메뉴 건너뛰기




Volumn 3, Issue 2, 2013, Pages

Arteriovenous malformations and other vascular malformation syndromes

Author keywords

[No Author keywords available]

Indexed keywords

ARTERIOVENOUS MALFORMATION; BRAIN HEMANGIOMA; CAPILLARY; CONGENITAL MALFORMATION; GENETICS; HUMAN; MUCOSA; MUTATION; RENDU OSLER WEBER DISEASE; REVIEW; SKIN; SKIN BLOOD VESSEL DISORDER; VASCULARIZATION;

EID: 84878976353     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a006635     Document Type: Article
Times cited : (41)

References (62)
  • 1
    • 0034774191 scopus 로고    scopus 로고
    • A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults
    • Al-Shahi R, Warlow C. 2001. A systematic review of the frequency and prognosis of arteriovenous malformations of the brain in adults. Brain 124: 1900-1926.
    • (2001) Brain , vol.124 , pp. 1900-1926
    • Al-Shahi, R.1    Warlow, C.2
  • 3
    • 33645731313 scopus 로고    scopus 로고
    • Signal transducer and activator of transcription 1 activation in endothelial cells is a negative regulator of angiogenesis
    • Battle T.E., Lynch RA, Frank DA. 2006. Signal transducer and activator of transcription 1 activation in endothelial cells is a negative regulator of angiogenesis. Cancer Res 66: 3649-3657.
    • (2006) Cancer Res , vol.66 , pp. 3649-3657
    • Battle, T.E.1    Lynch, R.A.2    Frank, D.A.3
  • 4
    • 0032952010 scopus 로고    scopus 로고
    • Selective ablation of immature blood vessels in established human tumors follows vascular endothelial growth factor withdrawal
    • Benjamin L.E., Golijanin D, Itin A, Pode D, Keshet E. 1999. Selective ablation of immature blood vessels in established human tumors follows vascular endothelial growth factor withdrawal. J Clin Invest 103: 159-165.
    • (1999) J Clin Invest , vol.103 , pp. 159-165
    • Benjamin, L.E.1    Golijanin, D.2    Itin, A.3    Pode, D.4    Keshet, E.5
  • 6
    • 19444387096 scopus 로고    scopus 로고
    • RASA1: Variable phenotype with capillary and arteriovenous malformations
    • Boon L.M., Mulliken JB, Vikkula M. 2005. RASA1: Variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 15: 265-269.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 265-269
    • Boon, L.M.1    Mulliken, J.B.2    Vikkula, M.3
  • 7
    • 0032720393 scopus 로고    scopus 로고
    • A murine model of hereditary hemorrhagic telangiectasia
    • Bourdeau A., Dumont DJ, Letarte M. 1999. A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest 104: 1343-1351.
    • (1999) J Clin Invest , vol.104 , pp. 1343-1351
    • Bourdeau, A.1    Dumont, D.J.2    Letarte, M.3
  • 8
    • 0042632780 scopus 로고    scopus 로고
    • Vascular malformations: Localized defects in vascular morphogenesis
    • Brouillard P., Vikkula M. 2003. Vascular malformations: Localized defects in vascular morphogenesis. Clin Genet 63: 340-351.
    • (2003) Clin Genet , vol.63 , pp. 340-351
    • Brouillard, P.1    Vikkula, M.2
  • 9
    • 33644823170 scopus 로고    scopus 로고
    • Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease
    • Buscarini E., Danesino C, Olivieri C, Lupinacci G, Zambelli A. 2005. Liver involvement in hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber disease. Dig Liver Dis 37: 635-645.
    • (2005) Dig Liver Dis , vol.37 , pp. 635-645
    • Buscarini, E.1    Danesino, C.2    Olivieri, C.3    Lupinacci, G.4    Zambelli, A.5
  • 10
    • 0034925464 scopus 로고    scopus 로고
    • Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations
    • Clatterbuck R.E., Eberhart CG, Crain BJ, Rigamonti D. 2001. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 71: 188-192.
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 188-192
    • Clatterbuck, R.E.1    Eberhart, C.G.2    Crain, B.J.3    Rigamonti, D.4
  • 11
    • 76749109917 scopus 로고    scopus 로고
    • Vascular malformations and arteriovenous fistulas of the kidney
