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4
a Respiratory
Medicine, Imperial College School of Medicine, National Heart and Lung
Institute, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK, b Cancer and Blood Programme,
The Hospital for Sick Children, 555 University Avenue, Toronto,
Ontario, M5G 1X8, Canada
Correspondence to: Dr C L Shovlin.
| The first 150 words of the full text of this article appear below. |
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Introduction |
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Hereditary haemorrhagic telangiectasia (HHT, Rendu-Osler-Weber
syndrome) exemplifies an important group of diseases which have
catalysed advances in the understanding of fundamental
pathophysiological mechanisms. In this paper areas of clinical
management of HHT are discussed and the molecular pathogenesis is
reviewed. The first section is aimed at all clinicians and concentrates
on the recognition of a disorder in which silent cerebral and pulmonary involvement may be life threatening if left untreated. Recent data
concerning the diagnostic and treatment modalities for pulmonary arteriovenous malformations (PAVMs) are also reviewed, and the growing
concern that many patients with HHT may have small or residual PAVMs is
highlighted. The paucity of good longitudinal data on these patients
and others with different forms of HHT highlights the need for further
clinical studies. In the second section the results of molecular
research which suggests a role for receptors and ligands of the
transforming growth factor (TGF)-
superfamily
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M. Guerrero-Esteo, T. Sanchez-Elsner, A. Letamendia, and C. Bernabeu Extracellular and Cytoplasmic Domains of Endoglin Interact with the Transforming Growth Factor-beta Receptors I and II J. Biol. Chem., August 2, 2002; 277(32): 29197 - 29209. [Abstract] [Full Text] [PDF]
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P. Gupta, C. Mordin, J. Curtis, J. M. B. Hughes, C. L. Shovlin, and J. E. Jackson Pulmonary Arteriovenous Malformations: Effect of Embolization on Right-to-Left Shunt, Hypoxemia, and Exercise Tolerance in 66 Patients Am. J. Roentgenol., August 1, 2002; 179(2): 347 - 355. [Abstract] [Full Text] [PDF]
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 R. C. Trembath, J. R. Thomson, R. D. Machado, N. V. Morgan, C. Atkinson, I. Winship, G. Simonneau, N. Galie, J. E. Loyd, M. Humbert, et al. Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia N. Engl. J. Med., August 2, 2001; 345(5): 325 - 334. [Abstract] [Full Text] [PDF]
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 M.-E. Paquet, N. Pece-Barbara, S. Vera, U. Cymerman, A. Karabegovic, C. Shovlin, and M. Letarte Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function Hum. Mol. Genet., June 1, 2001; 10(13): 1347 - 1357. [Abstract] [Full Text] [PDF]
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 A. Bourdeau, M. E. Faughnan, M.-L. McDonald, A. D. Paterson, I. R. Wanless, and M. Letarte Potential Role of Modifier Genes Influencing Transforming Growth Factor-{beta}1 Levels in the Development of Vascular Defects in Endoglin Heterozygous Mice with Hereditary Hemorrhagic Telangiectasia Am. J. Pathol., June 1, 2001; 158(6): 2011 - 2020. [Abstract] [Full Text] [PDF]
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 X. Ma, M. Labinaz, J. Goldstein, H. Miller, W. J. Keon, M. Letarte, and E. O'Brien Endoglin Is Overexpressed After Arterial Injury and Is Required for Transforming Growth Factor-{beta}-Induced Inhibition of Smooth Muscle Cell Migration Arterioscler. Thromb. Vasc. Biol., December 1, 2000; 20(12): 2546 - 2552. [Abstract] [Full Text] [PDF]
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M. Moussouttas, P. Fayad, M. Rosenblatt, M. Hashimoto, J. Pollak, K. Henderson, T. Y.- Z. Ma, and R. I. White Pulmonary arteriovenous malformations: Cerebral ischemia and neurologic manifestations Neurology, October 10, 2000; 55(7): 959 - 964. [Abstract] [Full Text] [PDF]
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G M F Wallace and C L Shovlin A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1 Thorax, August 1, 2000; 55(8): 685 - 690. [Abstract] [Full Text]
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S. A. Abdalla, N. Pece-Barbara, S. Vera, E. Tapia, E. Paez, C. Bernabeu, and M. Letarte Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2 Hum. Mol. Genet., May 1, 2000; 9(8): 1227 - 1237. [Abstract] [Full Text] [PDF]
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A. Bourdeau, U. Cymerman, M.-E. Paquet, W. Meschino, W. C. McKinnon, A. E. Guttmacher, L. Becker, and M. Letarte Endoglin Expression Is Reduced in Normal Vessels but Still Detectable in Arteriovenous Malformations of Patients with Hereditary Hemorrhagic Telangiectasia Type 1 Am. J. Pathol., March 1, 2000; 156(3): 911 - 923. [Abstract] [Full Text] [PDF]
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