis imperfecta: evaluation of safety profile in children.            J Pediatr Endocrinol Metab          2016;29: 947\u201352.","DOI":"10.1515\/jpem-2015-0351"},{"key":"64","doi-asserted-by":"crossref","unstructured":"64. Tsimicalis,                A, Boitor,                M, Ferland,                CE, Rauch,                F, Le May,                S, Carrier,                JI, et al.            Pain and quality of life of children and adolescents with osteogenesis            imperfecta over a bisphosphonate treatment cycle. Eur J            Pediatr          2018;177: 891\u2013902.","DOI":"10.1007\/s00431-018-3127-9"},{"key":"65","doi-asserted-by":"crossref","unstructured":"65. Dwan,              K, Phillipi,                CA,              Steiner, RD,                Basel,            D. Bisphosphonate            therapy for osteogenesis imperfecta. Cochrane Database Syst            Rev          2016;10: CD005088.","DOI":"10.1002\/14651858.CD005088.pub4"},{"key":"66","doi-asserted-by":"crossref","unstructured":"66. Bishop,              N, Harrison,                R, Ahmed,                F, Shaw,                N, Eastell,                R,              Campbell, M,              et al. A randomized, controlled            dose-ranging study of risedronate in children with moderate and severe osteogenesis            imperfecta. J Bone Miner Res          2010;25: 32\u201340.","DOI":"10.1359\/jbmr.090712"},{"key":"67","doi-asserted-by":"crossref","unstructured":"67. Sakkers,              R, Kok,                D,                Engelbert,              R, van              Dongen, A,                Jansen, M,                Pruijs, H,              et al. Skeletal effects and functional            outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised            placebo-controlled study. Lancet          2004;363: 1427\u201331.","DOI":"10.1016\/S0140-6736(04)16101-1"},{"key":"68","doi-asserted-by":"crossref","unstructured":"68. Rauch,              F, Munns,                CF, Land,                C, Cheung,                M,              Glorieux,            FH. Risedronate            in the treatment of mild pediatric osteogenesis imperfecta: a randomized            placebo-controlled study. J Bone Miner Res          2009;24: 1282\u20139.","DOI":"10.1359\/jbmr.090213"},{"key":"69","doi-asserted-by":"publisher","unstructured":"69. NIH Consensus Development Panel on            Osteoporosis Prevention, Diagnosis, and Therapy.            Osteoporosis prevention, diagnosis, and therapy.            JAMA          2001;285: 785\u201395.","DOI":"10.1001\/jama.285.6.785"},{"key":"70","doi-asserted-by":"crossref","unstructured":"70. Pothuaud,                L,                Carceller,              P, Hans,                D.            Correlations between grey-level variations in 2D projection images (TBS)            and 3D microarchitecture: applications in the study of human trabecular bone            microarchitecture. Bone          2008;42: 775\u201387.","DOI":"10.1016\/j.bone.2007.11.018"},{"key":"71","doi-asserted-by":"crossref","unstructured":"71. Futagawa,                N,              Hasegawa, K,                Miyahara,            H, Tanaka,                H,                Tsukahara,              H. Trabecular            bone scores in children with osteogenesis imperfecta respond differently to            bisphosphonate treatment depending on disease severity. Front            Pediatr          2024;12: 1500023.","DOI":"10.3389\/fped.2024.1500023"},{"key":"72","doi-asserted-by":"crossref","unstructured":"72. Ohata,              Y, Kitaoka,                T, Ishimi,                T, Yamada,                C, Nakano,                Y,              Yamamoto, K,              et al. Association of trabecular bone score            and bone mineral apparent density with the severity of bone fragility in children and            adolescents with osteogenesis imperfecta: A cross-sectional study.            PLoS One          2023;18: e0290812.","DOI":"10.1371\/journal.pone.0290812"},{"key":"73","doi-asserted-by":"crossref","unstructured":"73. Balemans,                W, Ebeling,                M, Patel,                N, Van Hul,                E, Olson,                P,              Dioszegi, M,              et al. Increased bone density in            sclerosteosis is due to the deficiency of a novel secreted protein            (SOST). Hum Mol Genet          2001;10: 537\u201343.","DOI":"10.1093\/hmg\/10.5.537"},{"key":"74","doi-asserted-by":"crossref","unstructured":"74. Brunkow,                ME,              Gardner, JC,                Van Ness,            J, Paeper,                BW,                Kovacevich,              BR, Proll,                S, et al.            