Therapy of endocrine disease: Treatment of osteogenesis imperfecta in adults

European Journal of Endocrinology

Volumn 171, Issue 2, 2014, Pages

  Lindahl, Katarina ^a   Langdahl, Bente ^b   Ljunggren, Östen ^a   Kindmark, Andreas ^a,c  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c SCIENCE FOR LIFE LABORATORY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALENDRONIC ACID; CALCIUM; DENOSUMAB; NERIDRONIC ACID; PAMIDRONIC ACID; PARATHYROID HORMONE[1-34]; PLACEBO; RISEDRONIC ACID; SMALL INTERFERING RNA; VIRUS VECTOR; VITAMIN D; ZOLEDRONIC ACID; BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1;

ALLELE; BONE DENSITY; BONE MARROW TRANSPLANTATION; BONE PAIN; BONE TURNOVER; DISEASE CLASSIFICATION; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; FEMUR FRACTURE; GENE MUTATION; GENE THERAPY; HIP; HUMAN; LUMBAR SPINE; OSTEOGENESIS IMPERFECTA; PATHOGENESIS; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; REVIEW; RISK REDUCTION; STEM CELL TRANSPLANTATION; VERTEBRA; VITAMIN SUPPLEMENTATION; ADULT; ANIMAL; CHILD; FRACTURE; GENETICS;

ADULT; ANIMALS; BONE DENSITY; CHILD; COLLAGEN TYPE I; DIPHOSPHONATES; FRACTURES, BONE; GENETIC THERAPY; HUMANS; OSTEOGENESIS IMPERFECTA; TERIPARATIDE;

EID: 84905254581     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-14-0017     Document Type: Review

References (109)

1. Andersen PE Jr & Hauge M. Osteogenesis imperfecta: a genetic, radiological, and epidemiological study. Clinical Genetics 1989 36 250-255. (doi:10.1111/j.1399-0004.1989.tb03198.x)
2. Kuurila K, Kaitila I, Johansson R & Grenman R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Annals of Otology, Rhinology, and Laryngology 2002 111 939-946. (Pubitemid 35155071)
3. Orioli IM, Castilla EE & Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. Journal of Medical Genetics 1986 23 328-332. (doi:10.1136/jmg.23.4.328)
4. Stoll C, Dott B, RothMP & Alembik Y. Birth prevalence rates of skeletal dysplasias. Clinical Genetics 1989 35 88-92. (doi:10.1111/j.1399-0004. 1989.tb02912.x)
5. Sykes B, Ogilvie D, Wordsworth P, Anderson J & Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1986 2 69-72. (doi:10.1016/S0140-6736(86)91609-0)
6. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006 127 291-304. (doi:10.1016/j.cell.2006.08.039)
7. Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. New England Journal of Medicine 2006 355 2757-2764. (doi:10.1056/NEJMoa063804)
8. Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nature Genetics 2007 39 359-365. (doi:10.1038/ng1968)
9. Barnes AM, Carter EM, Cabral WA, Weis M, Chang W, Makareeva E, Leikin S, Rotimi CN, Eyre DR, Raggio CL et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. New England Journal of Medicine 2010 362 521-528. (doi:10.1056/NEJMoa0907705)
10. van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM et al. PPIB mutations cause severe osteogenesis imperfecta. American Journal of Human Genetics 2009 85 521-527. (doi:10.1016/j.ajhg.2009.09.001)
11. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Human Mutation 2008 29 1435-1442. (doi:10.1002/humu.20799)
12. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. American Journal of Human Genetics 2010 86 551-559. (doi:10.1016/j.ajhg.2010.02.022)
13. Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. Journal of Bone and Mineral Research 2011 26 666-672. (doi:10.1002/jbmr.250)
14. Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, Pepin MG, Weis MA, Eyre DR & Byers PH. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. American Journal of Human Genetics 2010 86 389-398. (doi:10.1016/j.ajhg.2010.01.034)
15. Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomalrecessive osteogenesis imperfecta. American Journal of Human Genetics 2011 88 362-371. (doi:10.1016/j.ajhg.2011.01.015)
16. Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. Journal of Bone and Mineral Research 2011 26 2798-2803. (doi:10.1002/jbmr.487)
17. Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, Martinez-Glez V, Elhossini R, Amr K, Vilaboa N et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. American Journal of Human Genetics 2010 87 110-114. (doi:10.1016/j.ajhg.2010.05.016)
18. Martinez-Glez V, Valencia M, Caparros-Martin JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Human Mutation 2012 33 343-350. (doi:10.1002/humu. 21647)
19. Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. New England Journal of Medicine 2013 368 1809-1816. (doi:10.1056/NEJMoa1215458)
20. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH et al. A single recurrent mutation in the 5′ -UTR of IFITM5 causes osteogenesis imperfecta type V. American Journal of Human Genetics 2012 91 343-348. (doi:10.1016/j.ajhg.2012.06.005)
21. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. Journal of Bone and Mineral Research 2013 28 1523-1530. (doi:10.1002/jbmr.1891)
22. Shaheen R, Alazami AM, Alshammari MJ, Faqeih E, Alhashmi N, Mousa N, Alsinani A, Ansari S, Alzahrani F, Al-Owain M et al. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. Journal of Medical Genetics 2012 49 630-635. (doi:10.1136/jmedgenet-2012-101142)
23. Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, Shelef I, Langer Y & Birk OS. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Human Mutation 2013 34 582-586.
