PMC Links for OMIM (Select 102620) - PMC

Select item 60349991.

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer, Alan C. Braverman, Lesley Ades, Susan Benedict, Timothy J. Bradley, M. Elizabeth Brickner, Kathryn C. Chatfield, Anne Child, Cori Feist, Kathryn W. Holmes, Glen Iannucci, Birgit Lorenz, Paul Mark, Takayuki Morisaki, Hiroko Morisaki, Shaine A. Morris, Anna L. Mitchell, John R. Ostergaard, Julie Richer, Denver Sallee, Sherene Shalhub, Mustafa Tekin, Montalcino Aortic Consortium, Anthony Estrera, Patricia Musolino, Anji Yetman, Reed Pyeritz, Dianna M. Milewicz

Genet Med. Author manuscript; available in PMC 2018 Nov 22.

Published in final edited form as: Genet Med. 2018 Oct; 20(10): 1206–1215. Published online 2018 Jan 4. doi: 10.1038/gim.2017.245

PMCID:: PMC6034999

Article PDF–550K

Select item 55908212.

Visceral Myopathy: Clinical and Molecular Survey of a Cohort of Seven New Patients and State of the Art of Overlapping Phenotypes

Carolina Araujo Moreno, Konradin Metze, Elizete Aparecida Lomazi, Débora Romeo Bertola, Ricardo Henrique Almeida Barbosa, Viviana Cosentino, Nara Sobreira, Denise Pontes Cavalcanti

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 8.

Published in final edited form as: Am J Med Genet A. 2016 Nov; 170(11): 2965–2974. Published online 2016 Aug 2. doi: 10.1002/ajmg.a.37857

PMCID:: PMC5590821

Article PDF–353K

Select item 35737573.

De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena M. Ala-Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza-Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley Adès, Joseph F. Maher, Dongchuan Guo, L. Maximilian Buja, Dong Kim, James C. Hyland, Ellen S. Regalado

Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 15.

Published in final edited form as: Am J Med Genet A. 2010 Oct; 152A(10): 2437–2443. doi: 10.1002/ajmg.a.33657

PMCID:: PMC3573757

Article PDF–883K

Select item 30836204.

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

Sabine Hoffjan, Stephan Waldmüller, Wulf Blankenfeldt, Judith Kötting, Petra Gehle, Priska Binner, Joerg T Epplen, Thomas Scheffold

Eur J Hum Genet. 2011 May; 19(5): 520–524. Published online 2011 Jan 19. doi: 10.1038/ejhg.2010.239

PMCID:: PMC3083620

Article PDF–426K

Select item 26809955.

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N. Singh, Ronald L. Dalman, James C. Grotta, Ali J. Marian, Eric A. Boerwinkle, Lorraine Q. Frazier, Scott A. LeMaire, Joseph S. Coselli, Anthony L. Estrera, Hazim J. Safi, Sudha Veeraraghavan, Donna M. Muzny, David A. Wheeler, James T. Willerson, Robert K. Yu, Sanjay S. Shete, Steven E. Scherer, C.S. Raman, L. Maximilian Buja, Dianna M. Milewicz

Am J Hum Genet. 2009 May 15; 84(5): 617–627. doi: 10.1016/j.ajhg.2009.04.007

PMCID:: PMC2680995

Article PDF–1.4M

Select item 3688756.

Structure of a human smooth muscle actin gene (aortic type) with a unique intron site.

H Ueyama, H Hamada, N Battula, T Kakunaga

Mol Cell Biol. 1984 Jun; 4(6): 1073–1078. doi: 10.1128/mcb.4.6.1073

PMCID:: PMC368875

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