osteogenesis imperfecta

Summary

Summary: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.

Top Publications

  1. Barnes A, Cabral W, Weis M, Makareeva E, Mertz E, Leikin S, et al. Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. Hum Mutat. 2012;33:1589-98 pubmed publisher
    Recessive osteogenesis imperfecta (OI) is caused by defects in genes whose products interact with type I collagen for modification and/or folding...
  2. Shapiro J, Sponsellor P. Osteogenesis imperfecta: questions and answers. Curr Opin Pediatr. 2009;21:709-16 pubmed publisher
    Considerable attention has recently been focused on the pathogenesis, diagnosis and treatment of osteogenesis imperfecta. Two new genes have been defined in patients with recessive severe or lethal osteogenesis imperfecta types...
  3. Volodarsky M, Markus B, Cohen I, Staretz Chacham O, Flusser H, Landau D, et al. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013;34:582-6 pubmed publisher
    Autosomal recessive osteogenesis imperfecta (OI) was diagnosed in three unrelated Israeli Bedouin consanguineous families. Fractures were evident in all cases in infancy...
  4. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund A, et al. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet. 2013;50:21-4 pubmed publisher
    b>Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5...
  5. Thiele F, Cohrs C, Flor A, Lisse T, Przemeck G, Horsch M, et al. Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. Hum Mol Genet. 2012;21:3535-45 pubmed publisher
    b>Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with skeletal dysplasia of varying severity, predominantly caused by mutations in the collagen I genes (COL1A1/COL1A2)...
  6. Basel D, Steiner R. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 2009;11:375-85 pubmed publisher
    b>Osteogenesis imperfecta is a systemic heritable disorder of connective tissue whose cardinal manifestation is bone fragility...
  7. Cheung M, Arponen H, Roughley P, Azouz M, Glorieux F, Waltimo Siren J, et al. Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants. J Bone Miner Res. 2011;26:405-13 pubmed publisher
    Cranial base abnormalities are an important complication of osteogenesis imperfecta (OI), a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I...
  8. Montpetit K, Dahan Oliel N, Ruck Gibis J, Fassier F, Rauch F, Glorieux F. Activities and participation in young adults with osteogenesis imperfecta. J Pediatr Rehabil Med. 2011;4:13-22 pubmed publisher
    ..in the domains of mobility, self-care, domestic life and social functioning in young adults according to osteogenesis imperfecta (OI) type...
  9. Pyott S, Schwarze U, Christiansen H, Pepin M, Leistritz D, Dineen R, et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet. 2011;20:1595-609 pubmed publisher
    ..B (PPIB) genes result in phenotypes that range from lethal in the perinatal period to severe deforming osteogenesis imperfecta (OI)...

More Information

Publications90

  1. Kelley B, 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;26:666-72 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen...
  2. Uveges T, Collin Osdoby P, Cabral W, Ledgard F, Goldberg L, Bergwitz C, et al. Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. J Bone Miner Res. 2008;23:1983-94 pubmed publisher
    The Brtl mouse, a knock-in model for moderately severe osteogenesis imperfecta (OI), has a G349C substitution in half of type I collagen alpha1(I) chains. We studied the cellular contribution to Brtl bone properties...
  3. Majorana A, Bardellini E, Brunelli P, Lacaita M, Cazzolla A, Favia G. Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. Int J Paediatr Dent. 2010;20:112-8 pubmed publisher
    The aim of this study was to assess the correlation between osteogenesis imperfecta (OI) and dentinogenesis imperfecta (DI) from both a clinical and histological point of view, particularly clarifying the structural and ultrastructural ..
  4. Byers P, Pyott S. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet. 2012;46:475-97 pubmed publisher
    More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous mutations in one of the two type I collagen genes, COL1A1 and COL1A2...
  5. Xia X, Cui Y, Huang Y, Pan L, Yang B, Wang H, et al. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. Clin Chim Acta. 2008;398:148-51 pubmed publisher
    b>Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare heterogeneous group of inherited disorders characterized by low bone mass and increased bone fragility...
  6. Gautieri A, Uzel S, Vesentini S, Redaelli A, Buehler M. Molecular and mesoscale mechanisms of osteogenesis imperfecta disease in collagen fibrils. Biophys J. 2009;97:857-65 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a genetic disorder in collagen characterized by mechanically weakened tendon, fragile bones, skeletal deformities, and in severe cases, prenatal death...
