Mechanisms of cardiac pleiotrophy in cited 2 dificiency

How can a single gene defect present with a varied phenotype- Cited2 gene deletion in the mouse results in pleiotropic, penetrant and variable cardiovascula malformations, laterality defects, adrenal agenesis, neural tube defects and fused cranial ganglia. CITED2 acts as a transcriptional co-activat...

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Main Author:	MacDonald, Simon T.
Published:	University of Oxford 2008
Subjects:	616.1071
Online Access:	http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.490109

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spelling	ndltd-bl.uk-oai-ethos.bl.uk-4901092015-03-20T06:30:13ZMechanisms of cardiac pleiotrophy in cited 2 dificiencyMacDonald, Simon T.2008How can a single gene defect present with a varied phenotype- Cited2 gene deletion in the mouse results in pleiotropic, penetrant and variable cardiovascula malformations, laterality defects, adrenal agenesis, neural tube defects and fused cranial ganglia. CITED2 acts as a transcriptional co-activator, and as transcriptional repressor of PHFIA. Loss of Cited2 has been shown to be associated with increased levels of Vegf-a, a HIFIA target, and reduced levels of the key left-right patteming genes Nodal, Pitxlc, Leftyl in the left lateral piate mesoderm, and Pitx2c in the heart.616.1071University of Oxfordhttp://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.490109Electronic Thesis or Dissertation
collection	NDLTD
sources	NDLTD
topic	616.1071
spellingShingle	616.1071 MacDonald, Simon T. Mechanisms of cardiac pleiotrophy in cited 2 dificiency
description	How can a single gene defect present with a varied phenotype- Cited2 gene deletion in the mouse results in pleiotropic, penetrant and variable cardiovascula malformations, laterality defects, adrenal agenesis, neural tube defects and fused cranial ganglia. CITED2 acts as a transcriptional co-activator, and as transcriptional repressor of PHFIA. Loss of Cited2 has been shown to be associated with increased levels of Vegf-a, a HIFIA target, and reduced levels of the key left-right patteming genes Nodal, Pitxlc, Leftyl in the left lateral piate mesoderm, and Pitx2c in the heart.
author	MacDonald, Simon T.
author_facet	MacDonald, Simon T.
author_sort	MacDonald, Simon T.
title	Mechanisms of cardiac pleiotrophy in cited 2 dificiency
title_short	Mechanisms of cardiac pleiotrophy in cited 2 dificiency
title_full	Mechanisms of cardiac pleiotrophy in cited 2 dificiency
title_fullStr	Mechanisms of cardiac pleiotrophy in cited 2 dificiency
title_full_unstemmed	Mechanisms of cardiac pleiotrophy in cited 2 dificiency
title_sort	mechanisms of cardiac pleiotrophy in cited 2 dificiency
publisher	University of Oxford
publishDate	2008
url	http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.490109
work_keys_str_mv	AT macdonaldsimont mechanismsofcardiacpleiotrophyincited2dificiency
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Mechanisms of cardiac pleiotrophy in cited 2 dificiency

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