GRMAB HHT Publications (Updated June 2013) 1. Abdalla S, Cymerman U, Rushlow D, Chen N, Stoeber G, Lemire E, Letarte M. (2005). Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum. Mutat. 25: 320-321. doi: 10.1002/humu.9312. 2. Abdalla SA, Cymerman U, Johnson R, Deber C, Letarte M. (2003). Disease- associated mutations in conserved residues of the ALK-1 kinase domain. Eur. J. Hum. Genet. 11: 279-287. doi:10.1038/sj.ejhg.5200919. 3. Abdalla SA, Gallione CJ, Barst RJ, Horn EM, Knowles JA, Marchuk DA, Letarte M, Morse JH. (2004). Primary pulmonary hypertension in families with Hereditary Hemorrhagic Telangiectasia. Eur. Respir. J. 23: 373-377. doi: 10.1183/09031936.04.00085504. 4. Abdalla SA, Geisthoff UW, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan ME, Letarte M. (2003). Visceral manifestations in Hereditary Hemorrhagic Telangiectasia type 2. J. Med. Gen. 40: 494-502. doi: 10.1136/jmg.40.7.494. 5. Abdalla SA, Letarte M. (2006). Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J. Med. Genet. 43: 97-110. doi: 10.1136/jmg.2005.030833. 6. Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M (2000). Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum. Mol. Genet. 9: 1227-1237. doi: 10.1093/hmg/9.8.1227. 7. Albiñana V, Bernabeu-Herrero ME, Zarrabeitia R, Bernabeu C, Botella LM. (2010). Estrogen therapy for Hereditary Haemorrhagic Telangiectasia (HHT): Effects of Raloxifene, on Endoglin and ALK1 expression in endothelial cells. Thromb. Haemost. 103: 525-534. 8. Albiñana V, Recio-Poveda L, Zarrabeitia R, Bernabéu C, Botella LM. (2012). Propranolol as antiangiogenic candidate for the therapy of hereditary haemorrhagic telangiectasia. Thromb. Haemost. 108: 41-53. doi: 10.1160/TH11-11-0809. 9. Albiñana V, Sanz-Rodriguez F, Recio-Poveda L, Bernabeu C, Botella LM. (2011). Immunosuppressor FK506 increases endoglin and ALK1 expression and modulates TGF-beta signaling in endothelial cells. Mol. Pharmacol. 79: 833-843. 10. Allen P, Melero-Martin J, Bischoff J. (2011). Type I collagen, fibrin and PuraMatrix matrices provide permissive environments for human endothelial and mesenchymal progenitor cells to form neovascular networks. J. Tissue Eng. Regen. Med. 5(4):e74-86. doi: 10.1002/term.389. 11. Allinson KR, Carvalho RL, van den Brink S, Mummery CL, Arthur HM. (2007). Generation of a floxed allele of the mouse Endoglin gene. Genesis 45: 391-395. 12. Allinson KR, Lee HS, Fruttiger M, McCarty JH, Arthur HM. (2012). Endothelial expression of TGFβ type II receptor is required to maintain vascular integrity during postnatal development of the central nervous system. PLoS One. 2012; 1 GRMAB HHT Publications (Updated June 2013) 7(6):e39336. doi: 10.1371/journal.pone.0039336. Erratum in: PLoS One. 2012 Sep;7(9). doi: 10.1371/annotation/8d859757-284b-406d-9cb9-a8776ad32fb1. 13. Al-Saleh S, Dragulescu A, Manson D, Golding F, Traubici J, Mei-Zahav M, Maclusky IB, Faughnan ME, Carpenter S, Ratjen F. (2012). Utility of contrast echocardiography for pulmonary arteriovenous malformation screening in pediatric hereditary hemorrhagic telangiectasia. J. Pediatr. 160: 1039-1043.e1. doi: 10.1016/j.jpeds.2011.11.038. 14. Al-Saleh S, John PR, Letarte M, Faughnan ME, Belik J, Ratjen F. (2011). Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia. Pediatrics. 127(6):e1615-1620. doi: 10.1542/peds.2010-2366. 15. Al-Saleh S, Mei-Zahav M, Faughnan ME, MacLusky IB, Carpenter S, Letarte M, Ratjen F. (2009). Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Eur. Respir. J. 34: 875-881. doi: 10.1183/09031936.00030009. 16. Alt A, Miguel-Romero L, Donderis J, Aristorena M, Blanco FJ, Round A, Rubio V, Bernabeu C, Marina A. (2012). Structural and functional insights into endoglin ligand recognition and binding. PLoS ONE 7(2): e29948. 12 pages. doi:10.1371/journal.pone.0029948. 17. Alvarez-Muñoz P, Mauer M, Kim Y, Rich SS, Miller ME, Russell GB, Lopez-Novoa JM, Caramori ML. (2010). Cellular basis of diabetic nephropathy: V. Endoglin expression levels and diabetic nephropathy risk in patients with Type 1 diabetes. J. Diabetes Complications 24: 242-249. 18. Anderberg C, Cunha S , Zhai Z , Pardali E, Cortez E, Johnson J, Franco M, Paez- Ribes M, Cordiner R, Fuxe J, Goumans MJ, Casanovas O, ten Dijke P, Arthur HM, Pietras K. (2013). Adaptation to impaired tumor angiogenesis in endoglin-deficient mice is paralleled by increased metastatic dissemination caused by a weakened endothelial cell barrier. J. Exp. Med. 210: 563-579. doi: 10.1084/jem.20120662. 19. Andersen PE, Kjeldsen AD, Oxhøj H, Vase P, White RI Jr. (1998). Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Acta Radiol. 39: 723-726. PMID: 9817050. 20. Andersen PE, Kjeldsen AD, Oxhøj H, Vase P. (2001). Percutaneous transluminal embolization of pulmonary arteriovenous malformations]. Ugeskr. Laeger. 163: 925-928. Danish. PMID: 11228789. 21. Andersen PE, Kjeldsen AD. (2001). Pulmonary arteriovenous malformations. Current therapeutic principles. Ugeskr. Laeger. 163: 4398-43401. Review. Danish. PMID: 11521579. 22. Andersen PE, Kjeldsen AD. (2006). Clinical and radiological long-term follow-up after embolization of pulmonary arteriovenous malformations. Cardiovasc. Intervent. Radiol. 29: 70-74. PMID: 16195839. 2 GRMAB HHT Publications (Updated June 2013) 23. Andersen PE, Kjeldsen AD. (2007). Occlusion of pulmonary arteriovenous malformations by use of vascular plug. Acta Radiol. 48: 496-499. PMID: 17520424. 24. Andersen PE, Kjeldsen AD. (2008). Long-term follow-up after embolization of pulmonary arteriovenous malformations with detachable silicone balloons. Cardiovasc. Intervent. Radiol. 31: 569-574. PMID: 18157681. 25. Andersen PE, Kjeldsen AD. (2010). Interventional treatment of pulmonary arteriovenous malformations. World J. Radiol. 2: 339-344. doi: 10.4329/wjr.v2.i9.339. 26. Andersen PJ, Kjeldsen AD, Nepper-Rasmussen J. (2005). Selective embolization in the treatment of intractable epistaxis. Acta Otolaryngol. 125: 293-297. PMID: 15966700. 27. Arthur HM, Bamforth SD. (2011). TGFβ signaling and congenital heart disease: Insights from mouse studies. Birth Defects Res. A Clin. Mol. Teratol. 91: 423-434. doi: 10.1002/bdra.20794. 28. Babin E, Borsik M, Braccard S, Crampette L, Darrouzet V, Faure F, Fontanel JP, Houdart E, Jankowki R, Le Clech G, Malvezzi L, Moriniere S, Perie S, Perret J, Pignat JC, Portier F, Serrano E, Plauchu H. (2005). Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa. Rev. Laryngol. Otol. Rhinol. (Bord) 126: 43-48. 29. Bailly S, Dupuis-Girod S, Plauchu H. (2010). Dysfonctionnement de la signalisation TGFβ dans les cellules endothéliales. Rendu-Osler disease: clinical and molecular update. Med. Sci. (Paris). 26: 855-860. doi: 10.1051/medsci/20102610855. 30. Bayrak-Toydemir P, Mao R, Lewin S, McDonald J. (2004). Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians. Genet. Med. 6: 175-191. 31. Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. (2006). A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am. J. Med. Genet. A. 140: 2155-2162. 32. Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E. (2008). Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model. Exp. Mol. Pathol. 85: 45-49. 33. Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. (2006). Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am. J. Med. Gen. A. 140: 463-470. 34. Begbie ME, Shovlin CL. (2003). Genetics of Vascular Malformations. In: Genetics of Angiogenesis. Eds. Hoying JB. BIOS, Oxford. 147-163. ISBN: 9781859960592. 35. Begbie ME, Wallace GMF, Shovlin CL. (2003). Hereditary Hemorrhagic Telangiectasia: A view from the 21st Century. Postgrad. Med. J. 79: 18-24. 3 GRMAB HHT Publications (Updated June 2013) 36. Beiroa D, Romero-Picó A, Langa C, Bernabeu C, López M, López-Novoa JM, Nogueiras R, Diéguez C. (2013). Heterozygous Deficiency of Endoglin Decreases Insulin and Hepatic Triglyceride Levels during High Fat Diet. PLoS One. 8(1):e54591. doi:10.1371/journal.pone.0054591. 37. Belik J, Jerkic M, McIntyre BAS, Pan J, Leen J, Yu LX, Henkelman RM, Toporsian M, Letarte M. (2009). Age-dependent endothelial nitric oxide synthase uncoupling in pulmonary arteries of endoglin heterozygous mice. Am. J. Pathol. Lung Cell Mol. Physiol. 297: L1170-L1178. 38. Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ. (2012). Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. Nat. Commun. 3: 616. doi: 10.1038/ncomms1633. 39. Berg AM, Amirbekian S, Mojibian H, Trow TK, Smith SJ, White RI Jr. (2010). Hemothorax due to rupture of pulmonary arteriovenous malformation: an interventional emergency. Chest 137: 705-707. 40. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D and Guttmacher A. (2003). Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. J. Med. Genet. 40: 585-590. 41. Bernabeu C, Blanco FJ, Langa C, Garrido-Martin EM, Botella LM. (2010). Involvement of the TGF-beta superfamily signalling pathway in hereditary haemorrhagic telangiectasia. J. Applied Biomed. 8: 169-177. doi: 10.2478/v10136- 009-0020-x. 42. Bernabeu C, Conley BA, Vary CP. (2007). Novel biochemical pathways of endoglin in vascular cell physiology. J. Cell Biochem.
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