Heritable Thoracic Aortic Aneurysm Disease Recognizing Phenotypes, Exploring Genotypes

被引:10
作者
Braverman, Alan C. [1 ]
机构
[1] Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USA
关键词
cytoskeleton; extracellular matrix proteins; Loeys-Dietz syndrome; Marfan syndrome; receptors; transforming growth factor beta; LOEYS-DIETZ SYNDROME; DISORDERS; MUTATION; FEATURES; TGFB3;
D O I
10.1016/j.jacc.2014.12.056
中图分类号
R5 [内科学];
学科分类号
100201 [内科学];
摘要
引用
收藏
页码:1337 / 1339
页数:3
相关论文
共 9 条
[1]
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections [J].
Bertoli-Avella, Aida M. ;
Gillis, Elisabeth ;
Morisaki, Hiroko ;
Verhagen, Judith M. A. ;
de Graaf, Bianca M. ;
van de Beek, Gerarda ;
Gallo, Elena ;
Kruithof, Boudewijn P. T. ;
Venselaar, Hanka ;
Myers, Loretha A. ;
Laga, Steven ;
Doyle, Alexander J. ;
Oswald, Gretchen ;
van Cappellen, Gert W. A. ;
Yamanaka, Itaru ;
van der Helm, Robert M. ;
Beverloo, Berna ;
de Klein, Annelies ;
Pardo, Luba ;
Lammens, Martin ;
Evers, Christina ;
Devriendt, Koenraad ;
Dumoulein, Michiel ;
Timmermans, Janneke ;
Bruggenwirth, Hennie T. ;
Verheijen, Frans ;
Rodrigus, Inez ;
Baynam, Gareth ;
Kempers, Marlies ;
Saenen, Johan ;
Van Craenenbroeck, Emeline M. ;
Minatoya, Kenji ;
Matsukawa, Ritsu ;
Tsukube, Takuro ;
Kubo, Noriaki ;
Hofstra, Robert ;
Goumans, Marie Jose ;
Bekkers, Jos A. ;
Roos-Hesselink, Jolien W. ;
van de laar, Ingrid M. B. H. ;
Dietz, Harry C. ;
Van Laer, Lut ;
Morisaki, Takayuki ;
Wessels, Marja W. ;
Loeys, Bart L. .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2015, 65 (13) :1324-1336
[2]
Matrix-dependent perturbation of TGFβ signaling and disease [J].
Doyle, Jefferson J. ;
Gerber, Elizabeth E. ;
Dietz, Harry C. .
FEBS LETTERS, 2012, 586 (14) :2003-2015
[3]
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease [J].
Guo, Dong-Chuan ;
Papke, Christina L. ;
Tran-Fadulu, Van ;
Regalado, Ellen S. ;
Avidan, Nili ;
Johnson, Ralph Jay ;
Kim, Dong H. ;
Pannu, Hariyadarshi ;
Willing, Marcia C. ;
Sparks, Elizabeth ;
Pyeritz, Reed E. ;
Singh, Michael N. ;
Dalman, Ronald L. ;
Grotta, James C. ;
Marian, Ali J. ;
Boerwinkle, Eric A. ;
Frazier, Lorraine Q. ;
LeMaire, Scott A. ;
Coselli, Joseph S. ;
Estrera, Anthony L. ;
Safi, Hazim J. ;
Veeraraghavan, Sudha ;
Muzny, Donna M. ;
Wheeler, David A. ;
Willerson, James T. ;
Yu, Robert K. ;
Shete, Sanjay S. ;
Scherer, Steven E. ;
Raman, C. S. ;
Buja, L. Maximilian ;
Milewicz, Dianna M. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) :617-627
[4]
Aneurysm syndromes caused by mutations in the TGF-β receptor [J].
Loeys, Bart L. ;
Schwarze, Ulrike ;
Holm, Tammy ;
Callewaert, Bert L. ;
Thomas, George H. ;
Pannu, Hariyadarshi ;
De Backer, Julie F. ;
Oswald, Gretchen L. ;
Symoens, Sofie ;
Manouvrier, Sylvie ;
Roberts, Amy E. ;
Faravelli, Francesca ;
Greco, M. Alba ;
Pyeritz, Reed E. ;
Milewicz, Dianna M. ;
Coucke, Paul J. ;
Cameron, Duke E. ;
Braverman, Alan C. ;
Byers, Peter H. ;
De Paepe, Anne M. ;
Dietz, Harry C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (08) :788-798
[5]
De Novo Mutation of the Latency-Associated Peptide Domain of TGFB3 in a Patient With Overgrowth and Loeys-Dietz Syndrome Features [J].
Matyas, Gabor ;
Naef, Paulina ;
Tollens, Martin ;
Oexle, Konrad .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (08) :2141-2143
[6]
Increased Vertebral Artery Tortuosity Index Is Associated With Adverse Outcomes in Children and Young Adults With Connective Tissue Disorders [J].
Morris, Shaine A. ;
Orbach, Darren B. ;
Geva, Tal ;
Singh, Michael N. ;
Gauvreau, Kimberlee ;
Lacro, Ronald V. .
CIRCULATION, 2011, 124 (04) :388-396
[7]
Heritable thoracic aortic disorders [J].
Pyeritz, Reed E. .
CURRENT OPINION IN CARDIOLOGY, 2014, 29 (01) :97-102
[8]
A Mutation in TGFB3 Associated With a Syndrome of Low Muscle Mass, Growth Retardation, Distal Arthrogryposis and Clinical Features Overlapping With Marfan and Loeys-Dietz Syndrome [J].
Rienhoff, Hugh Young, Jr. ;
Yeo, Chang-Yeol ;
Morissette, Rachel ;
Khrebtukova, Irina ;
Melnick, Jonathan ;
Luo, Shujun ;
Leng, Nan ;
Kim, Yeon-Jin ;
Schroth, Gary ;
Westwick, John ;
Vogel, Hannes ;
McDonnell, Nazli ;
Hall, Judith G. ;
Whitman, Malcolm .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (08) :2040-2046
[9]
TAD Coalition, THOR AORT DIS