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Human Genetics of Defects of Situs.
Adv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
Article Synopsis
- Defects of situs are linked to various congenital heart conditions where the usual positioning of thoracic and abdominal organs is disrupted.
- Recent research has discovered mutations in at least 33 different genes in people with these defects, affecting diverse molecular components like transcription factors and ciliary proteins.
- There is significant overlap between genes involved in situs defects and those associated with other congenital heart diseases, highlighting the genetic complexity of these conditions.
A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects.
Genes (Basel)
February 2024
Department of Histology, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Congenital heart defects (CHDs) have had an increasing prevalence over the last decades, being one of the most common congenital defects. Their etiopathogenesis is multifactorial in origin. About 10-15% of all CHD can be attributed to copy number variations (CNVs), a type of submicroscopic structural genetic alterations.
View Article and Find Full Text PDFGenetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.
Children (Basel)
April 2023
Department of Histology, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Congenital heart defects (CHD) are the most common congenital abnormality, with an overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex and still poorly understood.
View Article and Find Full Text PDF4 Deletions Associated with Congenital Heart Diseases in South Brazil.
J Pediatr Genet
June 2021
Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD.
View Article and Find Full Text PDFCopy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.
J Clin Lab Anal
February 2019
Department of Medical Genetics, Liuzhou Maternal and Children Healthcare Hospital, Liuzhou, China.
Background: Congenital heart disease (CHD) is a common birth defect originating from both environmental and genetic factors. An overabundance of copy number variations (CNVs) affecting cardiac-related genes has previously been detected in individuals with CHD.
Objective: To evaluate if the presence of CNVs in the 22q11.
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