  7. Yang Z, Ke Z, Zeng C, Wang Z, Shi H, Wang L. Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta. Genet Mol Res. 2011;10:177-85 pubmed publisher
    b>Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype...
  8. Rauch F, Lalic L, Roughley P, Glorieux F. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 2010;25:1367-74 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains, alpha1(I) and alpha2(I)...
  9. van Dijk F, Huizer M, Kariminejad A, Marcelis C, Plomp A, Terhal P, et al. Complete COL1A1 allele deletions in osteogenesis imperfecta. Genet Med. 2010;12:736-41 pubmed publisher
    To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV...
  10. Gautieri A, Vesentini S, Redaelli A, Buehler M. Single molecule effects of osteogenesis imperfecta mutations in tropocollagen protein domains. Protein Sci. 2009;18:161-8 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones, skeletal deformities and, in severe cases, prenatal death that affects more than 1 in 10,000 individuals...
  11. Choi J, Sutor S, Lindquist L, Evans G, Madden B, Bergen H, et al. Severe osteogenesis imperfecta in cyclophilin B-deficient mice. PLoS Genet. 2009;5:e1000750 pubmed publisher
    b>Osteogenesis Imperfecta (OI) is a human syndrome characterized by exquisitely fragile bones due to osteoporosis...
  12. Bodian D, Chan T, Poon A, Schwarze U, Yang K, Byers P, et al. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet. 2009;18:463-71 pubmed publisher
    b>Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture...
  13. Laine C, Chung B, Susic M, Prescott T, Semler O, Fiskerstrand T, et al. Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). Eur J Hum Genet. 2011;19:875-81 pubmed publisher
    ..One patient carried a homozygous deletion of exon 4 causing the loss of exons 4 and 5, as demonstrated by cDNA analysis. Our results broaden the spectrum of mutations in LRP5 and provide the first functional data on splice aberrations. ..
  14. Saeves R, Lande Wekre L, Ambjørnsen E, Axelsson S, Nordgarden H, Storhaug K. Oral findings in adults with osteogenesis imperfecta. Spec Care Dentist. 2009;29:102-8 pubmed publisher
    This paper describes oral findings in an adult population with osteogenesis imperfecta (OI) in Norway (n=94). All participants underwent a structured interview and an oral examination. Panoramic radiographs were analyzed...
  15. Santos F, McCall A, Chien W, MERCHANT S. Otopathology in Osteogenesis Imperfecta. Otol Neurotol. 2012;33:1562-6 pubmed publisher
    b>Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen...
  16. Keupp K, Beleggia F, Kayserili H, Barnes A, Steiner M, Semler O, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013;92:565-74 pubmed publisher
    We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures...
  17. Vanleene M, Saldanha Z, Cloyd K, Jell G, Bou Gharios G, Bassett J, et al. Transplantation of human fetal blood stem cells in the osteogenesis imperfecta mouse leads to improvement in multiscale tissue properties. Blood. 2011;117:1053-60 pubmed publisher
    b>Osteogenesis imperfecta (OI or brittle bone disease) is a disorder of connective tissues caused by mutations in the collagen genes...
  18. Panaroni C, Gioia R, Lupi A, Besio R, Goldstein S, Kreider J, et al. In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Blood. 2009;114:459-68 pubmed publisher
    Autosomal dominant osteogenesis imperfecta (OI) caused by glycine substitutions in type I collagen is a paradigmatic disorder for stem cell therapy...
  19. Hatz D, Esposito P, Schroeder B, Burke B, Lutz R, Hasley B. The incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop. 2011;31:655-60 pubmed publisher
    ..The incidence of these diagnoses is recognized in the healthy population. However, their incidence in osteogenesis imperfecta (OI) patients is less well defined.
  20. Shaheen R, Alazami A, Alshammari M, 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;49:630-5 pubmed publisher
    b>Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion...
  21. Gorovoy M, Gorovoy I, Ullman S, Gorovoy J. Descemet stripping automated endothelial keratoplasty for spontaneous descemet membrane detachment in a patient with osteogenesis imperfecta. Cornea. 2012;31:832-5 pubmed publisher
    To report the first use of Descemet stripping automated endothelial keratoplasty (DSAEK) for spontaneous Descemet membrane detachment in a patient with osteogenesis imperfecta (OI), keratoconus, and acute bullous keratopathy.
  22. Faqeih E, Roughley P, Glorieux F, Rauch F. Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. Am J Med Genet A. 2009;149A:461-5 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. Intracranial hemorrhage has been reported in a small number of OI patients...