    • Cura M., Elmerhi F, Suri R, Bugnone A, Dalsaso T. 2010. Vascular malformations and arteriovenous fistulas of the kidney. Acta Radiol 51: 144-149.
    • (2010) Acta Radiol , vol.51 , pp. 144-149
    • Cura, M.1    Elmerhi, F.2    Suri, R.3    Bugnone, A.4    Dalsaso, T.5
  • 12
    • 33847369980 scopus 로고    scopus 로고
    • Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells
    • David L., Mallet C, Mazerbourg S, Feige JJ, Bailly S. 2007. Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells. Blood 109: 1953-1961.
    • (2007) Blood , vol.109 , pp. 1953-1961
    • David, L.1    Mallet, C.2    Mazerbourg, S.3    Feige, J.J.4    Bailly, S.5
  • 15
    • 0037069690 scopus 로고    scopus 로고
    • Rho GTPases in cell biology
    • Etienne-Manneville S, Hall A. 2002. Rho GTPases in cell biology. Nature 420: 629-635.
    • (2002) Nature , vol.420 , pp. 629-635
    • Etienne-Manneville, S.1    Hall, A.2
  • 16
    • 76349109226 scopus 로고    scopus 로고
    • Recent insights into cerebral cavernous malformations: Acomplex jigsaw puzzle under construction
    • Faurobert E., Albiges-Rizo C. 2009. Recent insights into cerebral cavernous malformations: Acomplex jigsaw puzzle under construction. FEBS J 277: 1084-1096.
    • (2009) FEBS J , vol.277 , pp. 1084-1096
    • Faurobert, E.1    Albiges-Rizo, C.2
  • 19
    • 77649220257 scopus 로고    scopus 로고
    • Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling
    • Glading A.J., Ginsberg MH. 2010. Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling. Dis Model Mech 3: 73-83.
    • (2010) Dis Model Mech , vol.3 , pp. 73-83
    • Glading, A.J.1    Ginsberg, M.H.2
  • 20
    • 35548936992 scopus 로고    scopus 로고
    • KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions
    • Glading A., Han J, Stockton RA, Ginsberg MH. 2007. KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions. J Cell Biol 179: 247-254.
    • (2007) J Cell Biol , vol.179 , pp. 247-254
    • Glading, A.1    Han, J.2    Stockton, R.A.3    Ginsberg, M.H.4
  • 21
    • 59649096589 scopus 로고    scopus 로고
    • Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke
    • Gore A.V., Lampugnani MG, Dye L, Dejana E, Weinstein BM. 2008. Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke. DisModelMech 1: 275-281.
    • (2008) DisModelMech , vol.1 , pp. 275-281
    • Gore, A.V.1    Lampugnani, M.G.2    Dye, L.3    Dejana, E.4    Weinstein, B.M.5
  • 22
    • 59149096171 scopus 로고    scopus 로고
    • A PP2A phosphatase high density interaction network identifies a novel striatininteracting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein
    • Goudreault M., D'Ambrosio LM, Kean MJ, Mullin MJ, Larsen B.G., Sanchez A, Chaudhry S, Chen GI, Sicheri F, Nesvizhskii A.I., et al. 2009. A PP2A phosphatase high density interaction network identifies a novel striatininteracting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein. Mol Cell Proteomics 8: 157-171.
    • (2009) Mol Cell Proteomics , vol.8 , pp. 157-171
    • Goudreault, M.1    D'Ambrosio, L.M.2    Kean, M.J.3    Mullin, M.J.4    Larsen, B.G.5    Sanchez, A.6    Chaudhry, S.7    Chen, G.I.8    Sicheri, F.9    Nesvizhskii, A.I.10
  • 23
    • 67649199928 scopus 로고    scopus 로고
    • Hereditary haemorrhagic telangiectasia: A clinical and scientific review
    • Govani F.S., Shovlin CL. 2009. Hereditary haemorrhagic telangiectasia: A clinical and scientific review. Eur J Hum Genet 17: 860-871.
    • (2009) Eur J Hum Genet , vol.17 , pp. 860-871
    • Govani, F.S.1    Shovlin, C.L.2
  • 26
    • 49549120217 scopus 로고    scopus 로고
    • Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression
    • Hu H.T., Huang YH, Chang YA, Lee CK, Jiang MJ, Wu LW. 2008. Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression. J Invest Dermatol 128: 2325-2333.
    • (2008) J Invest Dermatol , vol.128 , pp. 2325-2333
    • Hu, H.T.1    Huang, Y.H.2    Chang, Y.A.3    Lee, C.K.4    Jiang, M.J.5    Wu, L.W.6
  • 27
    • 0031425750 scopus 로고    scopus 로고
