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A crucial new aspect of cardiac morphogenesis: endocardial hematopoiesis.
Front Physiol
December 2024
Department of Cell Physiology, The Jikei University School of Medicine, Tokyo, Japan.
Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.
J Anat
November 2024
School of Life Sciences, Faculty of Medicine and Health Sciences, University of Nottingham, Nottingham, UK.
Congenital heart disease (CHD) has an incidence of approximately 1%. Over the last decade, sequencing studies including large cohorts of individuals with CHD have begun to unravel the genetic mechanisms underpinning CHD. This includes the identification of variants in cyclin-dependent kinase 13 (CDK13), in individuals with syndromic CHD.
View Article and Find Full Text PDFManic Fringe promotes endothelial-to-mesenchymal transition mediated by the Notch signalling pathway during heart valve development.
J Mol Med (Berl)
January 2025
Department of Pediatric Cardiology, The Second Affiliated Hospital, Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Article Synopsis
- The study explores the role of Manic Fringe (MFNG) in heart valve development, specifically its involvement in the endothelial-to-mesenchymal transition (EndMT) process, which is crucial for forming heart valves.
- Researchers found that MFNG promotes EndMT by enhancing the Notch signaling pathway, and its loss leads to abnormal heart and valve development in zebrafish models.
- A mutation in the MFNG gene was identified in patients with congenital heart defects, confirming that MFNG is vital in the development of heart valve malformations and may serve as a target for future diagnosis and treatments.
Prenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- The study discusses the prenatal diagnosis of Jacobsen syndrome in a 41-year-old pregnant woman, which was linked to specific chromosomal abnormalities detected through advanced genetic testing.
- The fetus exhibited multiple congenital anomalies including growth restrictions, heart defects, and physical deformities, prompting amniocentesis for further analysis.
- Chromosome microarray analysis (CMA) revealed significant deletions and duplications in chromosomes 11 and 8, respectively, confirming the diagnosis and illustrating the effectiveness of CMA in identifying complex genetic issues in prenatal cases.
Impact of genetic factors on antioxidant rescue of maternal diabetes-associated congenital heart disease.
JCI Insight
December 2024
Center for Cardiovascular Research, Abigail Wexner Research Institute, and The Heart Center, Nationwide Children's Hospital, Columbus, Ohio, USA.
Congenital heart disease (CHD) affects approximately 1% of live births. Although genetic and environmental etiologic contributors have been identified, the majority of CHD lacks a definitive cause, suggesting the role of gene-environment interactions (GxEs) in disease pathogenesis. Maternal diabetes mellitus (matDM) is among the most prevalent environmental risk factors for CHD.
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