Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms

Thorax

Volumn 54, Issue 8, 1999, Pages 714-729

  Shovlin, Claire L ^a   Letarte, Michelle ^b  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOGLIN; TECHNETIUM 99M; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

ARTERIOVENOUS MALFORMATION; ARTIFICIAL EMBOLISM; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 9; CONTRAST ECHOCARDIOGRAPHY; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HEART OUTPUT; HUMAN; LUNG ANGIOGRAPHY; METHODOLOGY; MORBIDITY; MORTALITY; PATHOGENESIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RENDU OSLER WEBER DISEASE; REVIEW; THORAX RADIOGRAPHY; VASCULAR SURGERY;

EID: 0032799731     PISSN: 00406376     EISSN: None     Source Type: Journal    
DOI: 10.1136/thx.54.8.714     Document Type: Review

References (193)

1. 1 Haitjema T, Westermann CJJ, Overtoom TTC, et al. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med 1996;156:714-9.
2. 2 Guttmacher AE, Marchuk DA , White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918-24.
3. 3 Braverman IM, Keh A , Jacobson BS. Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. J Invest Dermatol 1990;95:422-7.
4. 4 McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet 1994;8:345-51.
5. 5 Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nature Genet 1996;13:189-95.
6. 6 Braverman IM , Keh-Yen A. Ultrastructure and three-dimensional reconstruction of several macular and papular telangiectases. J Invest Dermatol 1983;81:489-97.
7. 7 MacNee W, Buist T, Finlayson NDC, et al. Multiple microscopic pulmonary arteriovenous connections in the lungs presenting as cyanosis. Thorax 1985;40:316-8.
8. 8 Plauchu H, de Chadarévian J-P, Bideau A, et al. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989;32:291-7.
9. 9 Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet 1994;52:252-3.
10. 10 Jesserun GAJ, Kamphuis DJ, van der Zande FHR, et al. Cerebral arteriovenous malformations in the Netherlands Antilles: High prevalence of hereditary hemorrhagic telangiectasia-related single and multiple arteriovenous malformations. Clin Neurol Neurosurg 1993;95:193-8.
11. 11 Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Int Med 1999;245:31-9.
12. 12 Snyder LH, Doan CA. Clinical and experimental studies in human inheritance: is the homozygous form of multiple telangiectasia lethal? J Lab Clin Med 1944;29:1211-6.
13. 13 Higgins C, Wexler L. Clinical and angiographic features of pulmonary arteriovenous fistulas in children. Radiology 1976;119:171-5.
14. 14 Muller J-Y, Michailov T, Izrael V, et al. Maladie de Rendu-Osler dans une grande famille saharienne. La Nouvelle Presse Med 1978;7:1723-5.
15. 15 Vase P, Lorentzen M. Histological findings following oestrogen treatment of hereditary haemorrhagic telangiectasia. A controlled double-blind investigation. J Laryngol Otol 1983;97:427-9.
16. 16 Parkin JL, Dixon JA. Argon laser treatment of head and neck vascular lesions. Otolaryngol Head Neck Surg 1985;93: 211-6.
17. 17 Vickery CL, Kuhn FA. Using the KTP/532 laser to control epistaxis in patients with hereditary hemorrhagic telangiectasia. South Med J 1996;89:78-80.
18. 18 Shapshay SM, Oliver P. Treatment of hereditary hemorrhagic telangiectasia by Nd-YAG laser photocoagulation. Laryngoscope 1984;94:1554-6.
19. 19 Ulsø C, Vase P, Stoksted P. Long-term results of dermatoplasty in the treatment of hereditary haemorrhagic telangiectasia. J Laryngol Otol 1983;97:223-6.
20. 20 Halpern M, Turner AF, Citron BP. Hereditary hemorrhagic telangiectasia. An angiographic study of abdominal visceral angiodysplasias associated with gastrointestinal hemorrhage. Radiology 1968;90:1143-9.
21. 21 Van Cutsem E. Oestrogen-progesterone, a new therapy of bleeding gastrointestinal vascular malformations. Acta Gastro-Enterologica Belg 1993;56:2-10.
22. 22 Sargeant I, Loizou LR, Rampton DA, et al. Laser ablation of upper gastrointestinal vascular ectasias: long term results. Gut 1993;34:470-5.