    • Arteriovenous malformation in the buttock: Treatment with a combination of selective embolization and excision
    • Ishihara T., Hirooka M, Ono T. 1997. Arteriovenous malformation in the buttock: Treatment with a combination of selective embolization and excision. J Dermatol 24: 787-792.
    • (1997) J Dermatol , vol.24 , pp. 787-792
    • Ishihara, T.1    Hirooka, M.2    Ono, T.3
  • 28
    • 14744276941 scopus 로고    scopus 로고
    • Association of CNK1with Rho guanine nucleotide exchange factors controls signaling specificity downstream of Rho
    • Jaffe A.B., Hall A, Schmidt A. 2005. Association of CNK1with Rho guanine nucleotide exchange factors controls signaling specificity downstream of Rho. Curr Biol 15: 405-412.
    • (2005) Curr Biol , vol.15 , pp. 405-412
    • Jaffe, A.B.1    Hall, A.2    Schmidt, A.3
  • 31
    • 0034107153 scopus 로고    scopus 로고
    • The natural history of familial cerebral cavernomas: A retrospective MRI study of 40 patients
    • Labauge P., Brunereau L, Levy C, Laberge S, Houtteville JP. 2000. The natural history of familial cerebral cavernomas: A retrospective MRI study of 40 patients. Neuroradiology 42: 327-332.
    • (2000) Neuroradiology , vol.42 , pp. 327-332
    • Labauge, P.1    Brunereau, L.2    Levy, C.3    Laberge, S.4    Houtteville, J.P.5
  • 34
    • 63149086659 scopus 로고    scopus 로고
    • From germline towards somatic mutations in the pathophysiology of vascular anomalies
    • Limaye N., Boon LM, Vikkula M. 2009a. From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 18: R65-R74.
    • (2009) Hum Mol Genet , vol.18
    • Limaye, N.1    Boon, L.M.2    Vikkula, M.3
  • 37
    • 4344668986 scopus 로고    scopus 로고
    • Arteriovenous malformation of the scalp: Case report and review of the literature
    • Matsushige T., Kiya K, Satoh H, Mizoue T, Kagawa K, Araki H. 2004. Arteriovenous malformation of the scalp: Case report and review of the literature. Surg Neurol 62: 253-259.
    • (2004) Surg Neurol , vol.62 , pp. 253-259
    • Matsushige, T.1    Kiya, K.2    Satoh, H.3    Mizoue, T.4    Kagawa, K.5    Araki, H.6
  • 41
    • 0001210867 scopus 로고
    • On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucousmembranes
    • Osler W. 1900. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucousmembranes. Bull JohnsHopkinsHosp 12: 333-337.
    • (1900) Bull JohnsHopkinsHosp , vol.12 , pp. 333-337
    • Osler, W.1
  • 42
    • 0024384777 scopus 로고
    • A propos de 131 cas d'angiomes caverneux (cavernomes) du S.N.C. repérés par l'analyse rétrospective de 24 535 autopsies
    • Otten P., Pizzolato GP, Rilliet B, Berney J. 1989. A propos de 131 cas d'angiomes caverneux (cavernomes) du S.N.C. repérés par l'analyse rétrospective de 24 535 autopsies. Neurochirurgie 35: 82-83, 128-131.
    • (1989) Neurochirurgie , vol.35 , Issue.82-83 , pp. 128-131
    • Otten, P.1    Pizzolato, G.P.2    Rilliet, B.3    Berney, J.4
  • 44
    • 33744900611 scopus 로고    scopus 로고
    • Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development
    • Petit N., Blecon A, Denier C, Tournier-Lasserve E. 2006. Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. Gene Expr Patterns 6: 495-503.
    • (2006) Gene Expr Patterns , vol.6 , pp. 495-503
    • Petit, N.1    Blecon, A.2    Denier, C.3    Tournier-Lasserve, E.4
  • 45
    • 0001524076 scopus 로고
    • É pistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux
    • Rendu H. 1896. É pistaxis répétées chez un sujet porteur de petits angiomes cutanés et muqueux. Bull Mem Soc Med Hop Paris 13: 731-733.
    • (1896) Bull Mem Soc Med Hop Paris , vol.13 , pp. 731-733
    • Rendu, H.1
  • 46
    • 76349124651 scopus 로고    scopus 로고
    • Recent insights into cerebral cavernous malformations: The molecular genetics of CCM
    • Riant F., Bergametti F, Ayrignac X, Boulday G, Tournier-Lasserve E. 2009. Recent insights into cerebral cavernous malformations: The molecular genetics of CCM. FEBS J 277: 1070-1075.