  23. Puig Hervás M, Temtamy S, Aglan M, Valencia M, Martinez Glez V, Ballesta Martinez M, et al. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012;33:1444-9 pubmed publisher
    PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures...
  24. Adur J, Pelegati V, De Thomaz A, D Souza Li L, Assunção M, Bottcher Luiz F, et al. Quantitative changes in human epithelial cancers and osteogenesis imperfecta disease detected using nonlinear multicontrast microscopy. J Biomed Opt. 2012;17:081407-1 pubmed publisher
    ..changes associated with stroma and epithelial transformation during the progression of cancer and osteogenesis imperfecta (OI) disease...
  25. Takagi M, Ishii T, Barnes A, Weis M, Amano N, Tanaka M, et al. A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. PLoS ONE. 2012;7:e36809 pubmed publisher
    ..helical post-translational modification of type I collagen, which is seen in both dominant and recessive osteogenesis imperfecta (OI)...
  26. Lin H, Lin S, Chuang C, Chen M, Chang C, Niu D. Clinical features of osteogenesis imperfecta in Taiwan. J Formos Med Assoc. 2009;108:570-6 pubmed publisher
    b>Osteogenesis imperfecta (OI) (MIM 166200, 166210, 259420 and 166220) is a congenital disorder characterized by increased bone fragility and low bone mass...
  27. Xu K, Nowak I, Kirchner M, Xu Y. Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges. J Biol Chem. 2008;283:34337-44 pubmed publisher
    The clinical severity of Osteogenesis Imperfecta (OI), also known as the brittle bone disease, relates to the extent of conformational changes in the collagen triple helix induced by Gly substitution mutations...
  28. Vranka J, Pokidysheva E, Hayashi L, Zientek K, Mizuno K, Ishikawa Y, et al. Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones. J Biol Chem. 2010;285:17253-62 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a skeletal disorder primarily caused by mutations in the type I collagen genes...
  29. Martinez Glez V, Valencia M, Caparrós Martín J, 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;33:343-50 pubmed publisher
    ..have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia...
  30. Barnes A, Carter E, Cabral W, Weis M, Chang W, Makareeva E, et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med. 2010;362:521-8 pubmed publisher
    b>Osteogenesis imperfecta is a heritable disorder that causes bone fragility...
  31. Arponen H, Makitie O, Haukka J, Ranta H, Ekholm M, Mäyränpää M, et al. Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta. J Bone Miner Res. 2012;27:1142-9 pubmed publisher
    Pathology in the craniocervical junction is a serious complication of osteogenesis imperfecta (OI). Our aim was to analyze the prevalence and natural course of craniocervical junction anomalies in patients with OI during growth...
  32. Laine C, Joeng K, Campeau P, Kiviranta R, Tarkkonen K, Grover M, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013;368:1809-16 pubmed publisher
    ..652T?G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C?A, p.Ser295*...
  33. Dimasi D, Chen J, Hewitt A, Klebe S, Davey R, Stirling J, et al. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Hum Genet. 2010;127:33-44 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a rare connective tissue disorder caused by mutations in the type I collagen genes, COL1A1 and COL1A2, and is characterised by low bone mass and bone fragility...
  34. Anissipour A, Hammerberg K, Caudill A, Kostiuk T, Tarima S, Zhao H, et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2014;96:237-43 pubmed publisher
    Spinal deformities are common in patients with osteogenesis imperfecta, a heritable disorder that causes bone fragility...
  35. Li M, Xia W, Xing X, Yu W, Hu Y, Jiang Y, et al. Benefit of infusions with ibandronate treatment in children with osteogenesis imperfecta. Chin Med J (Engl). 2011;124:3049-53 pubmed
    b>Osteogenesis imperfecta (OI) is a rare bone disease and its effective treatment is relatively deficient. We tried to assess the effects of new bisphosphonate, ibandronate on children with OI.
  36. Castillo H, Samson Fang L. Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review. Dev Med Child Neurol. 2009;51:17-29 pubmed publisher
    This systematic review of the effects of bisphosphonate treatment in children with osteogenesis imperfecta was conducted using the American Academy for Cerebral Palsy and Developmental Medicine methodology for developing systematic ..
  37. Vanleene M, Porter A, Guillot P, Boyde A, Oyen M, Shefelbine S. Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice. Bone. 2012;50:1317-23 pubmed publisher
    ..The genetic bone disease, osteogenesis imperfecta, is primarily caused by mutations in the collagen type I genes, resulting in bone fragility...