23. 23 Kwaan HC, Astrup T. Demonstration of cellular fibrinolytic activity by the histochemical fibrin slide technique. Lab Invest 1967;17:140-5.
24. 24 Saba HI, Morelli GA, Logrono LA. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med 1994;330:1789-90.
25. 25 Korsenik JR, Topazion MD, White RI. Treatment of bleeding in hereditary hemorrhagic telangiectasia with aminocaproic acid. N Engl J Med 1994;331:1236.
26. 26 Childers RW, Ranniger K, Rabinowitz M. Intrahepatic arteriovenous fistula with pulmonary vascular obstruction in Osler-Rendu-Weber disease. Am J Med 1967;43:304-12.
27. 27 Caselitz M, Wagner S, Chavan A, et al. Clinical outcome of transfemoral embolisation in patients with arteriovenous malformations of the liver in hereditary haemorrhagic telangiectasia (Weber-Rendu-Osler disease). Gut 1998;42: 123-6.
28. 28 Bjøro K, Schrumpf E, Elgjo K, et al. Monstous ascites in hereditary haemorrhagic telangiectasia. Scand J Gastroenterol 1995;30:92-4.
29. 29 Okabe H, Ishibashi H, Kimura H, et al. Rendu-Osler-Weber disease with portosystemic encephalopathy. Jap J Med 1987;26:396-400.
30. 30 Buscarini E, Buscarini L, Civardi G, et al. Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: imaging findings. Am J Radiol 1994;163:1105-10.
31. 31 Göthlin JH, Nordgǎrd K, Jonsson K, et al. Hepatic telangiectasia in Osler's disease treated with arterial embolization. Report of two cases. Eur J Radiol 1982;2:27-30.
32. 32 Bourgeois N, Delcour C, Deviere J, et al. Osler-Weber-Rendu disease associated with hepatic involvement and high output heart failure. J Clin Gastroenterol 1990;12:236-8.
33. 33 Bauer T, Britton P, Lomas D, et al. Liver transplantation for hepatic arteriovenous malformation in hereditary haemorrhagic telangiectasia. J Hepatol 1995;22:586-90.
34. 34 Vase I, Vase P. Ocular lesions in hereditary haemorrhagic telangiectasia. Acta Ophthalmol 1979;57:1084-90.
35. 35 Brant AM, Schachat AP, White RI. Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Am J Ophthalmol 1989;107:642-6.
36. 36 Cooke DAP. Renal arteriovenous malformation demonstrated angiographically in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). J R Soc Med 1986;79:744-6.
37. 37 Kurnik PB, Heymann WR. Coronary artery ectasia associated with hereditary hemorrhagic telangiectasia. Arch Intern Med 1989;149:2357-9.
38. 38 Hieshima GB, Cahan LD, Berlin MS, et al. Calvarial, orbital and dural vascular anomalies in hereditary hemorrhagic telangiectasia. Surg Neurol 1977;8:263-7.
39. 39 Forker EL, Bean WB. Retinal arteriovenous ancurysm in hereditary hemorrhagic telangiectasia. Arch Intern Med 1963;111:778-83.
40. 40 Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet (in press).
41. 41 Suresh CG, Coupe MO, Jegarajah S. Recurrent cerebral abscesses 20 years before recognition of multiple pulmonary arteriovenous malformations. Br J Clin Pract 1995;49: 105-6.
42. 42 Haitjema T, Disch F, Overtoom TTC, et al. Screening family members of patients with hereditary hemorrhagic telangiectasia. Am J Med 1995;99:519-24.
43. 43 Pikus HJ, Beach ML, Harbaugh RE. Microsurgical treatment of arteriovenous malformations: analysis and comparison with stereotactic radiosurgery. J Neurosurg 1998;88:641-6.
44. 44 Turjman F, Massoud TF, Viñucla F, et al. Correlation of the angioarchitectural features of cerebral arteriovenous malformations with clinical presentation of hemorrhage. Neurosurgery 1995;37:856-62.
45. 45 Willinsky RA, Lasjaunias P, Terbrugge K, et al. Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 1990;32:207-10.
46. 46 Ter Berg JWM, Dippel DWJ, Habbema JDF, et al. Unruptured intracranial arteriovenous malformations with hereditary haemorrhagic telangiectasia. Neurosurgical treatment or not? Acta Neurochir (Wien) 1993;121:34-42.
