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Review

A multidisciplinary approach to understanding skeletal dysplasias

, , &
Pages 731-743 | Published online: 10 Jan 2014

References

  • Warman ML, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am. J. Med. Genet. A155, 943–968 (2011).
  • Stoll C, Dott B, Roth MP, Alembik Y. Birth prevalence rates of skeletal dysplasias. Clin. Genet.35(2), 88–92 (1989).
  • Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science272(5261), 548–551 (1996).
  • Shiang R, Thompson LM, Zhu YZ et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell78(2), 335–342 (1994).
  • DeLise AM, Fischer L, Tuan RS. Cellular interactions and signaling in cartilage development. Osteoarthritis Cartilage8(5), 309–334 (2000).
  • Tickle C. Molecular basis of vertebrate limb patterning. Am. J. Med. Genet.112(3), 250–255 (2002).
  • Yoon BS, Lyons KM. Multiple functions of BMPs in chondrogenesis. J. Cell. Biochem.93(1), 93–103 (2004).
  • Shinomura T, Kimata K, Oike Y, Maeda N, Yano S, Suzuki S. Appearance of distinct types of proteoglycan in a well-defined temporal and spatial pattern during early cartilage formation in the chick limb. Dev. Biol.103(1), 211–220 (1984).
  • Ng LJ, Wheatley S, Muscat GE et al. SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse. Dev. Biol.183(1), 108–121 (1997).
  • Ballock RT, O’Keefe RJ. Physiology and pathophysiology of the growth plate. Birth Defects Res. C. Embryo Today69(2), 123–143 (2003).
  • Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science273(5275), 613–622 (1996).
  • Klopocki E, Hennig BP, Dathe K et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am. J. Hum. Genet.86, 434–439 (2010).
  • Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J. Med. Genet.40(1), 42–44 (2003).
  • Minina E, Kreschel C, Naski MC, Ornitz DM, Vortkamp A. Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev. Cell3(3), 439–449 (2002).
  • Enomoto H, Enomoto-Iwamoto M, Iwamoto M et al. CBFA1 is a positive regulatory factor in chondrocyte maturation. J. Biol. Chem.275(12), 8695–8702 (2000).
  • Mundlos S, Otto F, Mundlos C et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell89(5), 773–779 (1997).
  • Colnot C, Lu C, Hu D, Helms JA. Distinguishing the contributions of the perichondrium, cartilage, and vascular endothelium to skeletal development. Dev. Biol.269(1), 55–69 (2004).
  • Gerber HP, Vu TH, Ryan AM, Kowalski J, Werb Z, Ferrara N. VEGF couples hypertrophic cartilage remodeling, ossification and angiogenesis during endochondral bone formation. Nat. Med.5(6), 623–628 (1999).
  • Pope FM, Nicholls AC, McPheat J, Talmud P, Owen R. Collagen genes and proteins in osteogenesis imperfecta. J. Med. Genet.22(6), 466–478 (1985).
  • Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am. J. Hum. Genet.77(3), 484–490 (2005).
  • Arikawa-Hirasawa E, Wilcox WR, Le AH et al. Dyssegmental dysplasia, Silverman–Handmaker type, is caused by functional null mutations of the perlecan gene. Nat. Genet.27(4), 431–434 (2001).
  • Nicole S, Davoine CS, Topaloglu H et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz–Jampel syndrome (chondrodystrophic myotonia). Nat. Genet.26(4), 480–483 (2000).
  • Superti-Furga A, Bonafe L, Rimoin DL. Molecular–pathogenetic classification of genetic disorders of the skeleton. Am. J. Med. Genet.106(4), 282–293 (2001).
  • Trotter TL, Hall JG. Health supervision for children with achondroplasia. Pediatrics116(3), 771–783 (2005).
  • Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet. Med.11(2), 127–133 (2009).
  • Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet370(9582), 162–172 (2007).
  • Ahmed SF, Farquharson C. The effect of GH and IGF1 on linear growth and skeletal development and their modulation by SOCS proteins. J. Endocrinol.206(3), 249–259 (2010).
  • Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia – genetic short limbed dwarfism. Curr. Drug Targets4(5), 353–365 (2003).
  • Qing J, Du X, Chen Y et al. Antibody-based targeting of FGFR3 in bladder carcinoma and t(4;14)-positive multiple myeloma in mice. J. Clin. Invest.119(5), 1216–1229 (2009).
  • Yasoda A, Komatsu Y, Chusho H et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat. Med.10(1), 80–86 (2004).
  • Bartels CF, Bukulmez H, Padayatti P et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am. J. Hum. Genet.75(1), 27–34 (2004).
  • Fujii T, Komatsu Y, Yasoda A et al. Circulating C-type natriuretic peptide (CNP) rescues chondrodysplastic CNP knockout mice from their impaired skeletal growth and early death. Endocrinology151(9), 4381–4388 (2010).
  • Amir LR, Everts V, Bronckers AL. Bone regeneration during distraction osteogenesis. Odontology97(2), 63–75 (2009).
  • Tare RS, Kanczler J, Aarvold A, Jones AM, Dunlop DG, Oreffo RO. Skeletal stem cells and bone regeneration: translational strategies from bench to clinic. Proc. Inst. Mech. Eng. H.224(12), 1455–1470 (2010).

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