Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).
作者： Hiroko Morisaki , Koichi Akutsu , Hitoshi Ogino , Norihiro Kondo , Itaru Yamanaka
DOI: 10.1002/HUMU.21081
关键词:
摘要: … ACTA2 gene were recently shown to cause familial AAD. In the present study, we conducted sequence analyses of the ACTA2 … Our results identified three mutations of ACTA2, two novel …
sci-hub.se 参考文章(21)
A Superti-Furga, E Gugler, R Gitzelmann, B Steinmann, Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. Journal of Biological Chemistry. ,vol. 263, pp. 6226- 6232 ,(1988) , 10.1016/S0021-9258(18)68776-9
Catherine Boileau, Jeanne-Armelle Alexandre, Olivier Dubourg, Marie-Claude Babron, Judith Melki, Catherine Bonaïti-Pellié, Claudine Junien, Gabriel Delorme, Monique Coulon, Jean-Pierre Bourdarias, Guillaume Jondeau, Lynn Sakai, Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes American Journal of Human Genetics. ,vol. 53, pp. 46- 54 ,(1993)
L. Faivre, G. Collod-Beroud, B.L. Loeys, A. Child, C. Binquet, E. Gautier, B. Callewaert, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, H.C. Dietz, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Muti, H. Plauchu, P.N. Robinson, L.C. Adès, A. Biggin, B. Benetts, M. Brett, K.J. Holman, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, C. Boileau, Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study American Journal of Human Genetics. ,vol. 81, pp. 454- 466 ,(2007) , 10.1086/520125
Michael A Coady, Ryan R Davies, Michele Roberts, Lee J Goldstein, Matthew J Rogalski, John A Rizzo, Graeme L Hammond, Gary S Kopf, John A Elefteriades, Familial Patterns of Thoracic Aortic Aneurysms Archives of Surgery. ,vol. 134, pp. 361- 367 ,(1999) , 10.1001/ARCHSURG.134.4.361
Alan Biddinger, Marnie Rocklin, Joseph Coselli, Dianna M. Milewicz, Familial thoracic aortic dilatations and dissections: A case control study Journal of Vascular Surgery. ,vol. 25, pp. 506- 511 ,(1997) , 10.1016/S0741-5214(97)70261-1
Limin Zhu, Roger Vranckx, Philippe Khau Van Kien, Alain Lalande, Nicolas Boisset, Flavie Mathieu, Mark Wegman, Luke Glancy, Jean-Marie Gasc, François Brunotte, Patrick Bruneval, Jean-Eric Wolf, Jean-Baptiste Michel, Xavier Jeunemaitre, Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus Nature Genetics. ,vol. 38, pp. 343- 349 ,(2006) , 10.1038/NG1721
Nicolas Guex, Manuel C. Peitsch, SWISS-MODEL and the Swiss-Pdb Viewer: An environment for comparative protein modeling Electrophoresis. ,vol. 18, pp. 2714- 2723 ,(1997) , 10.1002/ELPS.1150181505
S. Vorobiev, B. Strokopytov, D. G. Drubin, C. Frieden, S. Ono, J. Condeelis, P. A. Rubenstein, S. C. Almo, The structure of nonvertebrate actin: Implications for the ATP hydrolytic mechanism Proceedings of the National Academy of Sciences of the United States of America. ,vol. 100, pp. 5760- 5765 ,(2003) , 10.1073/PNAS.0832273100
Sanjay S Shete, Dianna M Milewicz, Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran-Fadulu, Christina L Papke, Robert K Yu, Nili Avidan, Scott Bourgeois, Anthony L Estrera, Hazim J Safi, Elizabeth Sparks, David Amor, Lesley Ades, Vivienne McConnell, Colin E Willoughby, Dianne Abuelo, Marcia Willing, Richard A Lewis, Dong H Kim, Steve Scherer, Poyee P Tung, Chul Ahn, L Maximilian Buja, C S Raman, Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections Nature Genetics. ,vol. 39, pp. 1488- 1493 ,(2007) , 10.1038/NG.2007.6
Roberto Dominguez, Actin-binding proteins – a unifying hypothesis Trends in Biochemical Sciences. ,vol. 29, pp. 572- 578 ,(2004) , 10.1016/J.TIBS.2004.09.004