47. 47 Ter Berg JWM, Overtoom TMD, Ludwig J, et al. Detection of unruptured familial intracranial ancurysms by intravenous digital subtraction angiography. Screening of two affected families. Neuroradiology 1987;29:272-6.
48. 48 Cooley DA, McNamara DG. Pulmonary telangiectasia: report of a case proven by pulmonary biopsy. J Thorac Surg 1954;27:614-622.
49. 49 Hales MR. Multiple small arteriovenous fistulas of the lungs. Am J Pathol 1956;32:927-43.
50. 50 Bosher LH, Blake A, Byrd BR. An analysis of the pathologic anatomy of pulmonary arteriovenous aneurysms with particular reference to the applicability of local excision. Surgery 1959;45:91-104.
51. 51 Anabtawi IAN, Ellison RG, Ellison LT. Pulmonary arteriovenous ancurysms and fistulas. Ann Thorac Surg 1965;1: 277-85.
52. 52 Dines DE, Arms RA, Bernatz PE, et al. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1974;49:460-5.
53. 53 White RI, Lynch-Nyhan A, Terry P, et al. Pulmonary arteriovenous malformations: techniques and long-term outcomes of embolotherapy. Radiology 1988;169:663-9.
54. 54 Hughes JMB. Intrapulmonary shunts: coils to transplantation. J R Coll Phys 1994;28:247-53.
55. 55 Dines DE, Seward JB, Bernatz PE. Pulmonary arteriovenous fistulas. Mayo Clin Proc 1983;58:176-81.
56. 56 Sluiter-Eringa H, Orie NGM, Sluiter HJ. Pulmonary arteriovenous fistula. Diagnosis and prognosis in noncomplainant patients. Am Rev Respir Dis 1969;100:177-88.
57. 57 Vase P, Holm M, Arendrup H. Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia. Acta Med Scand 1985;218:105-9.
58. 58 Stringer CJ, Stanley AL, Bates RC, et al. Pulmonary arteriovenous fistula. Am J Surg 1955;89:1054-80.
59. 59 Gomes MR, Bernatz PE, Dines DE. Pulmonary arteriovenous fistulas. Ann Thorac Surg 1969;7:582-93.
60. 60 Muri JW. Arteriovenous aneurysm of the lung. Am J Surg 1955;89:265-71.
61. 61 Burke CM, Safai C, Nelson DP, et al. Pulmonary arteriovenous malformations: a critical update. Am Rev Respir Dis 1986;134:334-9.
62. 62 Ference BA, Shannon TM, White RI, et al. Life threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest 1994;106:1387-92.
63. 63 Shovlin CL, Winstock AR, Peters AM, et al. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. Q J Med 1995;88:879-87.
64. 64 Waldhausen JA, Abel FL. The circulatory effects of pulmonary arteriovenous fistulas. Surgery 1966;59:76-80.
65. 65 Andrivet P, Lofaso F, Carette M-F, et al. Haemodynamics and gas exchange before and after coil embolization of pulmonary arteriovenous malformations. Eur Respir J 1995;8: 1228-30.
66. 66 Moyer JH, Glantz G, Brest AN. Pulmonary arteriovenous fistulas. Physiologic and clinical considerations. Am J Med 1948;32:417-35.
67. 67 Whyte MKB, Hughes JMB, Jackson JE, et al. Cardiopulmonary response to exercise in patients with intrapulmonary vascular shunts. J Appl Physiol 1993;75:321-8.
68. 68 Román G, Fisher M, Perl DP, et al. Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of 2 cases and review of the literature. Ann Neurol 1978;4:130-44.
69. 69 Press OW, Ramsey PG. Central nervous system infections associated with hereditary hemorrhagic telangiectasia. Am J Med 1984;77:86-92.
70. 70 Yater WM, Finnegan J, Giffin HM. Pulmonary arteriovenous fistula (varix). JAMA 1949;141:581-9.
71. 71 Shumacker HB, Waldhausen JA. Pulmonary arteriovenous fistulas in children. Ann Surg 1963;158:713-20.
72. 72 Terry PB, White RI, Barth KH, et al. Pulmonary arteriovenous malformations: physiologic observations and results of balloon embolisation. N Engl J Med 1983;308: 1197-200.
73. 73 Pennington DW, Gold WM, Gordon RL, et al. Treatment of pulmonary arteriovenous malformations by therapeutic embolization. Am Rev Respir Dis 1992;145:1047-51.