Bone dysplasia sclerosteosis results from loss of the SOST gene product,            a novel cystine knot-containing protein. Am J Hum Genet          2001;68: 577\u201389.","DOI":"10.1086\/318811"},{"key":"75","doi-asserted-by":"crossref","unstructured":"75. Sinder,              BP, Eddy,                MM,              Ominsky, MS,                Caird, MS,                Marini, JC,                Kozloff,            KM. Sclerostin            antibody improves skeletal parameters in a Brtl\/+ mouse model of osteogenesis            imperfecta. J Bone Miner Res          2013;28: 73\u201380.","DOI":"10.1002\/jbmr.1717"},{"key":"76","doi-asserted-by":"crossref","unstructured":"76. Sinder,              BP, White,                LE, Salemi,                JD,              Ominsky, MS,                Caird, MS,                Marini, JC,              et al. Adult Brtl\/+ mouse model of            osteogenesis imperfecta demonstrates anabolic response to sclerostin antibody treatment            with increased bone mass and strength. Osteoporos Int          2014;25: 2097\u2013107.","DOI":"10.1007\/s00198-014-2737-y"},{"key":"77","doi-asserted-by":"crossref","unstructured":"77. Grafe,              I, Alexander,                S, Yang,                T, Lietman,                C, Homan,                EP,              Munivez, E,              et al. Sclerostin antibody treatment            improves the bone phenotype of Crtap(-\/-) mice, a model of recessive osteogenesis            imperfecta. J Bone Miner Res          2016;31: 1030\u201340.","DOI":"10.1002\/jbmr.2776"},{"key":"78","doi-asserted-by":"crossref","unstructured":"78. Roschger,                A,              Roschger, P,                Keplingter,              P,              Klaushofer,            K, Abdullah,                S,              Kneissel, M,              et al. Effect of sclerostin antibody            treatment in a mouse model of severe osteogenesis imperfecta.            Bone          2014;66: 182\u20138.","DOI":"10.1016\/j.bone.2014.06.015"},{"key":"79","doi-asserted-by":"crossref","unstructured":"79. Sinder,              BP, Salemi,                JD,              Ominsky, MS,                Caird, MS,                Marini, JC,                Kozloff,            KM. Rapidly            growing Brtl\/+ mouse model of osteogenesis imperfecta improves bone mass and strength            with sclerostin antibody treatment. Bone          2015;71: 115\u201323.","DOI":"10.1016\/j.bone.2014.10.012"},{"key":"80","doi-asserted-by":"crossref","unstructured":"80. Sinder,              BP, Lloyd,                WR, Salemi,                JD, Marini,                JC, Caird,                MS, Morris,                MD, et al.            Effect of anti-sclerostin therapy and osteogenesis imperfecta on            tissue-level properties in growing and adult mice while controlling for tissue            age. Bone          2016;84: 222\u20139.","DOI":"10.1016\/j.bone.2016.01.001"},{"key":"81","doi-asserted-by":"publisher","unstructured":"81. Cardinal,                M, Tys,                J, Roels,                T, Lafont,                S, Ominsky,                MS,                Devogelaer,              JP, et al.            Sclerostin antibody reduces long bone fractures in the oim\/oim model of            osteogenesis imperfecta. Bone          2019;124: 137\u201347.","DOI":"10.1016\/j.bone.2019.04.011"},{"key":"82","doi-asserted-by":"crossref","unstructured":"82. Cardinal,                M,              Chretien, A,                Roels, T,                Lafont, S,                Ominsky,            MS, Devogelaer,                JP, et al.            Gender-related impact of sclerostin antibody on bone in the osteogenesis            imperfecta mouse. Front Genet          2021;12: 705505.","DOI":"10.3389\/fgene.2021.705505"},{"key":"83","doi-asserted-by":"crossref","unstructured":"83. Bekker,              PJ, Holloway,                DL,                Rasmussen,              AS, Murphy,                R, Martin,                SW, Leese,                PT, et al.            A single-dose placebo-controlled study of AMG 162, a fully human            monoclonal antibody to RANKL, in postmenopausal women. J Bone            Miner Res          2004;19: 1059\u201366.","DOI":"10.1359\/JBMR.040305"},{"key":"84","doi-asserted-by":"crossref","unstructured":"84. Gatti,              D, Rossini,                M,              Viapiana, O,                Povino, MR,                Liuzza, S,                Fracassi,            E, et al.            Teriparatide treatment in adult patients with osteogenesis imperfecta            type I. Calcif Tissue Int          2013;93: 448\u201352.","DOI":"10.1007\/s00223-013-9770-2"},{"key":"85","doi-asserted-by":"crossref","unstructured":"85. Orwoll,              ES, Shapiro,                J, Veith,                S, Wang,                Y, Lapidus,                J, Vanek,                C, et al.            Evaluation of teriparatide treatment in adults with osteogenesis            imperfecta. J Clin Invest          2014;124: 491\u20138.","DOI":"10.1172\/JCI71101"},{"key":"86","doi-asserted-by":"crossref","unstructured":"86. Leali,              PT, Balsano,                M,                Maestretti,              G, Brusoni,                M, Amorese,                V, Ciurlia,                E, et al.            Efficacy of teriparatide <i>vs<\/i> neridronate in adults with            osteogenesis imperfecta type I: a prospective randomized international clinical            study. Clin Cases Miner Bone Metab          2017;14: 153\u20136.","DOI":"10.11138\/ccmbm\/2017.14.1.153"},{"key":"87","doi-asserted-by":"crossref","unstructured":"87. Grafe,              I, Yang,                T,                Alexander,              S, Homan,                EP,              Lietman, C,                Jiang, MM,              et al. Excessive transforming growth            factor-\u03b2 signaling is a common mechanism in osteogenesis imperfecta.            