24. van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ & Lichtenbelt KD. PLS3 mutations in X-linked osteoporosis with fractures. New England Journal of Medicine 2013 369 1529-1536. (doi:10.1056/NEJMoa1308223)
25. Symoens S, Malfait F, S DH, Callewaert B, Dheedene A, Steyaert W, Bachinger HP, De Paepe A, Kayserili H & Coucke PJ. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet Journal of Rare Diseases 2013 8 154. (doi:10.1186/1750-1172-8- 154)
26. Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, Temme RT, Fernandez BA, Elsayed SM, Elsobky E, Verma I et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. American Journal of Human Genetics 2013 92 590-597. (doi:10.1016/j.ajhg.2013. 02.009)
27. Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K et al . Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Human Molecular Genetics 2011 20 1595-1609. (doi:10.1093/hmg/ddr037)
28. Marini JC, Cabral WA & Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell and Tissue Research 2010 339 59-70. (doi:10.1007/s00441-009-0872-0)
29. Marini JC & Blissett AR. New genes in bone development: what's new in osteogenesis imperfecta. Journal of Clinical Endocrinology and Metabolism 2013 98 3095-3103. (doi:10.1210/jc.2013-1505)
30. Byers PH & Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annual Review of Genetics 2012 46 475-497. (doi:10.1146/annurev- genet-110711-155608)
31. Huang RP, Ambrose CG, Sullivan E & Haynes RJ. Functional significance of bone density measurements in children with osteogenesis imperfecta. Journal of Bone and Joint Surgery. American Volume 2006 88 1324-1330. (doi:10.2106/JBJS.E.00333)
32. Sillence DO. Osteogenesis imperfecta nosology and genetics. Annals of the New York Academy of Sciences 1988 543 1-15. (doi:10.1111/j.1749-6632.1988. tb55311.x)
33. Sillence DO, Rimoin DL & Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Original Article Series 1979 15 113-129. (Pubitemid 10183910)
34. Sillence DO, Senn A & Danks DM. Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics 1979 16 101-116. (doi:10.1136/jmg.16.2. 101)
35. Sillence DO & Rimoin DL. Classification of osteogenesis imperfect. Lancet 1978 1 1041-1042. (doi:10.1016/S0140-6736(78)90763-8)
36. McAllion SJ & Paterson CR. Causes of death in osteogenesis imperfecta. Journal of Clinical Pathology 1996 49 627-630. (doi:10.1136/jcp.49. 8.627)
37. Thibeault DW, Pettett G, Mabry SM & Rezaiekhaligh MM. Osteogenesis imperfecta type IIA and pulmonary hypoplasia with normal alveolar development. Pediatric Pulmonology 1995 20 301-306. (doi:10.1002/ppul.1950200508)
38. Schwarze U, Hata R,McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE & Byers PH. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. American Journal of Human Genetics 2004 74 917-930. (doi:10.1086/420794)
39. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Human Mutation 2007 28 209-221. (doi:10.1002/humu.20429)
40. Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S & Marini JC. Mutations near amino end of α1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. Journal of Biological Chemistry 2005 280 19259-19269. (doi:10.1074/jbc.M414698200)
41. Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S & Marini JC. Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Human Mutation 2007 28 396-405. (doi:10.1002/humu.20456)
42. Makareeva E, Cabral WA, Marini JC & Leikin S. Molecular mechanism of α1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. Journal of Biological Chemistry 2006 281 6463-6470. (doi:10.1074/jbc.M511830200)
43. Pace JM, Wiese M, Drenguis AS, Kuznetsova N, Leikin S, Schwarze U, Chen D, Mooney SH, Unger S & Byers PH. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. Journal of Biological Chemistry 2008 283 16061-16067. (doi:10.1074/jbc.M801982200)