74. 74 Puskas JD, Allen MS, Moncure AC, et al. Pulmonary arteriovenous malformations: therapeutic options. Ann Thorac Surg 1993;56:253-8.
75. 75 Dutton JAE, Jackson JE, Hughes JMB, et al. Pulmonary arteriovenous malformations: results of treatment with coil embolisation in 53 patients. AJR 1995;165:1119-25.
76. 76 Haitjema TJ, Overtoom TTC, Westermann CJJ, et al. Embolisation of pulmonary arteriovenous malformations: results and follow-up in 32 patients. Thorax 1995;50:719-23.
77. 77 Sagara K, Miyazono N, Inoue H, et al. Recanalization after coil embolotherapy of pulmonary arteriovenous malformations: study of long term outcome and mechanism for recanalization. AJR 1998;170:727-30.
78. 78 Lee DW, White RI, Egglin TK, et al. Embolotherapy of large pulmonary arteriovenous malformations: long-term results. Ann Thorac Surg 1997;64:930-40.
79. 79 Lincoln MJ, Shigcoka JW. Pulmonary telangiectasia without hypoxemia. Chest 1988;93:1097-8.
80. 80 Stork WJ. Pulmonary arteriovenous fistulas. AJR 1955;74: 441-54.
81. 81 Martinez FJ, Villanueva A, Pickering R, et al. Spontaneous hemothorax. Report of six cases and review of the literature. Medicine 1992;71:354-68.
82. 82 Jackson JE, Whyte MKB, Allison DJ, et al. Coil embolization of pulmonary arteriovenous malformations. Cor Vasa 1990;32:191-6.
83. 83 Swanson DL, Dahl MV. Embolic abscesses in hereditary hemorrhagic telangiectasia. J Am Acad Dermatol 1991;24: 580-3.
84. 84 Mohler ER, Monahan B, Canty MD, et al. Cerebral abscess associated with dental procedure in hereditary haemorrhagic telangiectasia. Lancet 1991;338:508-9.
85. 85 Chan P. Antibiotic prophylaxis for patients with hereditary hemorrhagic telangiectasia. J Am Acad Dermatol 1992;26: 282-3.
86. 86 Lindskog GE, Liebow A, Kausel H, et al. Pulmonary arteriovenous aneurysm. Ann Surg 1950;132:591-610.
87. 87 Andersen PE, Kjeldsen AD, Oxhøj H, et al. Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol 1998;39:723-6.
88. 88 Remy J, Remy-Jardin M, Wattinne L, et al. Pulmonary arteriovenous malformations: evaluation with CT of the chest before and after treatment. Radiology 1992;182:809-16.
89. 89 Thompson RD, Jackson J, Peters AM, et al. Sensitivity and specificity of radioisotope right-left shunt measurements and pulse oximetry for the early detection of pulmonary arteriovenous malformations. Chest 1999;115:109-13.
90. 90 Kjeldsen A. Epidemiology and clinical aspects of hereditary haemorrhagic telangiectasia. PhD thesis, Odense, 1997.
91. 91 Robin ED, Laman D, Horn BR, et al. Platypnea related to orthodeoxia caused by true vascular lung shunts. N Engl J Med 1976;294:941-3.
92. 99mTc-MAA shunt estimations in patients with pulmonary arteriovenous malformations: effects of changes in posture and lung volume. Thorax 1994;49:327-31.
93. 93 Chilvers ER, Whyte MKB, Jackson JE, et al. Effect of percutaneous transcatheter embolization on pulmonary function, right-to-left shunt, and arterial oxygenation in patients with pulmonary arteriovenous malformations. Am Rev Respir Dis 1990;142:420-5.
94. 94 Nickerson BG, Sarkísian C, Tremper K. Bias and precision of pulse oximeters and arterial oximeters. Chest 1988;93: 515-7.
95. 95 Tweeddale PM, Douglas NJ. Accuracy of Biox IIA ear oximeter. Thorax 1981;36:708-9.
96. 96 Remy J, Remy-Jardin M, Giraud F, et al. Angioarchitecture of pulmonary arteriovenous malformations: clinical utility of three-dimensional helical CT. Radiology 1994;191:657-64.
97. 97 Halbsguth A, Schulze W, Ungeheuer E, et al. Pitfalls in the CT diagnosis of pulmonary arteriovenous malformations. J Comput Assist Tomogr 1983;7:710-2.
