J. Cardiovasc. Dev. Dis. 2014, 1(1), 134-145; doi:10.3390/jcdd1010134
Review

Studies of Genes Involved in Congenital Heart Disease

1email, 2email, 1email, 1email, 1email and 1,* email
Received: 7 February 2014; in revised form: 4 May 2014 / Accepted: 12 May 2014 / Published: 22 May 2014
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.
Abstract: Congenital heart disease (CHD) affects the intricate structure and function of the heart and is one of the leading causes of death in newborns. The genetic basis of CHD is beginning to emerge. Our laboratory has been engaged in identifying mutations in genes linked to CHD both in families and in sporadic cases. Over the last two decades, we have employed linkage analysis, targeted gene sequencing and genome wide association studies to identify genes involved in CHDs. Cardiac specific genes that encode transcription factors and sarcomeric proteins have been identified and linked to CHD. Functional analysis of the relevant mutant proteins has established the molecular mechanisms of CHDs in our studies.
Keywords: congenital heart disease (CHD); heart development; cardiac transcription factors; cardiac sarcomere genes
PDF Full-text Download PDF Full-Text [684 KB, uploaded 22 May 2014 15:15 CEST]

Export to BibTeX |
EndNote


MDPI and ACS Style

Ghosh, T.K.; Granados-Riveron, J.T.; Buxton, S.; Setchfield, K.; Loughna, S.; Brook, J.D. Studies of Genes Involved in Congenital Heart Disease. J. Cardiovasc. Dev. Dis. 2014, 1, 134-145.

AMA Style

Ghosh TK, Granados-Riveron JT, Buxton S, Setchfield K, Loughna S, Brook JD. Studies of Genes Involved in Congenital Heart Disease. Journal of Cardiovascular Development and Disease. 2014; 1(1):134-145.

Chicago/Turabian Style

Ghosh, Tushar K.; Granados-Riveron, Javier T.; Buxton, Sarah; Setchfield, Kerry; Loughna, Siobhan; Brook, J. D. 2014. "Studies of Genes Involved in Congenital Heart Disease." J. Cardiovasc. Dev. Dis. 1, no. 1: 134-145.

J. Cardiovasc. Dev. Dis. EISSN 2308-3425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert