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Volumn 100, Issue 10, 1997, Pages 2568-2579

Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative

Author keywords

Arteriovenous malformations; Hereditary diseases; Monocytes; Transforming growth factor beta receptors; Vascular endothelium

Indexed keywords

ENDOGLIN; MUTANT PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA1;

EID: 0030781148     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119800     Document Type: Article
Times cited : (136)

References (57)
  • 2
    • 0024394433 scopus 로고
    • Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
    • Plauchu, H., J.-P. de Chadaverian, A. Bideau, and J.-M. Robert. 1989. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am. J. Med. Genet. 32:291-297.
    • (1989) Am. J. Med. Genet. , vol.32 , pp. 291-297
    • Plauchu, H.1    De Chadaverian, J.-P.2    Bideau, A.3    Robert, J.-M.4
  • 3
    • 0025129826 scopus 로고
    • Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia
    • Braverman, I.M., A. Keh, and B.S. Jacobson. 1990. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J. Investig. Dermatol. 95:422-427.
    • (1990) J. Investig. Dermatol. , vol.95 , pp. 422-427
    • Braverman, I.M.1    Keh, A.2    Jacobson, B.S.3
  • 5
  • 6
    • 0028227643 scopus 로고
    • Vascular malformations of the brain in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)
    • Kikuchi, K., M. Kowada, and H. Sasajima. 1994. Vascular malformations of the brain in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Surg. Neurol. 41:374-380.
    • (1994) Surg. Neurol. , vol.41 , pp. 374-380
    • Kikuchi, K.1    Kowada, M.2    Sasajima, H.3
  • 19
    • 0030047241 scopus 로고    scopus 로고
    • Clinical heterogeneity in hereditary haemorrhagic telangiectasia: Are pulmonary arteriovenous malformations more common in families linked to endoglin?
    • Berg, J.N., A.E. Guttmacher, D.A. Marchuk, and M.E.M. Porteous. 1996. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J. Med. Genet. 33:256-257.
    • (1996) J. Med. Genet. , vol.33 , pp. 256-257
    • Berg, J.N.1    Guttmacher, A.E.2    Marchuk, D.A.3    Porteous, M.E.M.4
  • 20
    • 0025310515 scopus 로고
    • Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells
    • Gougos, A., and M. Letarte. 1990. Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J. Biol. Chem. 265: 8361-8364.
    • (1990) J. Biol. Chem. , vol.265 , pp. 8361-8364
    • Gougos, A.1    Letarte, M.2
  • 22
    • 0026646785 scopus 로고
    • Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells
    • Cheifetz, S., T. Bellón, C. Calés, S. Vera, C Bernabeu, J. Massagué, and M. Letarte. 1992. Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells. J. Biol. Chem. 267:19027-19030.
    • (1992) J. Biol. Chem. , vol.267 , pp. 19027-19030
    • Cheifetz, S.1    Bellón, T.2    Calés, C.3    Vera, S.4    Bernabeu, C.5    Massagué, J.6    Letarte, M.7
  • 23
    • 0030071563 scopus 로고    scopus 로고
    • Endoglin is a component of the TGF-β receptor complex of human pre-B leukemic cells
    • Zhang, H. W., A.R.E. Shaw, A. Mak, and M. Letarte. 1996. Endoglin is a component of the TGF-β receptor complex of human pre-B leukemic cells. J. Immunol. 156:565-573.
    • (1996) J. Immunol. , vol.156 , pp. 565-573
    • Zhang, H.W.1    Shaw, A.R.E.2    Mak, A.3    Letarte, M.4
  • 25
    • 0025940987 scopus 로고
    • Endothelial cell regulation by TGF-beta