  38. Byra P, Chillag S, Petit S. Osteogenesis imperfecta and aortic dissection. Am J Med Sci. 2008;336:70-2 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a group of autosomal dominant disorders affecting Type I collagen synthesis with the predominant clinical manifestations in skeleton, skin, eyes, and teeth...
  39. Christiansen H, Schwarze U, Pyott S, 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;86:389-98 pubmed publisher
    b>Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened life span...
  40. Kok D, Sakkers R, Pruijs H, Joosse P, Castelein R. Bone mineral density in developing children with osteogenesis imperfecta: a longitudinal study with 9 years of follow-up. Acta Orthop. 2013;84:431-6 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue caused by a defect in collagen type I synthesis...
  41. Swinnen F, De Leenheer E, Coucke P, Cremers C, Dhooge I. Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. Laryngoscope. 2009;119:1171-9 pubmed publisher
    To provide data on the outcome of stapes surgery in patients with osteogenesis imperfecta (OI)...
  42. van Dijk F, Nikkels P, Den Hollander N, Nesbitt I, van Rijn R, Cobben J, et al. Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings. Pediatr Dev Pathol. 2011;14:228-34 pubmed publisher
    ..Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation...
  43. Jones G, Moschidou D, Lay K, Abdulrazzak H, Vanleene M, Shefelbine S, et al. Upregulating CXCR4 in human fetal mesenchymal stem cells enhances engraftment and bone mechanics in a mouse model of osteogenesis imperfecta. Stem Cells Transl Med. 2012;1:70-8 pubmed publisher
    ..transplantation of human first trimester fetal blood mesenchymal stem cells (hfMSCs) in a mouse model of osteogenesis imperfecta (oim mice) led to a phenotypic improvement, with a marked decrease in fracture rate...
  44. Li H, Jiang X, Delaney J, Franceschetti T, Bilic Curcic I, Kalinovsky J, et al. Immature osteoblast lineage cells increase osteoclastogenesis in osteogenesis imperfecta murine. Am J Pathol. 2010;176:2405-13 pubmed publisher
    ..the role of impairment of osteoblastic differentiation as a mechanism underlying pathophysiology of the osteogenesis imperfecta (OI)...
  45. Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux F, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013;50:345-8 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that is usually due to dominant mutations in COL1A1 or COL1A2...
  46. Venturi G, Gandini A, Monti E, Dalle Carbonare L, Corradi M, Vincenzi M, et al. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. J Bone Miner Res. 2012;27:723-8 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a clinically heterogeneous heritable connective tissue disorder, characterized by low bone mass and reduced strength, which result in susceptibility to fracture and bone deformities...
  47. Bhadada S, Santosh R, Bhansali A, Upreti V, Dutta P. Osteogenesis imperfecta. J Assoc Physicians India. 2009;57:33-6 pubmed
    b>Osteogenesis imperfecta (OI) is a rare metabolic bone disorder characterized by increased bone fragility, low bone mass, recurrent fractures and numerous extra-osseus features...
  48. Bonita R, Cohen I, Berko B. Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature. Echocardiography. 2010;27:69-73 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a rare inheritable disorder of connective tissue. While musculoskeletal abnormalities are well known, cardiovascular involvement is rare...
  49. Chen X, Raggio C, Campagnola P. Second-harmonic generation circular dichroism studies of osteogenesis imperfecta. Opt Lett. 2012;37:3837-9 pubmed
    ..with circular dichroism (CD) to differentiate normal skin from that in the connective tissue disorder osteogenesis imperfecta (OI)...
  50. Rohrbach M, Giunta C. Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. Am J Med Genet C Semin Med Genet. 2012;160C:175-89 pubmed publisher
    b>Osteogenesis imperfecta (OI) or "brittle bone disease" is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen ..
  51. Pyott S, Tran T, Leistritz D, Pepin M, Mendelsohn N, Temme R, et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013;92:590-7 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the perinatal period to an increased lifetime risk of fracture...
  52. Gioia R, Panaroni C, Besio R, Palladini G, Merlini G, Giansanti V, et al. Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. Stem Cells. 2012;30:1465-76 pubmed publisher
    ..Classic osteogenesis imperfecta (OI) is a prototype for heritable bone dysplasias: it has dominant genetic transmission and is caused by ..
  53. Davis M, Kovacic B, Marini J, Shih A, Kozloff K. Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta. Bone. 2012;50:784-91 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a genetic disease of collagen or collagen-related proteins that adversely impacts bone mass and fracture resistance...
