Table of Contents Author Guidelines Submit a Manuscript
Genetics Research International
Volume 2013, Article ID 784789, 7 pages
http://dx.doi.org/10.1155/2013/784789
Research Article

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria

1Laboratory of Applied Molecular Biology and Immunology, University of Tlemcen, 13000 Tlemcen, Algeria
2Service de Stomatologie et de Chirurgie Buccale du Centre Hospitalier et Universitaire de Tlemcen, 13000 Tlemcen, Algeria
3Génétique Médicale, Laboratoire de Cytologie Clinique et Cytogénétique, CHU de Nîmes, Place du Professeur Robert Debré, 30029 Nimes Cedex 9, France
4Unité Médicale des Maladies Auto-Inflammatoires, Département de Génétique, CHRU, Montpellier, 34961 Montpellier Cedex 2, France
5Université Montpellier 1, 34961 Montpellier Cedex 2, France
6Génétique des Maladies Auto-Inflammatoires et des Ostéo-Arthropathies Chroniques, INSERM U844, 34091 Montpellier Cedex 5, France
7Laboratoire d’Immunogénétique Moléculaire, Institut de Génétique Humaine, CNRS UPR 1142, et Université Montpellier 2, 34095 Montpellier Cedex 5, France

Received 2 August 2013; Accepted 21 October 2013

Academic Editor: Biaoru Li

Copyright © 2013 Nabila Brahami et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. R. G. Elluru, “Cutaneous vascular lesions,” Facial Plastic Surgery Clinics of North America, vol. 21, no. 1, pp. 111–126, 2013. View at Publisher · View at Google Scholar
  2. O. Enjolras, “Hemangiomes,” in Atlas des Hémangiomes et Malformations Vasculaires Superficielles, O. Enjolras, M. C. Riche, J. B. Mulliken, and J. J. Merland, Eds., pp. 17–54, Medsi McGraw-Hill, Paris, France, 1990. View at Google Scholar
  3. F. Lemarchand-Venencien, “Classification of angiomas: hemangiomas and superficial vascular malformations,” Revue du Praticien, vol. 42, no. 16, pp. 1998–2004, 1992. View at Google Scholar · View at Scopus
  4. D. A. Marchuk, S. Srinivasan, T. L. Squire, and J. S. Zawistowski, “Vascular morphogenesis: tales of two syndromes,” Human Molecular Genetics, vol. 12, no. 1, pp. R97–R112, 2003. View at Google Scholar · View at Scopus
  5. J. Murthy, “Vascular anomalies,” Indian Journal of Plastic Surgery, vol. 38, no. 1, pp. 56–62, 2005. View at Google Scholar · View at Scopus
  6. G. T. Richter and A. B. Friedman, “Hemangiomas and vascular malformations: current theory and management,” International Journal of Pediatrics, vol. 2012, Article ID 645678, 10 pages, 2012. View at Publisher · View at Google Scholar
  7. A. Di Giovanni and L. Revelli, “Venous angiodysplasias with endoral manifestation. The problems of therapy,” Minerva stomatologica, vol. 45, no. 3, pp. 113–119, 1996. View at Google Scholar · View at Scopus
  8. L. B. Kaban and J. B. Mulliken, “Vascular anomalies of the maxillofacial region,” Journal of Oral and Maxillofacial Surgery, vol. 44, no. 3, pp. 203–213, 1986. View at Google Scholar · View at Scopus
  9. J. A. Werner, A. A. Dünne, B. J. Folz et al., “Current concepts in the classification, diagnosis and treatment of hemangiomas and vascular malformations of the head and neck,” European Archives of Oto-Rhino-Laryngology, vol. 258, no. 3, pp. 141–149, 2001. View at Publisher · View at Google Scholar · View at Scopus
  10. D. Herbreteau, O. Enjolras, and M. C. Riché, “Superficial venous malformations,” Revue du Praticien, vol. 42, no. 16, pp. 2025–2030, 1992. View at Google Scholar · View at Scopus
  11. M. Vikkula, L. M. Boon, K. L. Carraway III et al., “Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2,” Cell, vol. 87, no. 7, pp. 1181–1190, 1996. View at Publisher · View at Google Scholar · View at Scopus
