Jovanovic M, Guterman-Ram G, Marini JC (2022) Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types. Endocr Rev 43:61–90
Etich J, Rehberg M, Eckes B, Sengle G, Semler O, Zaucke F (2020) Signaling pathways affected by mutations causing osteogenesis imperfecta. Cell Signal 76:109789
Article CAS PubMed Google Scholar
Marini JC, Forlino A, Bachinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O (2017) Osteogenesis imperfecta. Nat Rev Dis Primers 3:17052
Folkestad L, Hald JD, Gram J, Langdahl BL, Hermann AP, Diederichsen AC, Abrahamsen B, Brixen K (2016) Cardiovascular disease in patients with osteogenesis imperfecta—a nationwide, register-based cohort study. Int J Cardiol 225:250–257
Dimori M, Fett J, Leikin S, Otsuru S, Thostenson JD, Carroll JL, Morello R (2023) Distinct type I collagen alterations cause intrinsic lung and respiratory defects of variable severity in mouse models of osteogenesis imperfecta. J Physiol 601:355–379
Article CAS PubMed Google Scholar
Gochuico BR, Hossain M, Talvacchio SK, Zuo MXG, Barton M, Dang Do AN, Marini JC (2023) Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities. J Med Genet 60:1067–1075
Article CAS PubMed Google Scholar
Hald JD, Folkestad L, Swan CZ, Wanscher J, Schmidt M, Gjorup H, Haubek D, Leonhard CH, Larsen DA, Hjortdal JO, Harslof T, Duno M, Lund AM, Jensen JB, Brixen K, Langdahl B (2018) Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults. Osteoporos Int 29:2781–2789
Article CAS PubMed Google Scholar
Tauer JT, Robinson ME, Rauch F (2019) Osteogenesis imperfecta: new perspectives from clinical and translational research. JBMR Plus 3:e10174
Article PubMed PubMed Central Google Scholar
Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101–116
Article CAS PubMed PubMed Central Google Scholar
Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A:1470–1481
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B (2006) CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127:291–304
Article CAS PubMed Google Scholar
Morello R (2018) Osteogenesis imperfecta and therapeutics. Matrix Biol 71–72:294–312
Article PubMed PubMed Central Google Scholar
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A (2023) Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A 191:1164–1209
Article PubMed PubMed Central Google Scholar
Fratzl-Zelman N, Misof BM, Klaushofer K, Roschger P (2015) Bone mass and mineralization in osteogenesis imperfecta. Wien Med Wochenschr 165:271–277
Mahr M, Blouin S, Behanova M, Misof BM, Glorieux FH, Zwerina J, Rauch F, Hartmann MA, Fratzl-Zelman N (2021) Increased osteocyte lacunae density in the hypermineralized bone matrix of children with osteogenesis imperfecta type I. Int J Mol Sci, 22
Boyde A, Travers R, Glorieux FH, Jones SJ (1999) The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int 64:185–190
Article CAS PubMed Google Scholar
Weber M, Roschger P, Fratzl-Zelman N, Schoberl T, Rauch F, Glorieux FH, Fratzl P, Klaushofer K (2006) Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta. Bone 39:616–622
Article CAS PubMed Google Scholar
Blouin S, Fratzl-Zelman N, Glorieux FH, Roschger P, Klaushofer K, Marini JC, Rauch F (2017) Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type v bone indicate exuberant primary bone formation. J Bone Miner Res 32:1884–1892
Article CAS PubMed Google Scholar
Fratzl-Zelman N, Schmidt I, Roschger P, Roschger A, Glorieux FH, Klaushofer K, Wagermaier W, Rauch F, Fratzl P (2015) Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone. Bone 73:233–241
Article CAS PubMed Google Scholar
Fratzl-Zelman N, Morello R, Lee B, Rauch F, Glorieux FH, Misof BM, Klaushofer K, Roschger P (2010) CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII. Bone 46:820–826
Article CAS PubMed Google Scholar
Fratzl-Zelman N, Barnes AM, Weis M, Carter E, Hefferan TE, Perino G, Chang W, Smith PA, Roschger P, Klaushofer K, Glorieux FH, Eyre DR, Raggio C, Rauch F, Marini JC (2016) Non-lethal type viii osteogenesis imperfecta has elevated bone matrix mineralization. J Clin Endocrinol Metab 101:3516–3525
Article CAS PubMed PubMed Central Google Scholar
Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC (2011) COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat 32:598–609
Article CAS PubMed PubMed Central Google Scholar
Fahiminiya S, Al-Jallad H, Majewski J, Palomo T, Moffatt P, Roschger P, Klaushofer K, Glorieux FH, Rauch F (2015) A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children. Hum Mol Genet 24:516–524
Article CAS PubMed Google Scholar
Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, Eyre D, Schwarze U, Byers PH (2018) Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type i procollagen are associated with a unique osteogenesis imperfecta phenotype. J Bone Miner Res 33:1260–1271
Article CAS PubMed Google Scholar
Roschger P, Fratzl-Zelman N, Misof BM, Glorieux FH, Klaushofer K, Rauch F (2008) Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. Calcif Tissue Int 82:263–270
Article CAS PubMed Google Scholar
Webb EA, Balasubramanian M, Fratzl-Zelman N, Cabral WA, Titheradge H, Alsaedi A, Saraff V, Vogt J, Cole T, Stewart S, Crabtree NJ, Sargent BM, Gamsjaeger S, Paschalis EP, Roschger P, Klaushofer K, Shaw NJ, Marini JC, Hogler W (2017) Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unraveling a complex cellular defect. J Clin Endocrinol Metab 102:2019–2028
Article PubMed PubMed Central Google Scholar
Palomo T, Al-Jallad H, Moffatt P, Glorieux FH, Lentle B, Roschger P, Klaushofer K, Rauch F (2014) Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations. Bone 67:63–70
Article CAS PubMed Google Scholar
Vollersen N, Zhao W, Rolvien T, Lange F, Schmidt FN, Sonntag S, Shmerling D, von Kroge S, Stockhausen KE, Sharaf A, Schweizer M, Karsak M, Busse B, Bockamp E, Semler O, Amling M, Oheim R, Schinke T, Yorgan TA (2021) The WNT1(G177C) mutation specifically affects skeletal integrity in a mouse model of osteogenesis imperfecta type XV. Bone Res 9:48
Article CAS PubMed PubMed Central Google Scholar
Elefteriou F, Yang X (2011) Genetic mouse models for bone studies–strengths and limitations. Bone 49:1242–1254
留言 (0)