44. Forlino A, Cabral WA, Barnes AM & Marini JC. New perspectives on osteogenesis imperfecta. Nature Reviews. Endocrinology 2011 7 540-557. (doi:10.1038/nrendo.2011.81)
45. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F 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. American Journal of Human Genetics 2012 91 349-357. (doi:10.1016/j.ajhg.2012.06.011)
46. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Korkko J, Prockop DJ, De Paepe A et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Human Mutation 2007 28 209-221. (doi:10.1002/humu.20429)
47. Daley E, Streeten EA, Sorkin JD, Kuznetsova N, Shapses SA, Carleton SM, Shuldiner AR, Marini JC, Phillips CL, Goldstein SA et al. Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. Journal of Bone and Mineral Research 2010 25 247-261. (doi:10.1359/jbmr.090720)
48. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J & Glorieux FH. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.K14C>T mutation in all patients. Journal of Medical Genetics 2013 50 21-24. (doi:10.1136/jmedgenet-2012-101307)
49. Carmel AS, Shieh A, Bang H & Bockman RS. The 25(OH)D level needed to maintain a favorable bisphosphonate response is ≥33 ng/ml. Osteoporosis International 2012 23 2479-2487. (doi:10.1007/s00198-011-1868-7)
50. Peris P, Martinez-Ferrer A, Monegal A, Martinez de Osaba MJ, Muxi A & Guanabens N. 25 Hydroxyvitamin D serum levels influence adequate response to bisphosphonate treatment in postmenopausal osteoporosis. Bone 2012 51 54-58. (doi:10.1016/j.bone.2012.03.026)
51. Horwitz EM, Gordon PL, Koo WK, Marx JC, Neel MD, McNall RY, Muul L & Hofmann T. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone. PNAS 2002 99 8932-8937. (doi:10.1073/pnas.132252399)
52. Horwitz EM, Prockop DJ, Gordon PL, Koo WW, Fitzpatrick LA, Neel MD, McCarville ME, Orchard PJ, Pyeritz RE & Brenner MK. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001 97 1227-1231. (doi:10.1182/blood.V97.5.1227)
53. Le Blanc K, Gotherstrom C, Ringden O, Hassan M, McMahon R, Horwitz E, Anneren G, Axelsson O, Nunn J, Ewald U et al. Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation 2005 79 1607-1614. (doi:10.1097/01.TP. 0000159029.48678.93)
54. Chamberlain JR, Deyle DR, Schwarze U, Wang P, Hirata RK, Li Y, Byers PH & Russell DW. Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta. Molecular Therapy 2008 16 187-193. (doi:10.1038/sj.mt.6300339)
55. Chamberlain JR, Schwarze U, Wang PR, Hirata RK, Hankenson KD, Pace JM, Underwood RA, Song KM, Sussman M, Byers PH et al . Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science 2004 303 1198-1201. (doi:10.1126/science.1088757)
56. Dawson PA & Marini JC. Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts. NucleicAcids Research 2000 28 4013-4020. (doi:10.1093/nar/28.20.4013)
57. Millington-Ward S, McMahon HP & Farrar GJ. Emerging therapeutic approaches for osteogenesis imperfecta. Trends in Molecular Medicine 2005 11 299-305. (doi:10.1016/j.molmed.2005.04.006)
58. Rousseau J, Gioia R, Layrolle P, Lieubeau B, Heymann D, Rossi A, Marini JC, TrichetV&Forlino A. Allele-specificCol1a1 silencing reduces mutant collagen in fibroblasts fromBrtlmouse, a model for classical osteogenesis imperfecta. European Journal of Human Genetics 2013 22 667-674. (doi:10.1038/ejhg.2013.198)
59. Alcausin MB, Briody J, Pacey V, Ault J, McQuade M, Bridge C, Engelbert RH, Sillence DO & Munns CF. Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. Hormone Research in Paediatrics 2013 79 333-340. (doi:10.1159/000351374)
