منابع مشابه
Conotruncal Heart Defects: Altered Tissue Morphology and Hemodynamics
1 Biomedical Engineering Program, College of Engineering and Computing, University of South Carolina, Columbia, SC 29208, USA 2 Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC 29209, USA 3 Department of Pediatrics (Neonatology), Neonatal-Perinatal Research Institute, Duke University Medical Center, Durham, NC 297710, USA 4 Department of Cell...
متن کاملIdentification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects.
GATA binding protein 6 (GATA6) encodes a zinc‑finger transcription factor that is essential for normal heart development. Mutations in this gene lead to conotruncal heart defects associated with cyanotic congenital heart disease; however, it remains unclear whether the mutations in GATA6 are also responsible for the development of the nonsyndromic conotruncal heart defects. The coding region exo...
متن کاملGene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects
Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent tria...
متن کاملGenetic background of congenital conotruncal heart defects--a study of 45 families.
INTRODUCTION The latest achievements in molecular diagnosis create new possibilities for evaluation of congenital abnormalities. AIM To present our preliminary experience with genetic diagnosis of congenital combined conotruncal heart defects. METHODS The analysis comprised 35 families with more than one member suffering from conotruncal heart defects (Group I) and 10 families (Group II) ha...
متن کاملMolecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects
Thoracic aortic dilation (AD) has commonly been described in conotruncal defects (CTDs), such as tetralogy of Fallot, double outlet right ventricle and transposition of the great arteries, and truncus arteriosus. Several theories for this have been devised, but fairly recent data indicate that there is likely an underlying histologic abnormality, similar to that seen in Marfan and other connect...
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ژورنال
عنوان ژورنال: Indonesian Journal of Cardiology
سال: 2016
ISSN: 2620-4762,0126-3773
DOI: 10.30701/ijc.v36i3.481