Display options
Cite
Yannakoudakis BZ, Liu KJ. Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes. Rare Dis. 2013;1:e27109doi: 10.4161/rdis.27109.
Yannakoudakis, B. Z., & Liu, K. J. (2013). Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes. Rare diseases (Austin, Tex.), 1e27109. https://doi.org/10.4161/rdis.27109
Yannakoudakis, Basil Z, and Liu, Karen J. "Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes." Rare diseases (Austin, Tex.) vol. 1 (2013): e27109. doi: https://doi.org/10.4161/rdis.27109
Yannakoudakis BZ, Liu KJ. Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes. Rare Dis. 2013 Nov 11;1:e27109. doi: 10.4161/rdis.27109. eCollection 2013. PMID: 25003013; PMCID: PMC3932950.
Copy Download .nbib Format: NLM
Share it on

Rare Dis. 2013 Nov 11;1:e27109. doi: 10.4161/rdis.27109. eCollection 2013.

Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes.

Rare diseases (Austin, Tex.)

Basil Z Yannakoudakis, Karen J Liu

Affiliations

  1. Department of Craniofacial Development and Stem Cell Biology; King's College London; London, UK.

PMID: 25003013 PMCID: PMC3932950 DOI: 10.4161/rdis.27109

Abstract

Congenital skeletal anomalies are rare disorders, with a subset affecting both the cranial and appendicular skeleton. Two categories, craniosynostosis syndromes and chondrodysplasias, frequently result from aberrant regulation of the fibroblast growth factor (FGF) signaling pathway. Our recent work has implicated FGF signaling in a third category: ciliopathic skeletal dysplasias. In this work, we have used mouse mutants in two ciliopathy genes, Fuzzy (Fuz) and orofacial digital syndrome-1 (Ofd-1), to demonstrate increase in Fgf8 gene expression during critical stages of embryogenesis. While the mechanisms underlying FGF dysregulation differ in the different syndromes, our data raise the possibility that convergence on FGF signal transduction may underlie a wide range of skeletal anomalies. Here, we provide additional evidence of the skeletal phenotypes from the Fuz mouse model and highlight similarities between human ciliopathies and FGF-related syndromes.

Keywords: FGF; ciliopathy; skeletal dysplasia

References

  1. Nat Cell Biol. 2009 Oct;11(10):1225-32 - PubMed
  2. Nephron Physiol. 2009;111(3):p39-53 - PubMed
  3. Bone. 2012 Jan;50(1):28-41 - PubMed
  4. Cleft Palate Craniofac J. 1997 Jan;34(1):79-82 - PubMed
  5. Development. 2007 Aug;134(16):2903-12 - PubMed
  6. Development. 2001 Oct;128(19):3867-76 - PubMed
  7. Dis Model Mech. 2011 Jan;4(1):43-56 - PubMed
  8. Curr Top Dev Biol. 2008;85:303-32 - PubMed
  9. Cleft Palate Craniofac J. 1995 Jan;32(1):62-70 - PubMed
  10. Am J Hum Genet. 2011 Apr 8;88(4):508-15 - PubMed
  11. Proc Natl Acad Sci U S A. 2006 Dec 5;103(49):18603-8 - PubMed
  12. Pediatrics. 1958 Feb;21(2):298-307 - PubMed
  13. Am J Med Genet. 1993 Oct 1;47(5):624-32 - PubMed
  14. Nat Genet. 2006 Jan;38(1):112-7 - PubMed
  15. Acta Neuropathol. 2012 May;123(5):695-709 - PubMed
  16. Angle Orthod. 2000 Jun;70(3):247-52 - PubMed
  17. Development. 2005 Aug;132(15):3537-48 - PubMed
  18. Annu Rev Cell Dev Biol. 2007;23:345-73 - PubMed
  19. Hum Mol Genet. 2011 Nov 15;20(22):4324-33 - PubMed
  20. Genes Dev. 2004 Feb 1;18(3):290-305 - PubMed
  21. Cell. 2012 Apr 13;149(2):295-306 - PubMed
  22. Cleft Palate Craniofac J. 1995 May;32(3):251-4 - PubMed
  23. Dev Dyn. 2003 May;227(1):78-90 - PubMed
  24. Am J Hum Genet. 2010 Jun 11;86(6):949-56 - PubMed
  25. Am J Med Genet. 2000 Feb 14;90(4):310-4 - PubMed
  26. Am J Hum Genet. 2011 Nov 11;89(5):634-43 - PubMed
  27. Dev Biol. 2011 Jan 15;349(2):179-91 - PubMed
  28. Cleft Palate Craniofac J. 2006 Nov;43(6):740-8 - PubMed
  29. Genes Dev. 2002 Jun 15;16(12):1446-65 - PubMed
  30. Cytokine Growth Factor Rev. 2005 Apr;16(2):107-37 - PubMed
  31. Am J Med Genet. 1985 Dec;22(4):669-83 - PubMed
  32. J Med Genet. 1999 Jun;36(6):437-46 - PubMed
  33. Am J Hum Genet. 2002 Jun;70(6):1555-63 - PubMed
  34. Am J Med Genet A. 2010 Dec;152A(12):2995-3006 - PubMed
  35. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3855-60 - PubMed
  36. Hum Mol Genet. 2009 Dec 1;18(23):4565-75 - PubMed
  37. Chest. 1980 Oct;78(4):580-2 - PubMed
  38. Spine (Phila Pa 1976). 1997 Feb 15;22(4):402-5 - PubMed
  39. Dev Cell. 2013 Jun 24;25(6):623-35 - PubMed
  40. Development. 2004 Jan;131(2):325-35 - PubMed
  41. Nat Genet. 2006 Mar;38(3):303-11 - PubMed
  42. Am J Dis Child. 1981 Nov;135(11):1044-6 - PubMed
  43. Birth Defects Orig Artic Ser. 1975;11(2):372-9 - PubMed
  44. Dev Dyn. 2009 Dec;238(12):3035-42 - PubMed
  45. J Med Genet. 2013 Feb;50(2):91-8 - PubMed
  46. Am J Med Genet. 2001 Feb 15;99(1):63-6 - PubMed
  47. J Med Genet. 1989 Jun;26(6):393-6 - PubMed
  48. J Med Genet. 1999 Aug;36(8):599-603 - PubMed
  49. Development. 1997 Jan;124(1):113-23 - PubMed
  50. J Clin Invest. 1999 Dec;104(11):1517-25 - PubMed
  51. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):318-25 - PubMed
  52. Nat Genet. 1995 Jul;10(3):357-9 - PubMed
  53. Cleft Palate J. 1987 Oct;24(4):328-33 - PubMed
  54. Am J Med Genet A. 2011 Aug;155A(8):1969-71 - PubMed
  55. J Pediatr. 1977 Jan;90(1):55-61 - PubMed

Publication Types