60. Astrom E, Jorulf H & Soderhall S. Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta. Archives of Disease in Childhood 2007 92 332-338. (doi:10.1136/adc.2006.096552)
61. Munns CF, Rauch F, Travers R & Glorieux FH. Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. Journal of Bone and Mineral Research 2005 20 1235-1243. (doi:10.1359/JBMR.050213)
62. Castillo H, Samson-Fang L, American Academy for Cerebral P & Developmental Medicine Treatment Outcomes Committee Review P. Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review. Developmental Medicine and Child Neurology 2009 51 17-29. (doi:10.1111/j.1469-8749.2008.03222.x)
63. Phillipi CA, Remmington T & Steiner RD. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database of Systematic Reviews 2008 CD005088. (doi:10.1002/14651858.CD005088.pub2)
64. Camacho NP, Raggio CL, Doty SB, Root L, Zraick V, Ilg WA, Toledano TR & Boskey AL. A controlled study of the effects of alendronate in a growing mouse model of osteogenesis imperfecta. Calcified Tissue International 2001 69 94-101. (doi:10.1007/s002230010045)
65. Bachrach LK & Ward LM. Clinical review 1: Bisphosphonate use in childhood osteoporosis. Journal of Clinical Endocrinology and Metabolism 2009 94 400-409. (doi:10.1210/jc.2008-1531)
66. Land C, Rauch F, Munns CF, Sahebjam S & Glorieux FH. Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment. Bone 2006 39 901-906. (doi:10.1016/j.bone. 2006.04.004)
67. Rauch F, Plotkin H, Zeitlin L & Glorieux FH. Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy. Journal of Bone and Mineral Research 2003 18 610-614. (doi:10.1359/jbmr.2003.18.4.610)
68. Letocha AD, Cintas HL, Troendle JF, Reynolds JC, Cann CE, Chernoff EJ, Hill SC, Gerber LH & Marini JC. Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. Journal of Bone and Mineral Research 2005 20 977-986. (doi:10.1359/JBMR.050109)
69. Bishop N, Adami S, Ahmed SF, Anton J, Arundel P, Burren CP, Devogelaer JP, Hangartner T, Hosszu E, Lane JM et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet 2013 382 1424-1432. (doi:10.1016/S0140-6736(13)61091-0)
70. Chahine C, Cheung MS, Head TW, Schwartz S, Glorieux FH & Rauch F. Tooth extraction socket healing in pediatric patients treated with intravenous pamidronate. Journal of Pediatrics 2008 153 719-720. (doi:10.1016/j.jpeds.2008. 05.003)
71. Malmgren B, Astrom E & Soderhall S. No osteonecrosis in jaws of young patients with osteogenesis imperfecta treated with bisphosphonates. Journal of Oral Pathology & Medicine 2008 37 196-200. (doi:10.1111/j.1600-0714.2007. 00607.x)
72. Khosla S, Bilezikian JP, DempsterDW, Lewiecki EM, Miller PD, NeerRM, Recker RR, Shane E, Shoback D & Potts JT. Benefits and risks of bisphosphonate therapyfor osteoporosis. Journal of ClinicalEndocrinology and Metabolism 2012 97 2272-2282. (doi:10.1210/jc.2012-1027)
73. Nicolaou N, Agrawal Y, Padman M, Fernandes JA & Bell MJ. Changing pattern of femoral fractures in osteogenesis imperfecta with prolonged use of bisphosphonates. Journal of Children's Orthopaedics 2012 6 21-27. (doi:10.1007/s11832-011-0380-0)
74. Zacharin M & Bateman J. Pamidronate treatment of osteogenesis imperfecta - lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. Journal of Pediatric Endocrinology & Metabolism 2002 15 163-174. (doi:10.1515/JPEM. 2002.15.2.163)
75. Plotkin H, Rauch F, Bishop NJ, Montpetit K, Ruck-Gibis J, Travers R & Glorieux FH. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. Journal of Clinical Endocrinology and Metabolism 2000 85 1846-1850. (Pubitemid 32269287)
76. Shapiro JR, Thompson CB, Wu Y, Nunes M & Gillen C. Bone mineral density and fracture rate in response to intravenous and oral bisphosphonates in adult osteogenesis imperfecta. Calcified Tissue International 2010 87 120-129. (doi:10.1007/s00223-010-9383-y)
