Arteriovenous malformation in mice and men

Tumor Angiogenesis: Basic Mechanisms and Cancer Therapy

Volumn , Issue , 2008, Pages 363-374

  Revencu, Nicole ^a   Boon, Laurence ^b   Vikkula, Miikka ^a  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84882843511     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-33177-3_21     Document Type: Chapter

References (79)

1. Abdalla SA, Letarte M (2006) Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet 43:97-110
2. Andersson M, Karlsson L, Svensson PA, Ulfhammer E, Ekman M, Jernas M, Carlsson LM, Jern S (2005) Differential global gene expression response patterns of human endothelium exposed to shear stress and intraluminal pressure. J Vasc Res 42:441-52
3. Arthur HM, Ure J, Smith AJ, Renforth G, Wilson DI, Torsney E, Charlton R, Parums DV, Jowett T, Marchuk DA, Burn J, Diamond AG (2000) Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Dev Biol 217:42-53
4. Begbie ME, Wallace GM, Shovlin CL (2003) Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century. Postgrad Med J 79:18-24
5. Bourdeau A, Dumont DJ, Letarte M (1999) A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest 104:1343-1351
6. Bourdeau A, Cymerman U, Paquet ME, Meschino W, McKinnon WC, Guttmacher AE, Becker L, Letarte M (2000a) Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1. Am J Pathol 156:911-923
7. Bourdeau A, Faughnan ME, Letarte M (2000b) Endoglindeficient mice, a unique model to study hereditary hemorrhagic telangiectasia. Trends Cardiovasc Med 10:279-285
8. Bourdeau A, Faughnan ME, McDonald ML, Paterson AD, Wanless IR, Letarte M (2001) Potential role of modifier genes influencing transforming growth factor-beta1 levels in the development of vascular defects in endoglin heterozygous mice with hereditary hemorrhagic telangiectasia. Am J Pathol 158:2011-2020
9. Braverman IM, Keh A, Jacobson BS (1990) Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 95:422-427
10. Carlson TR, Yan Y, Wu X, Lam MT, Tang GL, Beverly LJ, Messina LM, Capobianco AJ, Werb Z, Wang R (2005) Endothelial expression of constitutively active Notch4 elicits reversible arteriovenous malformations in adult mice. Proc Natl Acad Sci USA 102:9884-9889
11. Carvalho RL, Jonker L, Goumans MJ, Larsson J, Bouwman P, Karlsson S, Dijke PT, Arthur HM, Mummery CL (2004) Defective paracrine signalling by TGFbeta in yolk sac vasculature of endoglin mutant mice: a paradigm for hereditary haemorrhagic telangiectasia. Development 131:6237-6247
12. Choi JH, Mohr JP (2005) Brain arteriovenous malformations in adults. Lancet Neurol 4:299-308
13. Cole SG, Begbie ME, Wallace GM, Shovlin CL (2005) A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet 42:577-582
14. Conley BA, Koleva R, Smith JD, Kacer D, Zhang D, Bernabeu C, Vary CP (2004) Endoglin controls cell migration and composition of focal adhesions: function of the cytosolic domain. J Biol Chem 279:27440-27449
15. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M (2003) Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73:1240-1249
16. Fernandez LA, Sanz-Rodriguez F, Zarrabeitia R, Perez-Molino A, Hebbel R P, Nguyen J, Bernabeu C, Botella LM (2005) Blood outgrowth endothelial cells from hereditary haemorrhagic telangiectasia patients reveal abnormalities compatible with vascular lesions. Cardiovasc Res 68:235-248
17. Fischer A, Schumacher N, Maier M, Sendtner M, Gessler M (2004) The Notch target genes Hey1 and Hey2 are required for embryonic vascular development. Genes Dev 18:901-911
18. Fleetwood IG, Steinberg GK (2002) Arteriovenous malformations. Lancet 359:863-873