Nat Med          2014;20: 670\u20135.","DOI":"10.1038\/nm.3544"},{"key":"88","doi-asserted-by":"crossref","unstructured":"88. Song,              IW, Nagamani,                SC, Nguyen,                D, Grafe,                I, Sutton,                VR, Gannon,                FH, et al.            Targeting TGF-\u03b2 for treatment of osteogenesis imperfecta.            J Clin Invest          2022;132: e152571.","DOI":"10.1172\/JCI152571"},{"key":"89","doi-asserted-by":"crossref","first-page":"e10530","DOI":"10.1002\/jbm4.10530","volume":"5","year":"2021","unstructured":"89. Greene,              B, Russo,                RJ, Dwyer,                S, Malley,                K, Roberts,                E,              Serrielo, J,              et al. Inhibition of TGF-\u03b2 increases bone            volume and strength in a mouse model of osteogenesis imperfecta.            JBMR Plus          2021;5: e10530.","journal-title":"JBMR Plus","ISSN":"https:\/\/id.crossref.org\/issn\/2473-4039","issn-type":"print"},{"key":"90","doi-asserted-by":"crossref","unstructured":"90. Tauer,              JT, Abdullah,                S, Rauch,                F. Effect of            anti-TGF-\u03b2 treatment in a mouse model of severe osteogenesis imperfecta.            J Bone Miner Res          2019;34: 207\u201314.","DOI":"10.1002\/jbmr.3617"},{"key":"91","doi-asserted-by":"crossref","unstructured":"91. Lisse,              TS, Thiele,                F, Fuchs,                H, Hans,                W,              Przemeck, GK,                Abe, K,              et al. ER stress-mediated apoptosis in a            new mouse model of osteogenesis imperfecta. PLoS Genet          2008;4: e7.","DOI":"10.1371\/journal.pgen.0040007"},{"key":"92","doi-asserted-by":"crossref","unstructured":"92. Besio,              R, Iula,                G,                Garibaldi,              N, Cipolla,                L,                Sabbioneda,              S,              Biggiogera,            M, et al.            4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis            imperfecta patients by enhancing autophagy and stimulating protein            secretion. Biochim Biophys Acta Mol Basis Dis          2018;1864(5 Pt A):            1642\u201352.","DOI":"10.1016\/j.bbadis.2018.02.002"},{"key":"93","doi-asserted-by":"crossref","unstructured":"93. Takeyari,                S, Kubota,                T, Ohata,                Y,              Fujiwara, M,                Kitaoka, T,                Taga, Y,              et al. 4-Phenylbutyric acid enhances the            mineralization of osteogenesis imperfecta iPSC-derived osteoblasts.            J Biol Chem          2021;296: 100027.","DOI":"10.1074\/jbc.RA120.014709"},{"key":"94","doi-asserted-by":"crossref","unstructured":"94. Duangchan,                T,                Tawonsawatruk,              T,                Angsanuntsukh,              C, Trachoo,                O, Hongeng,                S,                Kitiyanant,              N, et al.            Amelioration of osteogenesis in iPSC-derived mesenchymal stem cells from            osteogenesis imperfecta patients by endoplasmic reticulum stress            inhibitor. Life Sci          2021;278: 119628.","DOI":"10.1016\/j.lfs.2021.119628"},{"key":"95","doi-asserted-by":"crossref","unstructured":"95. Duran,              I, Zieba,                J, Csukasi,                F, Martin,                JH,                Wachtell,            D, Barad,                M, et al.            4-PBA treatment improves bone phenotypes in the aga2 mouse model of            osteogenesis imperfecta. J Bone Miner Res          2022;37: 675\u201386.","DOI":"10.1002\/jbmr.4501"},{"key":"96","doi-asserted-by":"crossref","unstructured":"96. Scheiber,                AL,                Wilkinson,              KJ, Suzuki,                A,                Enomoto-Iwamoto,              M, Kaito,                T, Cheah,                KS, et al.            4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing            transition of hypertrophic chondrocytes to osteoblasts. JCI            Insight          2022;7: e149636.","DOI":"10.1172\/jci.insight.149636"},{"key":"97","doi-asserted-by":"crossref","unstructured":"97. Kawai,              S, Yoshitomi,                H, Sunaga,                J, Alev,                C, Nagata,                S, Nishio,                M, et al.            In vitro bone-like nodules generated from patient-derived iPSCs            recapitulate pathological bone phenotypes. Nat Biomed            Eng          2019;3: 558\u201370.","DOI":"10.1038\/s41551-019-0410-7"},{"key":"98","doi-asserted-by":"crossref","unstructured":"98. Bateman,                JF,                Sampurno,            L, Maurizi,                A, Lamand\u00e9,                SR, Sims,                NA, Cheng,                TL, et al.            Effect of rapamycin on bone mass and strength in the \u03b12(I)-G610C mouse            model of osteogenesis imperfecta. 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