    • RayChaudury, A., and P.A. D'Amore. 1991. Endothelial cell regulation by TGF-beta. J. Cell. Biochem. 47:224-229.
    • (1991) J. Cell. Biochem. , vol.47 , pp. 224-229
    • RayChaudury, A.1    D'Amore, P.A.2
  • 26
    • 0030448814 scopus 로고    scopus 로고
    • Blood vessel formation: What is its molecular basis?
    • Folkman, J., and P.A. D'Amore. 1996. Blood vessel formation: what is its molecular basis? Cell. 87:1153-1155.
    • (1996) Cell , vol.87 , pp. 1153-1155
    • Folkman, J.1    D'Amore, P.A.2
  • 28
  • 29
    • 16044369574 scopus 로고    scopus 로고
    • MADR2 maps to 18q21 and encodes a TGFβ-regulated MAD-related protein that is functionally mutated in colorectat carcinoma
    • Eppert, K., S.W. Sherer, H. Ozcelik, R. Pirone, P. Hoodless, H. Kim, L.C. Tsui, B. Bapat, S. Gallinger, I.L. Andrulis, et al. 1996. MADR2 maps to 18q21 and encodes a TGFβ-regulated MAD-related protein that is functionally mutated in colorectat carcinoma. Cell. 86:543-552.
    • (1996) Cell , vol.86 , pp. 543-552
    • Eppert, K.1    Sherer, S.W.2    Ozcelik, H.3    Pirone, R.4    Hoodless, P.5    Kim, H.6    Tsui, L.C.7    Bapat, B.8    Gallinger, S.9    Andrulis, I.L.10
  • 31
    • 0030300115 scopus 로고    scopus 로고
    • MADR2 is a substrate of the TGFβ receptor and its phosphorylation is required for nuclear accumulation and signalling
    • Macías-Silva, M., S. Abdollah, P.A. Hoodless, R. Pirone, L. Attisano, and J.L. Wrana. 1996. MADR2 is a substrate of the TGFβ receptor and its phosphorylation is required for nuclear accumulation and signalling. Cell. 87: 1215-1224.
    • (1996) Cell , vol.87 , pp. 1215-1224
    • Macías-Silva, M.1    Abdollah, S.2    Hoodless, P.A.3    Pirone, R.4    Attisano, L.5    Wrana, J.L.6
  • 33
    • 0027525105 scopus 로고
    • Identification of human activin and TGF-β type I receptors that form heteromeric kinase complexes with type II receptors
    • Attisano, L., J. Cárcamo, F. Ventura, F.M.B. Weis, J. Massagué, and J.L. Wrana. 1993. Identification of human activin and TGF-β type I receptors that form heteromeric kinase complexes with type II receptors. Cell. 75:671-680.
    • (1993) Cell , vol.75 , pp. 671-680
    • Attisano, L.1    Cárcamo, J.2    Ventura, F.3    Weis, F.M.B.4    Massagué, J.5    Wrana, J.L.6
  • 35
    • 0028786163 scopus 로고
    • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
    • McAllister, K.A., M.A. Baldwin, A.K. Thukkani, C.J. Gallione, J.N. Berg, M.E. Porteus, A.E. Guttmacher, and D.A. Marchuk. 1995. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. Hum. Mol. Genet. 4: 1983-1985.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1983-1985
    • McAllister, K.A.1    Baldwin, M.A.2    Thukkani, A.K.3    Gallione, C.J.4    Berg, J.N.5    Porteus, M.E.6    Guttmacher, A.E.7    Marchuk, D.A.8
  • 36
    • 0031045556 scopus 로고    scopus 로고
    • A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia
    • Yamaguchi, H., H. Azuma, T. Shigekiyo, and H. Inoue. 1997. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb. Haemostasis. 77:243-247.
    • (1997) Thromb. Haemostasis , vol.77 , pp. 243-247
    • Yamaguchi, H.1    Azuma, H.2    Shigekiyo, T.3    Inoue, H.4
  • 37
    • 0023784185 scopus 로고
    • Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line
    • Gougos, A., and M. Letarte. 1988. Identification of a human endothelial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line. J. Immunol. 141:1925-1933.
    • (1988) J. Immunol. , vol.141 , pp. 1925-1933
    • Gougos, A.1    Letarte, M.2