  12. L. M. Boon, J. B. Mulliken, M. Vikkula et al., “Assignment of a locus for dominantly inherited venous malformations to chromosome 9p,” Human Molecular Genetics, vol. 3, no. 9, pp. 1583–1587, 1994. View at Google Scholar · View at Scopus
  13. V. Wouters, N. Limaye, M. Uebelhoer et al., “Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects,” European Journal of Human Genetics, vol. 18, no. 4, pp. 414–420, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. N. Limaye, L. M. Boon, and M. Vikkula, “From germline towards somatic mutations in the pathophysiology of vascular anomalies,” Human Molecular Genetics, vol. 18, no. 1, pp. R65–R74, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. B. Sari, M. Aribi, and B. Saari, “Effect of endogamy and consanguinity on the development of labial venous malformations in area of Tlemcen (West Algeria),” The Open Genomics Journal, vol. 1, pp. 1–5, 2008. View at Publisher · View at Google Scholar
  16. O. Enjolras, M. C. Riche, and J. J. Merland, “Superficial arterial and venous malformations: clinical features and complementary investigations,” Annales de Chirurgie Plastique et Esthetique, vol. 36, no. 4, pp. 271–278, 1991. View at Google Scholar · View at Scopus
  17. S. Rozen and H. Skaletsky, “Primer3 on the WWW for general users and for biologist programmers,” Methods in Molecular Biology, vol. 132, pp. 365–386, 2000. View at Google Scholar · View at Scopus
  18. T. Hubbard, D. Barker, E. Birney et al., “The Ensembl genome database project,” Nucleic Acids Research, vol. 30, no. 1, pp. 38–41, 2002. View at Google Scholar · View at Scopus
  19. D. J. Dumont, T. P. Yamaguchi, R. A. Conlon, J. Rossant, and M. L. Breitman, “Tek, a novel tyrosine kinase gene located on mouse chromosome 4, is expressed in endothelial cells and their presumptive precursors,” Oncogene, vol. 7, no. 8, pp. 1471–1480, 1992. View at Google Scholar · View at Scopus
  20. H. Schnurch and W. Risau, “Expression of tie-2, a member of a novel family of receptor tyrosine kinases, in the endothelial cell lineage,” Development, vol. 119, no. 3, pp. 957–968, 1993. View at Google Scholar · View at Scopus
  21. T. N. Sato, Y. Qin, C. A. Kozak, and K. L. Audus, “Tie-1 and tie-2 define another class of putative receptor tyrosine kinase genes expressed in early embryonic vascular system,” Proceedings of the National Academy of Sciences of the United States of America, vol. 90, no. 24, pp. 9355–9358, 1993. View at Google Scholar · View at Scopus
  22. D. J. Dumont, G. Gradwohl, G. H. Fong et al., “Dominant-negative and targeted null mutations in the endothelial receptor tyrosine kinase, tek, reveal a critical role in vasculogenesis of the embryo,” Genes and Development, vol. 8, no. 16, pp. 1897–1909, 1994. View at Google Scholar · View at Scopus
  23. D. J. Dumont, G. H. Fong, M. C. Puri, G. Gradwohl, K. Alitalo, and M. L. Breitman, “Vascularization of the mouse embryo: a study of flk-1, tek, tie, and vascular endothelial growth factor expression during development,” Developmental Dynamics, vol. 203, no. 1, pp. 80–92, 1995. View at Google Scholar · View at Scopus
  24. T. N. Sato, Y. Tozawa, U. Deutsch et al., “Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in blood vessel formation,” Nature, vol. 376, no. 6535, pp. 70–74, 1995. View at Google Scholar · View at Scopus
  25. C. Suri, P. F. Jones, S. Patan et al., “Requisite role of angiopoietin-1, a ligand for the TIE2 receptor, during embryonic angiogenesis,” Cell, vol. 87, no. 7, pp. 1171–1180, 1996. View at Publisher · View at Google Scholar · View at Scopus