19. Gale NW, Dominguez MG, Noguera I, Pan L, Hughes V, Valenzuela DM, Murphy AJ, Adams NC, Lin HC, Holash J, Thurston G, Yancopoulos GD (2004) Haploinsufficiency of delta-like 4 ligand results in embryonic lethality due to major defects in arterial and vascular development. Proc Natl Acad Sci USA 101:15949-15954
20. Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA (2004) A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 363:852-859
21. Goumans MJ, Valdimarsdottir G, Itoh S, Rosendahl A, Sideras P, Ten Dijke P (2002) Balancing the activation state of the endothelium via two distinct TGF-beta type I receptors. EMBO J 21:1743-1753
22. Goumans MJ, Lebrin F, Valdimarsdottir G (2003) Controlling the angiogenic switch: a balance between two distinct TGF-b receptor signaling pathways. Trends Cardiovasc Med 13:301-307
23. Gu J, Tamura M, Yamada KM (1998) Tumor suppressor PTEN inhibits integrin-and growth factor-mediated mitogenactivated protein (MAP) kinase signaling pathways. J Cell Biol 143:1375-1383
24. Hamada K, Sasaki T, Koni PA, Natsui M, Kishimoto H, Sasaki J, Yajima N, Horie Y, Hasegawa G, Naito M, Miyazaki J, Suda T, Itoh H, Nakao K, Mak TW, Nakano T, Suzuki A (2005) The PTEN/PI3 K pathway governs normal vascular development and tumor angiogenesis. Genes Dev 19:2054-2065
25. Henkemeyer M, Rossi DJ, Holmyard DP, Puri MC, Mbamalu G, Harpal K, Shih TS, Jacks T, Pawson T (1995) Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein. Nature 377:695-701
26. Isogai S, Lawson ND, Torrealday S, Horiguchi M, Weinstein BM (2003) Angiogenic network formation in the developing vertebrate trunk. Development 130:5281-5290
27. Jerkic M, Rivas-Elena JV, Prieto M, Carron R, Sanz-Rodriguez F, Perez-Barriocanal F, Rodriguez-Barbero A, Bernabeu C, Lopez-Novoa JM (2004) Endoglin regulates nitric oxide-dependent vasodilatation. FASEB J 18:609-611
28. Jerkic M, Rodriguez-Barbero A, Prieto M, Toporsian M, Pericacho M, Rivas-Elena J V, Obreo J, Wang A, Perez-Barriocanal F, Arevalo M, Bernabeu C, Letarte M, Lopez-Novoa JM (2006) Reduced angiogenic responses in adult Endoglin heterozygous mice. Cardiovasc Res 69:845-854
29. Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA (1996) Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 13:189-195
30. Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID (2004) Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation 109:1354-1358
31. Kim I, Ryu YS, Kwak HJ, Ahn SY, Oh JL, Yancopoulos GD, Gale NW, Koh GY (2002) EphB ligand, ephrinB2, suppresses the VEGF-and angiopoietin 1-induced Ras/mitogen-activated protein kinase pathway in venous endothelial cells. FASEB J 16:1126-1128
32. Koul D, Shen R, Garyali A, Ke LD, Liu TJ, Yung WK (2002) MMAC/PTEN tumor suppressor gene regulates vascular endothelial growth factor-mediated angiogenesis in prostate cancer. Int J Oncol 21:469-475
33. Krebs LT, Shutter JR, Tanigaki K, Honjo T, Stark KL, Gridley T (2004) Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants. Genes Dev 18:2469-2473
34. Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias PL (2005) Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age. Review of 50 consecutive patients aged 1 day-60 years. Neuroradiology 47:711-720
35. Kulkarni SV, Gish G, Van Der Geer P, Henkemeyer M, Pawson T (2000) Role of p120 Ras-GAP in directed cell movement. J Cell Biol 149:457-470
36. Lamouille S, Mallet C, Feige JJ, Bailly S (2002) Activin receptor-like kinase 1 is implicated in the maturation phase of angiogenesis. Blood 100:4495-4501
37. Lasjaunias PL (1997) Vascular diseases in neonates, infants and children. Springer, Berlin Heidelberg New York
