Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
- Author
- GUO, Dong-Chuan1 ; PAPKE, Christina L1 ; PYERITZ, Reed E4 ; SINGH, Michael N5 ; DALMAN, Ronald L6 ; GROTTA, James C1 ; MARIAN, Ali J1 7 ; BOERWINKLE, Eric A1 7 ; FRAZIER, Lorraine Q1 ; LCMAIRE, Scott A7 8 ; COSELLI, Joseph S7 8 ; ESTRERA, Anthony L1 ; TRAN-FADULU, Van1 ; SAFI, Hazim J1 ; VEERARAGHAVAN, Sudha1 ; MUZNY, Donna M8 ; WHEELER, David A8 ; WILLERSON, James T7 ; YU, Robert K9 ; SHETE, Sanjay S9 ; SCHERER, Steven E8 ; RAMAN, C. S1 ; BUJA, L. Maximilian1 ; REGALADO, Ellen S1 ; MILEWICZ, Dianna M1 7 ; AVIDAN, Nili1 ; JOHNSON, Ralph Jay1 ; KIM, Dong H1 ; PANNU, Hariyadarshi1 ; WILLING, Marcia C2 ; SPARKS, Elizabeth3
[1] The University of Texas Health Science Center at Houston, Houston, TX 77030, United States
[2] The University of Iowa Hospitals and Clinics, Iowa City, IA 52242, United States
[3] Harvard Medical School, Boston, MA 02446, United States
[4] University of Pennsylvania School of Medicine, Philadelphia, PA 19104, United States
[5] Children's Hospital Boston/Brigham and Women's Hospital, Boston 02115, MA, United States
[6] Stanford University Medical School, Palo Alto, CA 94305, United States
[7] Texas Heart Institute, TX 77030, United States
[8] Baylor College of Medicine, Houston, TX 77030, United States
[9] University of Texas M.D. Anderson Cancer Center, Houston, TX 77030, United States - Source
American journal of human genetics. 2009, Vol 84, Num 5, pp 617-627, 11 p ; ref : 33 ref
- Publisher
- Cell Press, Cambridge, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Accident cérébrovasculaire Actine Athérosclérose Cardiopathie coronaire Cause Génétique Homme Maladie de Nishimoto Kudo Muscle lisse Mutation Pathologie cérébrovasculaire Pathologie de l'aorte Pathologie de l'appareil circulatoire Pathologie des artères Pathologie des vaisseaux sanguins Pathologie du système nerveux central Thorax Moya Moya maladie Pathologie de l'encéphale Pathologie du système nerveux
- Keyword (en)
- Stroke Actin Atherosclerosis Coronary heart disease Cause Genetics Human Nishimoto Kudo disease Smooth muscle Mutation Cerebrovascular disease Aortic disease Cardiovascular disease Arterial disease Vascular disease Central nervous system disease Thorax Moya Moya disease Cerebral disorder Nervous system diseases
- Keyword (es)
- Accidente cerebrovascular Actina Ateroesclerosis Cardiopatía coronaria Causa Genética Hombre Nishimoto Kudo enfermedad Músculo liso Mutación Vaso sanguíneo encéfalo patología Aorta patología Aparato circulatorio patología Arteria patología Vaso sanguíneo patología Sistema nervosio central patología Tórax Enfermedad de Moyamoya Encéfalo patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12A Heart / 002B12A03 Coronary heart disease
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Cardiology. Circulatory system Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21491224
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1016/j.ajhg.2009.04.007 
https://dx.doi.org/10.1016/j.ajhg.2009.04.007
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