98. 98 Gutierrez FR, Glazer HS, Levitt RG, et al. NMR imaging of pulmonary arteriovenous fistulae. J Comput Assist Tomogr 1984;8:750-2.
99. 99 Berggren SM. The oxygen deficit of arterial blood caused by non-ventilating parts of the lung. Acta Physiol Scand 1942; 4(suppl II):7-92.
100. 100 Mellerngaard K, Lassen NA, Georg J. Right-to-left shunt in normal man determined by the use of tritium and krypton 85. J Appl Physiol 1962;17:778-82.
101. 101 Genovesi MG, Tierney DF, Taplin GV, et al. An intravenous radionuclide method to evaluate hypoxemia caused by abnormal alveolar vessels: limitation of conventional techniques. Am Rev Respir Dis 1976;114:56-65.
102. 102 Strauss HW, Hurley PJ, Rhodes BA, et al. Quantification of right-to-left transpulmonary shunts in man. J Lab Clin Med 1969;74:597-607.
103. m albumin microspheres. Clin Radiol 1988;39:611-4.
104. 104 Shub C, Tajik AJ, Seward JB, et al. Detecting intrapulmonary right-to-left shunt with contrast echocardiography. Mayo Clin Proc 1976;51:81-4.
105. 105 Barzilai R, Waggoner AD, Spessert C, et al. Two-dimensional contrast echocardiography in the detection and follow-up of congenital pulmonary aerteiovenous malformations. Am J Cardiol 1991;68:1507-10.
106. 106 Shovlin CL, Hughes JMB. Hereditary hemorrhagic telangiectasia. N Engl J Med 1996;334:330-1.
107. 107 Kjeldsen A, Vase P, Oxhoj H. Hereditary haemorrhagic telangiectasia. N Engl J Med 1996;334:331.
108. 108 Hughes JMB, Shovlin CL, Simonds AK. Pulmonary disease and cor pulmonale . In: Oakley C, ed. Heart disease in pregnancy, London: BMJ Publishing Group, 1997: 180-200.
109. 109 Shovlin CL, Hughes JMB, Scott J, et al. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Human Genet 1997; 61:68-79.
110. 110 Porstmann W. Therapeutic embolization of arteriovenous pulmonary fistulas by catheter technique. In: Kelop O, ed. Current concepts in pediatric radiology. Berlin: Springer, 1977:23-31.
111. 111 Taylor BG, Cockerill EM, Manfredi F, et al. Therapeutic embolization of the pulmonary artery in pulmonary arteriovenous fistula. Am J Med 1978;64:360-5.
112. 112 Trell E. Pulmonary hypertension in congenital shunt lesions. Observations in a right heart catheterization material, with particular reference to occurrence, natural history and prognostic implications in adolescence and adulthood. Acta Med Scand 1972;S535:3-26.
113. 113 le Roux BT, Gibb BH, Wainwright J. Pulmonary arteriovenous fistula with bilharzial pulmonry hypertension. Br Heart J 1970;32:571-4.
114. 114 Hartnell GG, Allison DT. Coil embolization in the treatment of arteriovenous malformations. J Thorac Imaging 1989;4:81-5.
115. 115 White RJ, Pollack JS, Wirth JA. Pulmonary arteriovenous malformations: diagnosis and transcatheter embolotherapy. J Vasc Intervent Radiol 1996;7:787-804.
116. 116 Remy-Jardin M, Wattinne L, Remy J. Transcatheter occlusion of pulmonary arterial circulation and collateral supply: failures, incidents, and complications. Radiology 1991;180: 699-705.
117. 117 Pollak JS, Egglin TK, Rosenblatt MM, et al. Clinical results of transvenous systemic embolotherapy with a neuroradioiogic detachable balloon. Radiology 1994;191:477-82.
118. 118 Barth KH, White RI, Kaufman SL, et al. Embolotherapy of pulmonary arteriovenous malformations with detachable balloons. Radiology 1982;142:599-606.
119. 119 Hughes JMB, Allison DJ. Pulmonary arteriovenous malformations: the radiologist replaces the surgeon. Clin Radiol 1990;41:297-8.
120. 120 Watanabe N, Munakata Y, Ogiwara M, et al. A case of pulmonary arteriovenous malformation in a patient with brain abscess successfully treated with video-assisted thoracoscopic resection. Chest 1995;108:1724-7.