  54. Shapiro J, Germain Lee E. Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care. J Musculoskelet Neuronal Interact. 2012;12:24-7 pubmed
    ..disciplines and patients' families who are planning the transition to adult care for the adolescent with osteogenesis imperfecta (OI)...
  55. Semler O, Beccard R, Palmisano D, Demant A, Fricke O, Schoenau E, et al. Reshaping of vertebrae during treatment with neridronate or pamidronate in children with osteogenesis imperfecta. Horm Res Paediatr. 2011;76:321-7 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a hereditary disease causing increased bone fragility. Pamidronate (PAM), which has to be administered as a 3-day course according to the original protocol by Glorieux, is the most frequently used therapy...
  56. Panigrahi I, Das R, Sharda S, Marwaha R, Khandelwal N. Response to zolendronic acid in children with type III osteogenesis imperfecta. J Bone Miner Metab. 2010;28:451-5 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a common genetic disorder that manifests with intrauterine or pre- or postnatal fractures, blue sclera, and deafness...
  57. Folkestad L, Hald J, Hansen S, Gram J, Langdahl B, Abrahamsen B, et al. Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. J Bone Miner Res. 2012;27:1405-12 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a hereditary disorder characterized by decreased biosynthesis or impaired morphology of type I collagen that leads to decreased bone mass and increased bone fragility...
  58. Homan E, Rauch F, Grafe I, Lietman C, Doll J, Dawson B, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011;26:2798-803 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility...
  59. Koerber F, Semler O, Demant A, Koerber S, Schönau E, Lackner K. [Standardized x-ray reports of the spine in osteogenesis imperfecta]. Rofo. 2011;183:462-9 pubmed publisher
    In this study we present a standard for radiological reports in patients with osteogenesis imperfecta (OI)...
  60. Pazzaglia U, Congiu T, Brunelli P, Magnano L, Benetti A. The long bone deformity of osteogenesis imperfecta III: analysis of structural changes carried out with scanning electron microscopic morphometry. Calcif Tissue Int. 2013;93:453-61 pubmed publisher
    ..mid-diaphyseal osteotomies carried out to correct the femoral and/or tibial native deformity in type III osteogenesis imperfecta (OI III) were used to study the remodeling patterns and lamellar organization at the level of the major ..
  61. Marini J, Blissett A. New genes in bone development: what's new in osteogenesis imperfecta. J Clin Endocrinol Metab. 2013;98:3095-103 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable bone dysplasia characterized by bone fragility and deformity and growth deficiency...
  62. Drogemuller C, Becker D, Brunner A, Haase B, Kircher P, Seeliger F, et al. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet. 2009;5:e1000579 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth...
  63. Rauch F, Lalic L, Roughley P, Glorieux F. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 2010;18:642-7 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heritable disorder with bone fragility that is often associated with short stature, tooth abnormalities (dentinogenesis imperfecta), and blue sclera...
  64. Wekre L, Frøslie K, Haugen L, Falch J. A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil. 2010;32:579-87 pubmed publisher
    To describe demographical variables, and to study functional ability to perform activities of daily life in adults with osteogenesis imperfecta (OI).
  65. Solopova A, Wisser J, Huisman T. Osteogenesis imperfecta type II: fetal magnetic resonance imaging findings. Fetal Diagn Ther. 2008;24:361-7 pubmed publisher
    We describe the prenatal magnetic resonance imaging (MRI) findings in a 25-week-old fetus with proven osteogenesis imperfecta type II...
  66. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, et al. A mutation in the 5'-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;91:349-57 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder associated with bone fragility and susceptibility to fractures after minimal trauma...
  67. Garnero P, Schott A, Prockop D, Chevrel G. Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: associations with collagen gene mutations. Bone. 2009;44:461-6 pubmed publisher
    Increased bone fragility in osteogenesis imperfecta (OI) is not totally accounted for by decreased bone mineral density (BMD), and alterations of type I collagen (Col I) are believed to play a role...
  68. Cabral W, Barnes A, Adeyemo A, Cushing K, Chitayat D, Porter F, et al. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med. 2012;14:543-51 pubmed publisher
    Deficiency of prolyl 3-hydroxylase 1, encoded by LEPRE1, causes recessive osteogenesis imperfecta (OI). We previously identified a LEPRE1 mutation exclusively in African Americans and contemporary West Africans...