38. Lawson ND, Scheer N, Pham VN, Kim CH, Chitnis AB, Campos-Ortega JA, Weinstein BM (2001) Notch signaling is required for arterial-venous differentiation during embryonic vascular development. Development 128:3675-3683
39. Le Noble F, Moyon D, Pardanaud L, Yuan L, Djonov V, Matthijsen R, Breant C, Fleury V, Eichmann A (2004) Flow regulates arterial-venous differentiation in the chick embryo yolk sac. Development 131:361-375
40. Lebrin F, Goumans MJ, Jonker L, Carvalho RL, Valdimarsdottir G, Thorikay M, Mummery C, Arthur HM, Ten Dijke P (2004) Endoglin promotes endothelial cell proliferation and TGF-beta/ALK1 signal transduction. EMBO J 23:4018-4028
41. Letarte M, McDonald ML, Li C, Kathirkamathamby K, Vera S, Pece-Barbara N, Kumar S (2005) Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. Cardiovasc Res 68:155-164
42. Li C, Hampson IN, Hampson L, Kumar P, Bernabeu C, Kumar S (2000) CD105 antagonizes the inhibitory signaling of transforming growth factor beta1 on human vascular endothelial cells. FASEB J 14:55-64
43. Maehama T, Dixon JE (1998) The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3, 4, 5-trisphosphate. J Biol Chem 273:13375-13378
44. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al. (1994) Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 8:345-351
45. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL et al (1994) A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 6:197-204
46. Meadows KN, Bryant P, Pumiglia K (2001) Vascular endothelial growth factor induction of the angiogenic phenotype requires Ras activation. J Biol Chem 276:49289-49298
47. Meadows KN, Bryant P, Vincent PA, Pumiglia KM (2004) Activated Ras induces a proangiogenic phenotype in primary endothelial cells. Oncogene 23:192-200
48. Moyon D, Pardanaud L, Yuan L, Breant C, Eichmann A (2001) Plasticity of endothelial cells during arterial-venous differentiation in the avian embryo. Development 128:3359-3370
49. Mulliken JB, Glowacki J (1982) Classification of pediatric vascular lesions. Plast Reconstr Surg 70:120-121
50. Mulliken JB, Young AE (1988) Vascular birthmarks: hemangiomas and malformations. Saunders, Philadelphia
51. Murray P (1926) The physiological principle of minimum. The vascular system and the cost of blood volume. Proc Natl Acad Sci USA 12:207-214
52. Oh SP, Seki T, Goss KA, Imamura T, Yi Y, Donahoe PK, Li L, Miyazono K, Ten Dijke P, Kim S, Li E (2000) Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci USA 97:2626-2631
53. Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL (2005) Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke 36:2278-2280
54. Pece-Barbara N, Vera S, Kathirkamathamby K, Liebner S, Di Guglielmo GM, Dejana E, Wrana JL, Letarte M (2005) Endoglin null endothelial cells proliferate faster and are more responsive to transforming growth factor beta1 with higher affinity receptors and an activated Alk1 pathway. J Biol Chem 280:27800-27808
55. Pescini F, Sarti C, Pantoni L, Mangiafico S, Bianchi S, Dotti MT, Federico A, Inzitari D (2006) Cerebellar arteriovenous malformation and vertebral artery aneurysm in a CADASIL patient. Acta Neurol Scand 113:62-63
56. Risau W (1997) Mechanisms of angiogenesis. Nature 386:671-674
57. Sanz-Rodriguez F, Guerrero-Esteo M, Botella LM, Banville D, Vary CP, Bernabeu C (2004) Endoglin regulates cytoskeletal organization through binding to ZRP-1, a member of the Lim family of proteins. J Biol Chem 279:32858-32868