  • 39
    • 0028231917 scopus 로고
    • Molecular characterization and m situ localization of murine endoglin reveal that it is a transforming growth factor-β binding protein of endothelial and stromal cells
    • St-Jacques, S., U. Cymerman, N. Pece, and M. Letarte. 1994. Molecular characterization and m situ localization of murine endoglin reveal that it is a transforming growth factor-β binding protein of endothelial and stromal cells. Endocrinology. 134:2645-2657.
    • (1994) Endocrinology , vol.134 , pp. 2645-2657
    • St-Jacques, S.1    Cymerman, U.2    Pece, N.3    Letarte, M.4
  • 40
    • 0027259431 scopus 로고
    • Identification and expression of two forms of the human transforming growth factor-β-binding protein endoglin with distinct cytoplasmic regions
    • Bellón, T., A. Corbi, P. Lastres, C. Calés, M. Cebrián, S. Vera, M. Chefeitz, J. Massagué, M. Letarte, and C. Bernabeu. 1993. Identification and expression of two forms of the human transforming growth factor-β-binding protein endoglin with distinct cytoplasmic regions. Eur. J. Immunol. 23:2340-2345.
    • (1993) Eur. J. Immunol. , vol.23 , pp. 2340-2345
    • Bellón, T.1    Corbi, A.2    Lastres, P.3    Calés, C.4    Cebrián, M.5    Vera, S.6    Chefeitz, M.7    Massagué, J.8    Letarte, M.9    Bernabeu, C.10
  • 42
    • 0021912390 scopus 로고
    • Identification of several cell surface proteins of non-T, non-B acute lymphoblastic leukemia by using monoclonal antibodies
    • Quackenbush, E.J., and M. Letarte. 1985. Identification of several cell surface proteins of non-T, non-B acute lymphoblastic leukemia by using monoclonal antibodies. J. Immunol. 134:1276-1285.
    • (1985) J. Immunol. , vol.134 , pp. 1276-1285
    • Quackenbush, E.J.1    Letarte, M.2
  • 43
    • 0023793521 scopus 로고
    • Biochemical characterization of the 44G4 antigen from the HOON pre-B leukemic cell line
    • Gougos, A., and M. Letarte. 1988. Biochemical characterization of the 44G4 antigen from the HOON pre-B leukemic cell line. J. Immunol. 141:1934-1940.
    • (1988) J. Immunol. , vol.141 , pp. 1934-1940
    • Gougos, A.1    Letarte, M.2
  • 44
    • 0002039717 scopus 로고
    • CD105 (endoglin) cluster report
    • S.F. Schlossman, L. Boumsell, W. Gilks, J. Harlan, T. Kishimoto, C. Morimoto, J. Ritz, S. Shaw, R. Silverstein, T. Springer, et al., editors. Oxford University Press, Oxford
    • Letarte, M., A. Greaves, and S. Vera. 1995. CD105 (endoglin) cluster report. In Leukocyte Typing V: White Cell Differentiation Antigens. S.F. Schlossman, L. Boumsell, W. Gilks, J. Harlan, T. Kishimoto, C. Morimoto, J. Ritz, S. Shaw, R. Silverstein, T. Springer, et al., editors. Oxford University Press, Oxford. 1756-1759.
    • (1995) Leukocyte Typing V: White Cell Differentiation Antigens , pp. 1756-1759
    • Letarte, M.1    Greaves, A.2    Vera, S.3
  • 46
    • 0030808710 scopus 로고    scopus 로고
    • Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments
    • Pichuantes, S., S. Vera, A. Bourdeau, N. Pece, S. Kumar, E.A. Wayner, and M. Letarte. 1997. Mapping epitopes to distinct regions of the extracellular domain of endoglin using bacterially expressed recombinant fragments. Tissue Antigens. 50:265-276.
    • (1997) Tissue Antigens , vol.50 , pp. 265-276
    • Pichuantes, S.1    Vera, S.2    Bourdeau, A.3    Pece, N.4    Kumar, S.5    Wayner, E.A.6    Letarte, M.7
  • 47
    • 0023575875 scopus 로고
    • Identification of receptors for type-β transforming growth factor