    • (2009) FEBS J , vol.277 , pp. 1070-1075
    • Riant, F.1    Bergametti, F.2    Ayrignac, X.3    Boulday, G.4    Tournier-Lasserve, E.5
  • 49
    • 0030761145 scopus 로고    scopus 로고
    • Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22
    • Serebriiskii I., Estojak J, Sonoda G, Testa JR, Golemis EA. 1997. Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 15: 1043-1049.
    • (1997) Oncogene , vol.15 , pp. 1043-1049
    • Serebriiskii, I.1    Estojak, J.2    Sonoda, G.3    Testa, J.R.4    Golemis, E.A.5
  • 50
    • 0026668762 scopus 로고
    • Association between GTPase activators for Rho and Ras families
    • Settleman J., Albright CF, Foster LC, Weinberg RA. 1992a. Association between GTPase activators for Rho and Ras families. Nature 359: 153-154.
    • (1992) Nature , vol.359 , pp. 153-154
    • Settleman, J.1    Albright, C.F.2    Foster, L.C.3    Weinberg, R.A.4
  • 51
    • 0026740716 scopus 로고
    • Molecular cloning of cDNAs encoding the GAP-associated protein pp190: Implications for a signaling pathway from ras to the nucleus
    • Settleman J., Narasimhan V, Foster LC, Weinberg RA. 1992b. Molecular cloning of cDNAs encoding the GAP-associated protein pp190: Implications for a signaling pathway from ras to the nucleus. Cell 69: 539-549.
    • (1992) Cell , vol.69 , pp. 539-549
    • Settleman, J.1    Narasimhan, V.2    Foster, L.C.3    Weinberg, R.A.4
  • 53
    • 0043164827 scopus 로고    scopus 로고
    • Loss of distinct arterial and venous boundaries in mice lacking endoglin, a vascular-specific TGFβ coreceptor
    • Sorensen L.K., Brooke BS, LiDY, Urness LD. 2003. Loss of distinct arterial and venous boundaries in mice lacking endoglin, a vascular-specific TGFβ coreceptor. Dev Biol 261: 235-250.
    • (2003) Dev Biol , vol.261 , pp. 235-250
    • Sorensen, L.K.1    Brooke, B.S.2    Li, D.Y.3    Urness, L.D.4
  • 54
    • 77951044950 scopus 로고    scopus 로고
    • Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity
    • Stockton R.A., Shenkar R, Awad IA, Ginsberg MH. 2010. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med 207: 881-896.
    • (2010) J Exp Med , vol.207 , pp. 881-896
    • Stockton, R.A.1    Shenkar, R.2    Awad, I.A.3    Ginsberg, M.H.4
  • 55
    • 0018854117 scopus 로고
    • Balloon embolization for treatment of pulmonary arteriovenous fistulas
    • Terry P.B., Barth KH, Kaufman SL, White RI Jr. 1980. Balloon embolization for treatment of pulmonary arteriovenous fistulas. N Engl J Med 302: 1189-1190.
    • (1980) N Engl J Med , vol.302 , pp. 1189-1190
    • Terry, P.B.1    Barth, K.H.2    Kaufman, S.L.3    White Jr., R.I.4
  • 57
    • 0033757655 scopus 로고    scopus 로고
    • Arteriovenous malformations in mice lacking activin receptor-like kinase-1
    • Urness L.D., Sorensen LK, LiDY. 2000. Arteriovenous malformations in mice lacking activin receptor-like kinase-1. Nat Genet 26: 328-331.
    • (2000) Nat Genet , vol.26 , pp. 328-331
    • Urness, L.D.1    Sorensen, L.K.2    Li, D.Y.3
  • 59
    • 50249209093 scopus 로고
    • Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages
    • Weber FP. 1907. Multiple hereditary developmental angiomata (telangiectases) of the skin and mucous membranes associated with recurring haemorrhages. Lancet 2: 160-162.
    • (1907) Lancet , vol.2 , pp. 160-162
    • Weber, F.P.1
  • 62
    • 77955287380 scopus 로고    scopus 로고
    • CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations
    • Zheng X., Xu C, Di Lorenzo A, Kleaveland B, Zou Z, Seiler C, Chen M., Cheng L, Xiao J, He J, et al. 2010. CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations. J Clin Invest 120: 2795-2804.
    • (2010) J Clin Invest , vol.120 , pp. 2795-2804
    • Zheng, X.1    Xu, C.2    di Lorenzo, A.3    Kleaveland, B.4    Zou, Z.5    Seiler, C.6    Chen, M.7    Cheng, L.8    Xiao, J.9    He, J.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.