121. 121 White RI, Pollak JS, Pulmonary arteriovenous malformations: diagnosis by three-dimensional helical CT, a breakthrough without contrast media. Radiology 1994; 191:613-4.
122. 122 Shovlin CL, Hughes JMB, Tuddenham EGD, et al. A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3. Nature Genet 1994;6:205-9.
123. 123 McDonald MT, Papenberg KA, Ghosh S, et al. A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nature Genet 1994;6:197-204.
124. 124 Vincent P, Plauchu H, Hazan J, et al. A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995;4:945-9.
125. 125 Johnson DW, Berg JN, Gallione CJ, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-8.
126. 126 Piantanida M, Buscarini E, Dellavecchia C, et al. Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2. J Med Genet 1996;33:441-3.
127. 127 McAllister KA, Baldwin MA, Thukkani AK, et al. Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia typt I suggest a dominant-negative effect of receptor function. Hum Mol Genet 1995;4:1983-5.
128. 128 Pece N, Vera S, Cymerman U, et al. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. J Clin Invest 1997;100:2568-79.
129. 129 Yamaguchi H, Azuma H, Shigekiyo T, et al. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb Haem 1997;77:243-7.
130. 130 Gallione CJ, Klaus DJ, Yeh EY, et al. Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals new alleles. Human Mutat 1998;11:286-94.
131. 131 Lastres P, Martin-Perez J, Langa C, et al. Regulated expression on human macrophages of endoglin, an Arg-Gly-Asp-containing surface antigen. Eur J Immunol 1992;22:393-7.
132. 132 Bourdeau A, Paquet M-E, Meschino W, et al. Endoglin expression is reduced on normal vessels but still detectable on cerebral arteriovenous malformations in a newborn diagnosed with hereditary haemorrhagic telangiectasia type I, Submitted for publication.
133. 133 Berg JN, Gallione CJ, Stenzel TJ, et al. The activin receptor-like kinase 1 gene; genomic structure and mutations in hereditary haemorrhagic telangiectasia. Am J Hum Genet 1997;61:60-7.
134. 134 Klaus DJ, Gallione CJ, Anthony K, et al. Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia, Human Mutation, Mutations in Brief Online 1998;#164.
135. 135 Lesser BA, Wendt D, Miks VM, et al. Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations. Am J Med 1986;81:931-4.
136. 136 King CR, Lovrien EW, Reiss J. Central nervous system arteriovenous malformations in multiple generations of a family with hereditary hemorrhagic telangiectasia. Clin Genet 1977;12:372-81.
137. 137 Heutink P, Haitjema T, Breedveld GJ, et al. Linkage of hereditary haemorrhagic telangiectasia to 9q34 and evidence for locus heterogeneity. J Med Genet 1994;31: 933-6.
138. 138 McAllister KA, Lennon F, Bowles-Biesecker B, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. J Med Genet 1994;31:927-32.
139. 139 Porteous MEM, Curtis A, Williams O, et al. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet 1994;31:925-6.
140. 140 Berg JN, Guttmacher AE, Marchuk DA, et al. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? J Med Genet 1996;33:256-7.
141. 141 Shovlin CL, Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia. Thromb Haem 1997;78:145-50.
142. 142 Martini GA. The liver in hereditary haemorrhagic teleangiectasia: an inborn error of vascular structure with multiple manifestations: a reappraisal. Gut 1978;19:531-7.
143. 143 Graf C, Perrett G, Torner J. Bleeding from cerebral arteriovenous malformations as part of their natural history. J Neurosurg 1983;58:331-7.
144. 144 Richtsmeier W, Weaver G, Streck W, et al. Estrogen and progesterone receptors in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 1984;92:564-70.
145. 145 Chow L-C, Chow W-H , Ma K-F. Pulmonary arteriovenous malformation. Progressive enlargement with replacement of the entire right middle lobe in a patient with concomitant mitral stenosis. Med J Aust 1993;158:632-4.
146. 146 Hughes JMB. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia. Sem Respir Crit Care Med 1998;19:79-89.
147. 147 Bean W. Notes on the natural history of vascular spiders in healthy persons. Arch Intern Med 1960;106:35-8.
148. 148 Moyer J, Ackerman A. Hereditary hemorrhagic telangiectases associated with pulmonary arteriovenous fistula in two members of one family. Ann Intern Med 1948;29:775-802.
