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J. Cardiovasc. Dev. Dis. 2014, 1(1), 134-145; doi:10.3390/jcdd1010134
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Studies of Genes Involved in Congenital Heart Disease

1
, 2
, 1
, 1
, 1
 and 1,*
1 Institute of Genetics, School of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK 2 Laboratory of Genomics, Genetics and Bioinformatics, Hemato-Oncology and Research Unit, Hospital Infantil de México Federico Gómez, Dr Márquez 162, Col. Doctores 06720, Mexico City, Mexico
* Author to whom correspondence should be addressed.
Received: 7 February 2014 / Revised: 4 May 2014 / Accepted: 12 May 2014 / Published: 22 May 2014
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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 congenital heart disease (CHD); heart development; cardiac transcription factors; cardiac sarcomere genes
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.

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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.

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