Abstract：
:Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the numerous studies undertaken to functionally characterize these TFs, their exact role in different stages of cardiogenesis is still not fully elucidated. Here we focused on HEY2, a basic helix loop helix transcriptional repressor, and its potential role in human ventricular septal defects. Genetic analysis was performed based on sequencing of DNA and cDNA obtained from post-operational cardiac tissues and blood of 17 Lebanese patients with various CHDs. The screen covered the entire coding regions of the GATA4, NKX2.5, TBX5, TBX20 and HEY2 genes. Our results revealed two novel somatic mutations, namely p.Ala229Thr and p.161_190 del, affecting HEY2 in the diseased cardiac tissues of two patients with VSD. These results suggest a potential role of HEY2 in regulating ventricular septation in humans.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Fardoun M,Dehaini H,Kamar A,Bitar F,Majdalani M,El-Rassi I,Nemer G,Arabi Mdoi
10.1007/s00246-019-02099-ysubject
Has Abstractpub_date
2019-06-01 00:00:00pages
1084-1091issue
5eissn
0172-0643issn
1432-1971pii
10.1007/s00246-019-02099-yjournal_volume
40pub_type
杂志文章abstract：:Branch pulmonary artery stenosis is a common problem in pediatric cardiology. Treatment has included surgery, balloon angioplasty, and balloon expandable stent placement. It was the purpose of this investigation to demonstrate the cost-effectiveness of each of these modes of treatment. From 1983 to 1994 there were 30 ...
journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-017-1797-0
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journal_title：Pediatric cardiology
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journal_title：Pediatric cardiology
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更新日期：2002-01-01 00:00:00
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更新日期：2004-09-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-014-0869-7
更新日期：2014-06-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2019-03-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0309-5
更新日期：2012-12-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
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更新日期：2007-03-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-007-9132-9
更新日期：2008-03-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章,评审
doi：10.1007/BF02083294
更新日期：1989-10-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0179-x
更新日期：2012-08-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-018-1871-2
更新日期：2018-08-01 00:00:00
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更新日期：1996-05-01 00:00:00
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更新日期：2008-11-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-018-1971-z
更新日期：2019-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2011-10-01 00:00:00
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journal_title：Pediatric cardiology
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更新日期：1997-01-01 00:00:00
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更新日期：2019-08-01 00:00:00
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更新日期：2013-04-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2011-06-01 00:00:00