149. 149 Massague J. TGFβ signaling: receptors, transducers and MAD proteins. Cell 1996;85:947-50.
150. 150 Heldin C-H, Miyazono K, ten Dijke P. TGF-β signalling from cell membrane to nucleus through SMAD proteins. Nature 1997;390:465-71.
151. 151 Artisano L, Carcamo J, Ventura F, et al. Identification of human activin and TGFβ type I receptors that form heterotrimeric complexes with type II receptors. Cell 1993;75: 671-80.
152. 152 ten Dijke P, Ichijo H, Franzen P, et al. Activin receptor-like kinases: a novel subclass of cell-surface receptos with predicted serine/threonine kinase activity. Oncogene 1993;8: 2879-87.
153. 153 ten Dijke P, Yamashita H, Ichijo H, et al. Characterization of type I receptors for transforming growth factor-β and activin. Science 1994;264:101-3.
154. 154 Macias-Silva M, Hoodless PA, Tang S, et al. Specific activation of Smad1 signalling pathways by the BMP7 type I receptor, ALK2. J Biol Chem 1998;273:25628-36.
155. 155 Panchenko M, Mikhail P, Williams MC, et al. Type I receptor serine-threonine kinase preferentially expressed in pulmonary blood vessels. Am J Physiol 1996;270:L547-58.
156. 156 Wu X, Robinson C, Fong H, et al. Cloning and characterisation of the murine activin receptor like kinase-1 (ALK-1) homolog. Biochem Biophys Res Commun 1995;216:78-83.
157. 157 Roelen B, van Rooijen M, Mummery C. Expression of ALK-1 , a type 1 serine/threonine kinase receptor, coincides with sites of vasculogenesis and angiogenesis in early mouse development. Developmental Dynamics 1997;209: 418-30.
158. 158 Dickson K, Philip A, Warshawsky H, et al. Specific binding of endocrine transforming growth factor-βI to vascular endothelium. J Clin Invest 1995;95:2539-54.
159. 159 Quackenbush EJ, Letarte M. Identification of several cell surface proteins of non-T, non-B acute lymphoblastic leukemia by using monoclonal antibodies. J Immunol 1985; 134:1276-85.
160. 160 Gougos A, Letarte M. Identification of a human endothetial cell antigen with monoclonal antibody 44G4 produced against a pre-B leukemic cell line. J Immunol 1988;141: 1925-33.
161. 161 Letarte M, Greaves A, Vera S. CD105 (endoglin) cluster report. In: Schlossman S et al, eds, Leukocyte typing V: White cell differentiation antigens. Oxford: Oxford University Press, 1995;1756-9.
162. 162 Bühring H-J, Müller CA, Letarte M, et al. Endoglin is expressed on a subpopulation of immature erythroid cells of normal human bone marrow. Leukemia 1991;5:841-7.
163. 163 Qu R, Silver M , Letarte M. Distribution of endoglin in early human development reveals high levels on endocardial cushion tissue mesenchyme during valve formation. Cell Tissue Res 1998;292:333-43.
164. 164 St-Jacques S, Forte M, Lye SJ, et al. Localization of endoglin, a transforming growth factor-β binding protein, and of CD44 and integrins in placenta during the first trimester of pregnancy. Biol Reprod 1994;51:405-13.
165. 165 Adam PJ, Clesham GJ, Weissberg PL. Expression of endoglin mRNA and protein in human vascular smooth muscle cells. Biochem Biophys Res Commun 1998;247:33-7.
166. 166 Thorpe PE, Burrows FJ. Antibody-directed targeting of the vasculature of solid tumors. Breast Cancer Res Treat 1995;36:237-51.
167. 167 Wang JM, Kumar S, van Agthoven AJ, et al. Irradiation induces up-regulation of E9 protein (CD105) in human vascular endothelial cells. Int J Cancer 1995;62:791-6.
168. 168 Wang JM, Kumar S, Pye D, et al. A monoclonal antibody detects heterogeneity in vascular endothelium of tumours and normal tissues. Int J Cancer 1993;54:363-70.
169. 169 Gougos A , Letarte M. Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J Biol Chem 1990;265:8361-4.
170. 170 St-Jacques S, Cymerman U, Pece N, et al. Molecular characterization and in situ localization of murine endoglin reveal that it is a transforming growth factor-β binding protein of endothelial and stromal cells. Endocrinology 1994;134:2645-57.
