Loeys-Dietz Syndrome
作者： Lut Van Laer , Harry Dietz , Bart Loeys
DOI: 10.1007/978-94-007-7893-1_7
关键词: Pathology 、 Ehlers–Danlos syndrome 、 Loss function 、 Transforming growth factor beta 、 Hypertelorism 、 Aortic dissection 、 Arterial tree 、 Loeys–Dietz syndrome 、 Endocrinology 、 Aortic aneurysm 、 Medicine 、 Internal medicine
摘要: Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and with tortuosity. Natural history significant for dissection at smaller diameter arterial aneurysms throughout the tree. genetic cause heterogeneous mutations in genes encoding components of transforming growth factor beta (TGFβ) signalling pathway: TGFBR1, TGFBR2, SMAD3 TGFB2. Despite loss function nature these mutations, patient-derived tissues show evidence increased (rather than decreased) TGFβ signalling. These insights offer new options therapeutic interventions.
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sci-hub.se 参考文章(51)
Wei-Qi He, Min-Sheng Zhu, Stephan Offermanns, Dawna Gilchrist, John Elefteriades, James T. Stull, Dianna M. Milewicz, Li Wang, Dong-chuan Guo, Jiumei Cao, Limin Gong, Kristine E. Kamm, Ellen Regalado, Li Li, Sanjay Shete, Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections American Journal of Human Genetics. ,vol. 87, pp. 701- 707 ,(2010) , 10.1016/J.AJHG.2010.10.006
Jason A. Williams, Bart L. Loeys, Lois U. Nwakanma, Harry C. Dietz, Philip J. Spevak, Nishant D. Patel, Katrien François, Julie DeBacker, Vincent L. Gott, Luca A. Vricella, Duke E. Cameron, Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease The Annals of Thoracic Surgery. ,vol. 83, pp. 757- ,(2007) , 10.1016/J.ATHORACSUR.2006.10.091
Katarina Möberg, Sylvia De Nobele, Dan Devos, Els Goetghebeur, Patrick Segers, Bram Trachet, Chris Vervaet, Marjolijn Renard, Paul Coucke, Bart Loeys, Anne De Paepe, Julie De Backer, The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers. International Journal of Cardiology. ,vol. 157, pp. 354- 358 ,(2012) , 10.1016/J.IJCARD.2010.12.070
V Tran-Fadulu, H Pannu, D H Kim, G W Vick, C M Lonsford, A L Lafont, C Boccalandro, S Smart, K L Peterson, J Z. Hain, M C Willing, J S Coselli, S A LeMaire, C Ahn, P H Byers, D M Milewicz, Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations Journal of Medical Genetics. ,vol. 46, pp. 607- 613 ,(2009) , 10.1136/JMG.2008.062844
Fransiska Malfait, Sofie Symoens, Julie De Backer, Trinh Hermanns-Lê, Natzi Sakalihasan, Charles M. Lapière, Paul Coucke, Anne De Paepe, Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood† Human Mutation. ,vol. 28, pp. 387- 395 ,(2007) , 10.1002/HUMU.20455
B. L. Loeys, H. C. Dietz, A. C. Braverman, B. L. Callewaert, J. De Backer, R. B. Devereux, Y. Hilhorst-Hofstee, G. Jondeau, L. Faivre, D. M. Milewicz, R. E. Pyeritz, P. D. Sponseller, P. Wordsworth, A. M. De Paepe, The revised Ghent nosology for the Marfan syndrome Journal of Medical Genetics. ,vol. 47, pp. 476- 485 ,(2010) , 10.1136/JMG.2009.072785
Sarah Cardoso, Stephen P. Robertson, Philip B. Daniel, TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. Journal of Receptors and Signal Transduction. ,vol. 32, pp. 150- 155 ,(2012) , 10.3109/10799893.2012.664553
Reed E. Pyeritz, Bart Loeys, The 8th international research symposium on the Marfan syndrome and related conditions. American Journal of Medical Genetics Part A. ,vol. 158, pp. 42- 49 ,(2012) , 10.1002/AJMG.A.34386
Gretchen MacCarrick, James H. Black, Sarah Bowdin, Ismail El-Hamamsy, Pamela A. Frischmeyer-Guerrerio, Anthony L. Guerrerio, Paul D. Sponseller, Bart Loeys, Harry C. Dietz, Loeys-Dietz syndrome: a primer for diagnosis and management Genetics in Medicine. ,vol. 16, pp. 576- 587 ,(2014) , 10.1038/GIM.2014.11
Guy Gutman, Hagit N. Baris, Raphael Hirsch, Dror Mandel, Yuval Yaron, Joseph B. Lessing, Michael J. Kuperminc, Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. Fetal Diagnosis and Therapy. ,vol. 26, pp. 35- 37 ,(2009) , 10.1159/000236357