Jane Hoover-Plow Author
Subjects of specialization
Affiliation
Emilin2 deficiency;
Department of Cellular and Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, USA Department of Molecular Cardiology, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, USA
Department of Cellular and Molecular Medicine, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, USA, Department of Molecular Cardiology, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, USA
Research Article Open Access
Author(s): Anuradha Guggilam, Devaraja Sannaningaiah, Yanqing Gong, Jessica Grondolsky, Menggui Huang, Huigin Nie,Elaine C Davis, Yehe Liu, Michael Jenkins, James Strainic and Jane Hoover-Plow
Background: EMILIN2, elastin microfibril interface located protein 2, is expressed during cardiovascular development, by cardiac stem cells, and in adult animal models of heart disease. In humans, the EMILIN2 gene is located on the short arm of Chromosome 18, and patients with partial or complete deletions of this chromosome region have cardiac malformations. The objective of this study was to evaluate whether the Emilin2 deficient mice have cardiac defects. Methods and results: Cardiac malformations were assessed in adult Emilin2, Emilin1 (EMILIN2 homologue) deficient mice, and Emilin2:Emilin1 double deficient mice. The primary malformation in Emilin2 deficient mice was ventricular septal defects. Although EMILIN1, is also expressed during cardiovascular development,the primary cardiac... view moreĀ»