A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees

被引:7
作者
Imai, Yasushi [1 ,5 ]
Morita, Hiroyuki [1 ]
Takeda, Norifumi [1 ]
Miya, Fuyuki [2 ]
Hyodo, Hironobu [3 ]
Fujita, Daishi [1 ]
Tajima, Tomoyuki [1 ]
Tsunoda, Tatsuhiko [2 ]
Nagai, Ryozo [1 ,5 ]
Kubo, Michiaki [4 ]
Komuro, Issei [1 ]
机构
[1] Univ Tokyo, Grad Sch Med, Dept Cardiovasc Med, Tokyo 1138655, Japan
[2] RIKEN, Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan
[3] Tokyo Metropolitan Bokutoh Hosp, Dept Obstet & Gynecol, Tokyo, Japan
[4] RIKEN, Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa, Japan
[5] Jichi Med Univ, Shimotsuke, Tochigi, Japan
关键词
Aortic dissection; Mutation; Genetics; Myosin; PATENT DUCTUS-ARTERIOSUS; SMOOTH-MUSCLE; ANEURYSMS;
D O I
10.1016/j.ijcard.2015.05.178
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:290 / 292
页数:3
相关论文
共 7 条
[1]   Genetics of Thoracic Aortic Aneurysm: At the Crossroad of Transforming Growth Factor- Signaling and Vascular Smooth Muscle Cell Contractility [J].
Gillis, Elisabeth ;
Van Laer, Lut ;
Loeys, Bart L. .
CIRCULATION RESEARCH, 2013, 113 (03) :327-340
[2]   Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections [J].
Guo, Dong-Chuan ;
Pannu, Hariyadarshi ;
Tran-Fadulu, Van ;
Papke, Christina L. ;
Yu, Robert K. ;
Avidan, Nili ;
Bourgeois, Scott ;
Estrera, Anthony L. ;
Safi, Hazim J. ;
Sparks, Elizabeth ;
Amor, David ;
Ades, Lesley ;
McConnell, Vivienne ;
Willoughby, Colin E. ;
Abuelo, Dianne ;
Willing, Marcia ;
Lewis, Richard A. ;
Kim, Dong H. ;
Scherer, Steve ;
Tung, Poyee P. ;
Ahn, Chul ;
Buja, L. Maximilian ;
Raman, C. S. ;
Shete, Sanjay S. ;
Milewicz, Dianna M. .
NATURE GENETICS, 2007, 39 (12) :1488-1493
[3]   Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus [J].
Harakalova, Magdalena ;
van der Smagt, Jasper ;
de Kovel, Carolien G. F. ;
van't Slot, Ruben ;
Poot, Martin ;
Nijman, Isaac J. ;
Medic, Jelena ;
Joziasse, Irene ;
Deckers, Jaap ;
Roos-Hesselink, Jolien W. ;
Wessels, Marja W. ;
Baars, Hubert F. ;
Weiss, Marjan M. ;
Pals, Gerard ;
Golmard, Lisa ;
Jeunemaitre, Xavier ;
Lindhout, Dick ;
Cuppen, Edwin ;
Baas, Annette F. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2013, 21 (05) :487-493
[4]   The tip of the coiled-coil rod determines the filament formation of smooth muscle and nonmuscle myosin [J].
Ikebe, M ;
Komatsu, S ;
Woodhead, JL ;
Mabuchi, K ;
Ikebe, R ;
Saito, J ;
Craig, R ;
Higashihara, M .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (32) :30293-30300
[5]   MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II [J].
Pannu, Hariyadarshi ;
Tran-Fadulu, Van ;
Papke, Christina L. ;
Scherer, Steve ;
Liu, Yaozhong ;
Presley, Caroline ;
Guo, Dongchuan ;
Estrera, Anthony L. ;
Safi, Hazim J. ;
Brasier, Allan R. ;
Vick, G. Wesley ;
Marian, A. J. ;
Raman, C. S. ;
Buja, L. Maximilian ;
Milewicz, Dianna M. .
HUMAN MOLECULAR GENETICS, 2007, 16 (20) :2453-2462
[6]   Skip residues and charge interactions in myosin II coiled-coils: Implications for molecular packing [J].
Straussman, R ;
Squire, JM ;
Ben-Ya'acov, A ;
Ravid, S .
JOURNAL OF MOLECULAR BIOLOGY, 2005, 353 (03) :613-628
[7]   Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus [J].
Zhu, LM ;
Vranckx, R ;
Van Kien, PK ;
Lalande, A ;
Boisset, N ;
Mathieu, F ;
Wegman, M ;
Glancy, L ;
Gasc, JM ;
Brunotte, FO ;
Bruneval, P ;
Wolf, JE ;
Michel, JB ;
Jeunemaitre, X .
NATURE GENETICS, 2006, 38 (03) :343-349