  26. J. Partanen and D. J. Dumont, “Functions of Tie1 and Tie2 receptor tyrosine kinases in vascular development,” Current Topics in Microbiology and Immunology, vol. 237, pp. 159–172, 1999. View at Google Scholar · View at Scopus
  27. N. Jones, K. Iljin, D. J. Dumont, and K. Alitalo, “Tie receptors: new modulators of angiogenic and lymphangiogenic responses,” Nature Reviews Molecular Cell Biology, vol. 2, no. 4, pp. 257–267, 2001. View at Publisher · View at Google Scholar · View at Scopus
  28. L. Eklund and B. R. Olsen, “Tie receptors and their angiopoietin ligands are context-dependent regulators of vascular remodeling,” Experimental Cell Research, vol. 312, no. 5, pp. 630–641, 2006. View at Publisher · View at Google Scholar · View at Scopus
  29. P. C. Maisonpierre, C. Suri, P. F. Jones et al., “Angiopoietin-2, a natural antagonist for Tie2 that disrupts in vivo angiogenesis,” Science, vol. 277, no. 5322, pp. 55–60, 1997. View at Publisher · View at Google Scholar · View at Scopus
  30. S. Loughna and T. N. Sato, “Angiopoietin and Tie signaling pathways in vascular development,” Matrix Biology, vol. 20, no. 5-6, pp. 319–325, 2001. View at Publisher · View at Google Scholar · View at Scopus
  31. P. Saharinen, K. Kerkelä, N. Ekman et al., “Multiple angiopoietin recombinant proteins activate the Tie1 receptor tyrosine kinase and promote its interaction with Tie2,” Journal of Cell Biology, vol. 169, no. 2, pp. 239–243, 2005. View at Publisher · View at Google Scholar · View at Scopus
  32. H. T. Yuan, S. Venkatesha, B. Chan et al., “Activation of the orphan endothelial receptor Tie1 modifies Tie2-mediated intracellular signaling and cell survival,” FASEB Journal, vol. 21, no. 12, pp. 3171–3183, 2007. View at Publisher · View at Google Scholar · View at Scopus
  33. D. M. Valenzuela, J. A. Griffiths, J. Rojas et al., “Angiopoietins 3 and 4: diverging gene counterparts in mice and humans,” Proceedings of the National Academy of Sciences of the United States of America, vol. 96, no. 5, pp. 1904–1909, 1999. View at Publisher · View at Google Scholar · View at Scopus
  34. I. Cascone, L. Napione, F. Maniero, G. Serini, and F. Bussolino, “Stable interaction between α5β1 integrin and Tie2 tyrosine kinase receptor regulates endothelial cell response to Ang-1,” Journal of Cell Biology, vol. 170, no. 6, pp. 993–1004, 2005. View at Publisher · View at Google Scholar · View at Scopus
  35. K. L. Kim, I. S. Shin, J. M. Kim et al., “Interaction between Tie receptors modulates angiogenic activity of angiopoietin2 in endothelial progenitor cells,” Cardiovascular Research, vol. 72, no. 3, pp. 394–402, 2006. View at Publisher · View at Google Scholar · View at Scopus
  36. G. Fachinger, U. Deutsch, and W. Risau, “Functional interaction of vascular endothelial-protein-tyrosine phosphatase with the Angiopoietin receptor Tie-2,” Oncogene, vol. 18, no. 43, pp. 5948–5953, 1999. View at Publisher · View at Google Scholar · View at Scopus
  37. M. G. Dominguez, V. C. Hughes, L. Pan et al., “Vascular endothelial tyrosine phosphatase (VE-PTP)-null mice undergo vasculogenesis but die embyronically because of defects in angiogenesis,” Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 9, pp. 3243–3248, 2007. View at Publisher · View at Google Scholar · View at Scopus
  38. H. Kidoya, M. Ueno, Y. Yamada et al., “Spatial and temporal role of the apelin/APJ system in the caliber size regulation of blood vessels during angiogenesis,” EMBO Journal, vol. 27, no. 3, pp. 522–534, 2008. View at Publisher · View at Google Scholar · View at Scopus