    • Massagué, J. 1987. Identification of receptors for type-β transforming growth factor. Methods Enzymol. 146:174-195.
    • (1987) Methods Enzymol. , vol.146 , pp. 174-195
    • Massagué, J.1
  • 48
    • 0027276765 scopus 로고
    • Betaglycan prsents ligand to the TGF-β signaling receptor
    • Löpez-Casillas, F., J.L. Wrana, and J. Massagué. 1993. Betaglycan prsents ligand to the TGF-β signaling receptor. Cell. 73:1435-1444.
    • (1993) Cell , vol.73 , pp. 1435-1444
    • Löpez-Casillas, F.1    Wrana, J.L.2    Massagué, J.3
  • 49
    • 0025714554 scopus 로고
    • Distinct transforming growth factor-β (TGF-β) receptor subsets as determinants of cellular responsiveness to three TGF-β isoforms
    • Cheifetz, S., H. Hernandez, M. Laiho, P. ten Dijke, K.K. Iwata, and J. Massagué. 1990. Distinct transforming growth factor-β (TGF-β) receptor subsets as determinants of cellular responsiveness to three TGF-β isoforms. J. Biol. Chem. 265:20533-20538.
    • (1990) J. Biol. Chem. , vol.265 , pp. 20533-20538
    • Cheifetz, S.1    Hernandez, H.2    Laiho, M.3    Ten Dijke, P.4    Iwata, K.K.5    Massagué, J.6
  • 50
    • 0023786978 scopus 로고
    • Comparison of the biological effects of TGF beta-1 and TGF beta-2: Differential activity in endothelial cells
    • Jennings, J.C., S. Mohan, T.A. Linkhart, R. Widstrom, and D.J. Baylink. 1988. Comparison of the biological effects of TGF beta-1 and TGF beta-2: differential activity in endothelial cells. J. Cell Physiol. 137:167-172.
    • (1988) J. Cell Physiol. , vol.137 , pp. 167-172
    • Jennings, J.C.1    Mohan, S.2    Linkhart, T.A.3    Widstrom, R.4    Baylink, D.J.5
  • 51
    • 0027368913 scopus 로고
    • Inhibition of vascular endothelial cell growth by activin-A
    • McCarthy, S.A., and R. Bicknell. 1993. Inhibition of vascular endothelial cell growth by activin-A. J. Biol. Chem. 268:23066-23071.
    • (1993) J. Biol. Chem. , vol.268 , pp. 23066-23071
    • McCarthy, S.A.1    Bicknell, R.2
  • 53
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro, M.B., and P. Senapathy. 1987. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:7155-7174.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 55
    • 0024448588 scopus 로고
    • Regulation of endothelial cell growth, architecture and matrix synthesis by TGF-β
    • Roberts, A.B., and M.B. Sporn. 1989. Regulation of endothelial cell growth, architecture and matrix synthesis by TGF-β. Am. Rev. Respir. Dis. 140: 1126-1128.
    • (1989) Am. Rev. Respir. Dis. , vol.140 , pp. 1126-1128
    • Roberts, A.B.1    Sporn, M.B.2
  • 56
    • 0029074681 scopus 로고
    • Defective haematopoiesis and vasculogenesis in transforming growth factor-β1 knock out mice
    • Dickson, M.C., J.S. Martin, F.M. Cousins, A.B. Kulkarni, S. Karlsson, and R.J. Akhurst. 1995. Defective haematopoiesis and vasculogenesis in transforming growth factor-β1 knock out mice. Development. 121:1845-1854.
    • (1995) Development , vol.121 , pp. 1845-1854
    • Dickson, M.C.1    Martin, J.S.2    Cousins, F.M.3    Kulkarni, A.B.4    Karlsson, S.5    Akhurst, R.J.6
  • 57
    • 0030878067 scopus 로고    scopus 로고
    • Molecular defects in rare bleeding disorders: Hereditary haemorrhagic telangiectasia
    • Shovlin, C.L. 1997. Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia. Thromb. Haemostasis. 78:145-150.
    • (1997) Thromb. Haemostasis , vol.78 , pp. 145-150
    • Shovlin, C.L.1


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