Abstract：
:The HOXA1 gene plays a fundamental role in embryonic morphogenesis. Recent studies in humans and mice have indicated that HOXA1 plays a previously unrecognized role in cardiovascular system development. Congenital heart disease (CHD), particularly ventricular septal defect (VSD), might be a clinically isolated manifestation of HOXA1 mutations. The purpose of the present study was to identify potential pathological mutations in the HOXA1 gene in Chinese children with VSD and to gain insight into the etiology of CHD. A total of 340 nonsyndromic VSD patients and 200 normal subjects were sampled. Two exons and the nearby introns of the human HOXA1 gene were amplified using polymerase chain reaction (PCR). The PCR products were purified and directly sequenced. However, no nonsynonymous mutations in the coding regions of the HOXA1 gene were observed: Only two novel synonymous mutations (c.C210T p.His70His, and c.T861A p.Arg287Arg) were found in two patients. Two previously reported single and multiple histidine-deletion variants were identified in both normal and VSD patients. To our knowledge, this is the first study to investigate the role of the HOXA1 gene in CHD. Although our results did not show any pathogenic HOXA1 mutation, our results suggest that VSD might not be a clinically isolated manifestation of HOXA1 mutations.
journal_name
Pediatr Cardioljournal_title
Pediatric cardiologyauthors
Liu J,Wang B,Chen X,Li H,Wang J,Cheng L,Ma X,Gao Bdoi
10.1007/s00246-012-0418-1subject
Has Abstractpub_date
2013-02-01 00:00:00pages
226-30issue
2eissn
0172-0643issn
1432-1971journal_volume
34pub_type
杂志文章,多中心研究abstract：:The proximal course of an anomalously arising coronary artery is a decisive factor in the surgical approach for tetralogy of Fallot (TOF). Studies have shown that echocardiography provides a good anatomic definition of the ostium and proximal epicardial course of coronary arteries [1, 2]. This report describes a case ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0444-z
更新日期：2013-01-01 00:00:00
abstract：:In the fetus, the cardiac neural crest gives rise to both the thymus and the conotruncus of the heart. In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occurrence of T-cell lymphopenia in neonates with or without 22q11.2 delet...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-020-02317-y
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pub_type： 临床试验,杂志文章,随机对照试验
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0449-7
更新日期：2013-02-01 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：2016-02-01 00:00:00
abstract：:Sinus node disease is a problem encountered in patients after the Mustard surgery, requiring a pacemaker implantation. The knowledge of the complexity anatomy is crucial because of the possible challenges associated with this procedure. We report a case of a 24-year-old woman presented with symptomatic bradycardia, in...
journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-015-1155-z
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pub_type： 杂志文章
doi：10.1007/s00246-018-1957-x
更新日期：2019-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-016-1374-y
更新日期：2016-06-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02310569
更新日期：1991-10-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9497-z
更新日期：2009-11-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-013-0716-2
更新日期：2013-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-007-9063-5
更新日期：2008-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-017-1758-7
更新日期：2018-02-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0355-z
更新日期：2012-12-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0224-9
更新日期：2012-06-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-001-5023-7
更新日期：2002-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0201-3
更新日期：2012-06-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-012-0572-5
更新日期：2013-01-01 00:00:00
abstract：:The original version of the article unfortunately contained an alignment error in Table 1. The correct version of Table 1 is given below. ...
journal_title：Pediatric cardiology
pub_type： 杂志文章,已发布勘误
doi：10.1007/s00246-018-1978-5
更新日期：2019-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/BF02310333
更新日期：1995-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-006-1283-6
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journal_title：Pediatric cardiology
pub_type： 杂志文章
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-008-9256-6
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/BF02312963
更新日期：1982-01-01 00:00:00
abstract：:In contrast to the percentile-based definitions of elevated blood pressure (BP) and hypertension for children and adolescents of all ages in the 2004 fourth report, the 2017 American Academy of Pediatrics (AAP) BP guideline recommends a change to single BP cut-offs for clinical diagnosis (120/< 80-129/< 80 mmHg for el...
journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2019-04-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-009-9544-9
更新日期：2010-01-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章,随机对照试验
doi：10.1007/s00246-019-02215-y
更新日期：2019-12-01 00:00:00
abstract：:The American Academy of Pediatrics (AAP) recommends that any child diagnosed with hypertension have an echocardiogram to evaluate for the presence of left-ventricular (LV) hypertrophy (LVH) and advocates that LVH is an indication to initiate or intensify antihypertensive therapy. However, there is no consensus on the ...
journal_title：Pediatric cardiology
pub_type： 杂志文章
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更新日期：2014-04-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-013-0851-9
更新日期：2014-06-01 00:00:00
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journal_title：Pediatric cardiology
pub_type： 杂志文章
doi：10.1007/s00246-017-1723-5
更新日期：2018-01-01 00:00:00