77. Adami S, Gatti D, Colapietro F, Fracassi E, Braga V, Rossini M & Tato L. Intravenous neridronate in adults with osteogenesis imperfecta. Journal of Bone and Mineral Research 2003 18 126-130. (doi:10.1359/jbmr.2003.18.1.126)
78. Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, Garnero P, Arlot M, Raynal C & Meunier PJ. Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. Journal of Bone and Mineral Research 2006 21 300-306. (doi:10.1359/JBMR.051015)
79. Pavon de Paz I, Iglesias Bolanos P, Duran Martinez M, Olivar Roldan J, Guijarro De Armas G & Parra Garcia JI. Effects of zoledronic acid in adults with osteogenesis imperfecta. Endocrinología y Nutriciíon 2010 57 245-250. (doi:10.1016/j.endonu.2010.03.017)
80. O'Sullivan ES, van der Kamp S, Kilbane M & McKenna M. Osteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort. Irish Journal of Medical Science 2013 183 225-230. (doi:10.1007/s11845-013-0995-x)
81. Bradbury LA, Barlow S, Geoghegan F, Hannon RA, Stuckey SL,Wass JA, Russell RG, Brown MA & Duncan EL. Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. Osteoporosis International 2012 23 285-294. (doi:10.1007/s00198-011-1658-2)
82. Neer RM, Arnaud CD, Zanchetta JR, Prince R, Gaich GA, Reginster JY, Hodsman AB, Eriksen EF, Ish-Shalom S, Genant HK et al. Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. New England Journal of Medicine 2001 344 1434-1441. (doi:10.1056/NEJM200105103441904)
83. Gatti D, Rossini M, Viapiana O, Povino MR, Liuzza S, Fracassi E, Idolazzi L & Adami S. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcified Tissue International 2013 93 448-452. (doi:10.1007/s00223-013-9770-2)
84. Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC & Lee B. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. Journal of Clinical Investigation 2014 124 491-498. (doi:10.1172/JCI71101)
85. Otsu M, Sugamura K & Candotti F. In vivo competitive studies between normal and common gamma chain-defective bone marrow cells: implications for gene therapy. Human Gene Therapy 2000 11 2051-2056. (doi:10.1089/10430340050143462)
86. Roberts C, Kean L, Archer D, Balkan C & Hsu LL. Murine and math models for the level of stable mixed chimerism to cure b-thalassemia by nonmyeloablative bone marrow transplantation. Annals of the New York Academy of Sciences 2005 1054 423-428. (doi:10.1196/annals.1345.061)
87. Yamanaka S. Induced pluripotent stem cells: past, present, and future. Cell Stem Cell 2012 10 678-684. (doi:10.1016/j.stem.2012.05.005)
88. Deyle DR, Khan IF, Ren G, Wang PR, Kho J, Schwarze U & Russell DW. Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs. Molecular Therapy 2012 20 204-213. (doi:10.1038/mt.2011.209)
89. Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB & McLean WH. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. Journal of Investigative Dermatology 2011 131 2079-2086. (doi:10.1038/jid.2011.169)
90. Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, Skotte N, Hung G, Bennett CF, Freier SM & Hayden MR. Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene/allele-specific silencing of mutant huntingtin. Molecular Therapy 2011 19 2178-2185. (doi:10.1038/mt.2011.201)
91. de Ynigo-Mojado L, Martin-Ruiz I & Sutherland JD. Efficient allelespecific targeting of LRRK2 R1441 mutations mediated by RNAi. PLoS ONE 2011 6 e21352. (doi:10.1371/journal.pone.0021352)
92. Dykxhoorn DM, Schlehuber LD, London IM & Lieberman J. Determinants of specific RNA interference-mediated silencing of human b-globin alleles differing by a single nucleotide polymorphism. PNAS 2006 103 5953-5958. (doi:10.1073/pnas.0601309103)