  69. Cho T, Lee K, Lee S, Song S, Kim K, Jeon D, et al. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91:343-8 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility...
  70. Cheung M, Glorieux F, Rauch F. Large osteoclasts in pediatric osteogenesis imperfecta patients receiving intravenous pamidronate. J Bone Miner Res. 2009;24:669-74 pubmed publisher
    Intravenous pamidronate is widely used to treat children with moderate to severe osteogenesis imperfecta (OI)...
  71. Sainz M, Garcia Valdecasas J, Ballesteros J. [Surgical options for hearing loss in patients with osteogenesis imperfecta]. Acta Otorrinolaringol Esp. 2009;60:126-30 pubmed
    ..study is to present the severe, extensive lesions in the temporal bone appearing in the mildest forms of osteogenesis imperfecta, correlate these with audiometric results and discuss the possible surgical treatments available...
  72. Sinder B, Eddy M, Ominsky M, Caird M, Marini J, Kozloff K. Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta. J Bone Miner Res. 2013;28:73-80 pubmed publisher
    b>Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by osteopenia and easy susceptibility to fracture. Symptoms are most prominent during childhood...
  73. Shapiro J, Thompson C, Wu Y, Nunes M, Gillen C. Bone mineral density and fracture rate in response to intravenous and oral bisphosphonates in adult osteogenesis imperfecta. Calcif Tissue Int. 2010;87:120-9 pubmed publisher
    ..of bisphosphonate treatment on bone mineral density (BMD) and fracture rates was assessed in adults with osteogenesis imperfecta (OI)...
  74. Vlad C, Georgescu I, Gavriliu T, Hodorogea D, El Nayef T, Dan D. Burnei's procedure in the treatment of long bone pseudarthrosis in patients having osteogenesis imperfecta or congenital pseudarthrosis of tibia - preliminary report. J Med Life. 2012;5:215-21 pubmed
    given the recalcitrant behaviour of pseudarthrosis in osteogenesis imperfecta (OI) and congenital pseudarthrosis of the tibia (CPT), there is no ideal solution to treat such challenging deformities...
  75. Bargman R, Posham R, Boskey A, DiCarlo E, Raggio C, Pleshko N. Comparable outcomes in fracture reduction and bone properties with RANKL inhibition and alendronate treatment in a mouse model of osteogenesis imperfecta. Osteoporos Int. 2012;23:1141-50 pubmed publisher
    ..with bisphosphonate treatment (alendronate, ALN) from infancy through early adulthood in a mouse model of osteogenesis imperfecta. Both ALN and RANK-Fc decreased fracture incidence to the same degree with increases in metaphyseal bone ..
  76. van Dijk F, Cobben J, Maugeri A, Nikkels P, van Rijn R, Pals G. [Osteogenesis imperfecta: clinical and genetic heterogeneity]. Ned Tijdschr Geneeskd. 2012;156:A4585 pubmed
    b>Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients this is a consequence of diminished or abnormal production of collagen type I...
  77. Deyle D, Khan I, Ren G, Wang P, Kho J, Schwarze U, et al. Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs. Mol Ther. 2012;20:204-13 pubmed publisher
    b>Osteogenesis imperfecta (OI) is caused by dominant mutations in the type I collagen genes...
  78. van Dijk F, Pals G, van Rijn R, Nikkels P, Cobben J. Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet. 2010;53:1-5 pubmed publisher
    In 1979 Sillence proposed a classification of Osteogenesis Imperfecta (OI) in OI types I, II, III and IV...
  79. Chang W, Barnes A, Cabral W, Bodurtha J, Marini J. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet. 2010;19:223-34 pubmed publisher
    ..3-hydroxylase 1 (P3H1/LEPRE1) cause types VII and VIII OI, respectively, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone dysplasia and overmodification of the type I collagen helical region...
  80. Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, et al. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 2009;46:233-41 pubmed publisher
    Recessive forms of osteogenesis imperfecta (OI) may be caused by mutations in LEPRE1, encoding prolyl 3-hydroxylase-1 (P3H1) or in CRTAP, encoding cartilage associated protein...
  81. Aström E, Magnusson P, Eksborg S, Soderhall S. Biochemical bone markers in the assessment and pamidronate treatment of children and adolescents with osteogenesis imperfecta. Acta Paediatr. 2010;99:1834-40 pubmed publisher
    To assess the role of biochemical bone markers in classification of children with osteogenesis imperfecta (OI), their possible association with vertebral compression fractures in milder forms of OI and their role in monitoring of ..