58. Satomi J, Mount RJ, Toporsian M, Paterson AD, Wallace MC, Harrison RV, Letarte M (2003) Cerebral vascular abnormalities in a murine model of hereditary hemorrhagic telangiectasia. Stroke 34:783-789
59. Seki T, Hong KH, Oh SP (2006) Nonoverlapping expression patterns of ALK1 and ALK5 reveal distinct roles of each receptor in vascular development. Lab Invest 86:116-129
60. Shawber CJ, Kitajewski J (2004) Notch function in the vasculature: insights from zebrafish, mouse and man. Bioessays 26:225-234
61. Shovlin CL, Hughes JM, Tuddenham EG, Temperley I, Perembelon YF, Scott J, Seidman CE, Seidman JG (1994) A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nat Genet 6:205-209
62. Sirard C, De La Pompa JL, Elia A, Itie A, Mirtsos C, Cheung A, Hahn S, Wakeham A, Schwartz L, Kern SE, Rossant J, Mak TW (1998) The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo. Genes Dev 12:107-119
63. Sorensen LK, Brooke BS, Li DY, Urness LD (2003) Loss of distinct arterial and venous boundaries in mice lacking endoglin, a vascular-specific TGFbeta coreceptor. Dev Biol 261:235-250
64. Srinivasan S, Hanes MA, Dickens T, Porteous ME, Oh SP, Hale LP, Marchuk DA (2003) A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet 12:473-482
65. Tamura M, Gu J, Matsumoto K, Aota S, Parsons R, Yamada KM (1998) Inhibition of cell migration, spreading, and focal adhesions by tumor suppressor PTEN. Science 280:1614-1617
66. Tamura M, Gu J, Takino T, Yamada KM (1999a) Tumor suppressor PTEN inhibition of cell invasion, migration, and growth: differential involvement of focal adhesion kinase and p130Cas. Cancer Res 59:442-449
67. Tamura M, Gu J, Tran H, Yamada KM (1999b) PTEN gene and integrin signaling in cancer. J Natl Cancer Inst 91:1820-1828
68. Thoma R (1893) Untersuchungen über die Histogenese une Histomechanik des Gefässsystems. Enke, Stuttgart
69. Tolkacheva T, Chan AM (2000) Inhibition of H-Ras transformation by the PTEN/MMAC1/TEP1 tumor suppressor gene. Oncogene 19:680-689
70. Toporsian M, Gros R, Kabir MG, Vera S, Govindaraju K, Eidelman DH, Husain M, Letarte M (2005) A role for endoglin in coupling eNOS activity and regulating vascular tone revealed in hereditary hemorrhagic telangiectasia. Circ Res 96:684-692
71. Turnbull MM, Humeniuk V, Stein B, Suthers GK (2005) Arteriovenous malformations in Cowden syndrome. J Med Genet 42:e50
72. Urness LD, Sorensen LK, Li DY (2000) Arteriovenous malformations in mice lacking activin receptor-like kinase-1. Nat Genet 26:328-331
73. Uyttendaele H, Ho J, Rossant J, Kitajewski J (2001) Vascular patterning defects associated with expression of activated Notch4 in embryonic endothelium. Proc Natl Acad Sci USA 98:5643-5648
74. Vincent P, Plauchu H, Hazan J, Faure S, Weissenbach J, Godet J (1995) A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 4:945-949
75. Yoon MJ, Cho CH, Lee CS, Jang IH, Ryu SH, Koh GY (2003) Localization of Tie2 and phospholipase D in endothelial caveolae is involved in angiopoietin-1-induced MEK/ERK phosphorylation and migration in endothelial cells. Biochem Biophys Res Commun 308:101-105
76. You LR, Lin FJ, Lee CT, De Mayo FJ, Tsai MJ, Tsai SY (2005) Suppression of Notch signalling by the COUP-TFII transcription factor regulates vein identity. Nature 435:98-104
77. Yue Y, Lypowy J, Hedhli N, Abdellatif M (2004) Ras GTPaseactivating protein binds to Akt and is required for its activation. J Biol Chem 279:12883-12889
78. Zhong TP, Childs S, Leu JP, Fishman MC (2001) Gridlock signalling pathway fashions the first embryonic artery. Nature 414:216-220
79. Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C (2000) Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 9:765-768