171. 171 Cheifetz S, Bellón T, Calés C, et al. Endoglin is a component of the transforming growth factor-β receptor system in human endothelial cells. J Biol Chem 1992;267:19027-30.
172. 172 Bellón T, Corbi A, Lastres P, et al. Identification and expression of two forms of the human transforming growth factor-β-binding protein endoglin with distinct cytoplasmic regions. Eur J Immunol 1993;23:2340-5.
173. 173 Yamashita H, Ichijoro H, Grimsby S, et al. Endoglin forms a heteromeric complex with the signaling receptors for transforming growth factor-β. J Biol Chem 1994;269:1995-2001.
174. 174 Zhang H, Shaw ARE, Mak A, et al. Endoglin is a component of the transforming growth factor (TGF)-β receptor complex of human pre-B leukemic cells. J Immunol 1996;156:565-73.
175. 175 Pece Barbara N, Wrana JL, Letarte M. Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the TGF-β superfamily. J Biol Chem 1999;274:584-94.
176. 176 Lastres P, Letamendia A, Zhang H, et al. Endoglin modulates cellular responses to TGF-β1. J Cell Biol 1996;133: 1109-21.
177. 177 Letamandia A, Lastres P, Botella LM, et al. Role of endoglin in cellular responses to transforming growth factor-β. J Biol Chem 1998;273:33011-9.
178. 178 Caniggia I, Taylor CV, Ritchie JWK, et al. Endoglin regulates trophoblast differentiation along the invasive pathway in human placental villous explants. Endocrinology 1997; 138:4977-88.
179. 179 Dickson MC, Martin JS, Cousins FM, et al. Defective haematopoeisis and vasculogenesis in transforming growth factor-β1 knock out mice. Development 1995;121:1845-54.
180. 180 Proetzel G, Pawlowski S, Wiles M, et al. Transforming growth factor-β3 is required for secondary palate fusion. Nature Genet 1995;11:409-14.
181. 181 Kaartinen V, Voncken JW, Schuler C, et al. Abnormal lung development and cleft palate in mice lacking TGF-β3 indicates defects of epithelial-mesenchymal interaction. Nature Genet 1995;11:415-21.
182. 182 Koh GY, Kim S-J, Klug MG, et al. Targeted expression of transforming growth factor-β1 in intracardiac grafts promotes vascular endothelial cell DNA synthesis. J Clin Invest 1995;95:114-21.
183. 183 Folkman J, D'Amore PA. Blood vessel formation: what is its molecular basis? Cell 1996;87:1153-5.
184. 184 Clark ER, Clark EL. Microscopic observations on the extra-endothelial cells of living mammalian blood vessels. Am J Anat 1940;66:2-49.
185. 185 Langille BL, Bendeck MP, Keeley FW. Adaptations of carotid arteries of young and mature rabbits to reduced carotid blood flow. Am J Physiol 1989;256:H931-99.
186. 186 Cho A, Courtman DW, Langille BL. Apoptosis (programmed cell death) in arteries of the neonatal lamb. Circ Res 1995;76:168-75.
187. 187 Derynk R, Jarrett JA, Chen EY, et al. Human transforming growth factor-β complementary DNA sequence and expression in normal and transformed cells. Nature 1985;316:701-5.
188. 188 Assoian RK, Fleurdelys BE, Stevenson HC, et al. Expression and secretion of type beta transfoming growth factor by activated human macrophages. Proc Natl Acad Sci USA 1987;84:6020-4.
189. 189 Sporn MB, Roberts AB, Wakefield LM, et al. Some recent advances in the chemistry and biology of transforming growth factor-beta. J Cell Biol 1987;105:1039-45.
190. 190 Ohno M, Cooke JP, Dzau VJ, et al. Fluid shear stress induces endothelial transforming growth factor beta-1 transcription and production. J Clin Invest 1995;95:1363-9.
191. 191 Madri JA, Bell L, Merwin JR. Modulation of vascular cell behaviour by transforming growth factors β. Mol Reprod Devel 1992;32:121-6.
192. 192 Ignotz R, Endo T, Massague J. Regulation of fibronectin and type I collagen mRNA levels by transforming growth factor beta. J Biol Chem 1987;262:6443-6.
193. 193 Edwards D, Murphy G, Reynolds J, et al. Transforming growth factor beta modulates the expression of collagenase and metalloproteinase inhibitor. EMBO J 1987;6:1899-904.