Huigin Nie Author

Research Article Open Access

Cardiac Malformations in EMILIN2 Deficient Mice

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 more»

DOI: 10.4172/2324-8602.1000277

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