93. Hickerson RP, Smith FJ, Reeves RE, Contag CH, Leake D, Leachman SA, Milstone LM, McLean WH & Kaspar RL. Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. Journal of Investigative Dermatology 2008 128 594-605. (Pubitemid 351252662)
94. Lombardi MS, Jaspers L, Spronkmans C, Gellera C, Taroni F, Di Maria E, Donato SD & Kaemmerer WF. A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. Experimental Neurology 2009 217 312-319. (doi:10.1016/j.expneurol.2009.03.004)
95. Muller GA, Hansen U, Xu Z, Griswold B, Talan MI, McDonnell NB & Briest W. Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. FASEB Journal 2012 26 668-677. (doi:10.1096/fj.11-182162)
96. Pfister EL, Kennington L, Straubhaar J, Wagh S, Liu W, DiFiglia M, Landwehrmeyer B, Vonsattel JP, Zamore PD & Aronin N. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Current Biology 2009 19 774-778. (doi:10.1016/j.cub.2009.03.030)
97. Schwarz DS, Ding H, Kennington L, Moore JT, Schelter J, Burchard J, Linsley PS, Aronin N, Xu Z & Zamore PD. Designing siRNA that distinguish between genes that differ by a single nucleotide. PLoS Genetics 2006 2 e140. (doi:10.1371/journal.pgen.0020140)
98. Millington-Ward S,McMahon HP, Allen D, Tuohy G, Kiang AS, Palfi A, Kenna PF, Humphries P & Farrar GJ. RNAi of COL1A1 in mesenchymal progenitor cells. European Journal of Human Genetics 2004 12 864-866. (doi:10.1038/sj.ejhg. 5201230)
99. McNamara JO II, Andrechek ER, Wang Y, Rempel RE, Gilboa E, Sullenger BA & Giangrande PH. Cell type-specific delivery of siRNAs with aptamer-siRNA chimeras. Nature Biotechnology 2006 24 1005-1015. (doi:10.1038/nbt1223)
100. Ashihara E, Kawata E & Maekawa T. Future prospect of RNA interference for cancer therapies. Current Drug Targets 2010 11 345-360. (doi:10.2174/138945010790711897)
101. Dalgleish R. The human collagen mutation database. Nucleic Acids Research 1998 26 253-255.
102. Lindahl K, Rubin CJ, Kindmark A & Ljunggren O. Allele dependent silencing of COL1A2 using small interfering RNAs. International Journal of Medical Sciences 2008 5 361-365. (doi:10.7150/ijms.5.361)
103. Lindahl K, Kindmark A, Laxman N, Astrom E, Rubin CJ & Ljunggren O. Allele dependent silencing of collagen type I using small interfering RNAs targeting 3′ UTR Indels - a novel therapeutic approach in osteogenesis imperfecta. International Journal of Medical Sciences 2013 10 1333-1343. (doi:10.7150/ijms.5774)
104. O'Reilly M, Shipp A, Rosenthal E, Jambou R, Shih T, Montgomery M, Gargiulo L, Patterson A & Corrigan-Curay J. NIH oversight of human gene transfer research involving retroviral, lentiviral, and adeno-associated virus vectors and the role of the NIH recombinant DNA advisory committee. Methods in Enzymology 2012 507 313-335.
105. Handel EM & Cathomen T. Zinc-finger nuclease based genome surgery: it's all about specificity. Current Gene Therapy 2011 11 28-37. (doi:10.2174/156652311794520120)
106. Bedell VM, Wang Y, Campbell JM, Poshusta TL, Starker CG, Krug RG II, TanW, Penheiter SG, Ma AC, Leung AY et al. In vivo genome editing using a high-efficiency TALEN system. Nature 2012 491 114-118. (doi:10.1038/nature11537)
107. Antoniazzi F, Monti E, Venturi G, Franceschi R, Doro F, Gatti D, Zamboni G & Tato L. GH in combination with bisphosphonate treatment in osteogenesis imperfecta. European Journal of Endocrinology 2010 163 479-487. (doi:10.1530/EJE-10-0208)
108. Semler O, Netzer C, Hoyer-Kuhn H, Becker J, Eysel P & Schoenau E. First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. Journal of Musculoskeletal & Neuronal Interactions 2012 12 183-188.
109. 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. Journal of Bone and Mineral Research 2012 28 73-80. (doi:10.1002/jbmr.1717)