- Abstract:
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AIMS: Deletion of the transcription factor Cited2 causes penetrant and phenotypically heterogenous cardiovascular and laterality defects and adrenal agenesis. Heterozygous human CITED2 mutation is associated with congenital heart disease, suggesting haploinsufficiency. Cited2 functions partly via a Nodal-->Pitx2c pathway controlling left-right patterning. In this present study we investigated the primary site of Cited2 function and mechanisms of haploinsufficiency. METHODS AND RESULTS: A ...
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(pdf, 1.2MB)
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- Publisher copy:
- 10.1093/cvr/cvn101
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- Volume:
- 79
- Issue:
- 3
- Pages:
- 448-457
- Publication date:
- 2008-08-05
- DOI:
- EISSN:
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1755-3245
- ISSN:
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0008-6363
- URN:
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uuid:96bf8a33-354d-4709-b9f0-da7f39e24d2c
- Source identifiers:
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162593
- Local pid:
- pubs:162593
- Keywords:
- Copyright date:
- 2008
Conference
Epiblastic Cited2 deficiency results in cardiac phenotypic heterogeneity and provides a mechanism for haploinsufficiency.
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