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Case Reports in Genetics
Volume 2014, Article ID 591516, 4 pages
Case Report

Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

1Nemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA
2Department of Pathology, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA
3Anatomy and Cell Biology, Thomas Jefferson University Hospital, Philadelphia, PA 19107, USA
4Connective Tissue Gene Tests, Allentown, PA 18106, USA

Received 14 November 2013; Accepted 6 January 2014; Published 3 March 2014

Academic Editors: C.-W. Cheng, M. Fenger, C.-S. Huang, P. Morrison, and G. Vogt

Copyright © 2014 Kristi K. Fitzgerald et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Citations to this Article [5 citations]

The following is the list of published articles that have cited the current article.

  • Aiko Shimokado, Yujing Sun, Masako Nakanishi, Fuyuki Sato, Kosuke Oikawa, Takashi Akasaka, and Yasuteru Muragaki, “Smad3 plays an inhibitory role in phosphate-induced vascular smooth muscle cell calcification,” Experimental And Molecular Pathology, vol. 97, no. 3, pp. 458–464, 2014. View at Publisher · View at Google Scholar
  • Guillaume Jondeau, and Catherine Boileau, “Familial thoracic aortic aneurysms,” Current Opinion in Cardiology, vol. 29, no. 6, pp. 492–498, 2014. View at Publisher · View at Google Scholar
  • Xingbo Xu, Ingeborg Friehs, Tachi Zhong Hu, Ivan Melnychenko, Bjoern Tampe, Fouzi Alnour, Maria Iascone, Raghu Kalluri, Michael Zeisberg, Pedro J. del Nido, and Elisabeth M. Zeisberg, “Endocardial Fibroelastosis Is Caused by Aberrant Endothelial to Mesenchymal Transition,” Circulation Research, vol. 116, no. 5, pp. 857–866, 2015. View at Publisher · View at Google Scholar
  • Wenwen Zhang, Min Zhou, Cheng Liu, Chen Liu, Tong Qiao, Dian Huang, Feng Ran, Wei Wang, Changjian Liu, and Zhao Liu, “ A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome ,” BioMed Research International, vol. 2015, pp. 1–6, 2015. View at Publisher · View at Google Scholar
  • I van der Pluijm, R M G B Buijs-Offerman, H J M Verhagen, R Kanaar, A M Bertoli-Avella, J Essers, N van Vliet, J H von der Thusen, J L Robertus, Y Ridwan, P M van Heijningen, B S van Thiel, M Vermeij, and S E Hoeks, “Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling.,” EBioMedicine, vol. 12, pp. 280–294, 2016. View at Publisher · View at Google Scholar