ArticleEuropean journal of medical genetics2012
Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.
Article in European journal of medical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- Single Cell Multimodal Analyses Reveal Epigenomic and Transcriptomic Basis for Birth Defects in Maternal Diabetes.Nature cardiovascular research · 2023Article
- DNA methylation entropy is associated with DNA sequence features and developmental epigenetic divergence.Nucleic acids research · 2023Article
- The autism-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice.Scientific reports · 2022Article
- Identifying the Potential Roles of PBX4 in Human Cancers Based on Integrative Analysis.Biomolecules · 2022Article
- Advances in Cardiac Development and Regeneration Using Zebrafish as a Model System for High-Throughput Research.Journal of developmental biology · 2021Review
- A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.Genes · 2021Article
- Identification of Atrial Fibrillation-Associated GenesFrontiers in genetics · 2021Article
- Pbx4 limits heart size and fosters arch artery formation by partitioning second heart field progenitors and restricting proliferation.Development (Cambridge, England) · 2020Article
- 'Building a perfect body': control of vertebrate organogenesis by PBX-dependent regulatory networks.Genes & development · 2019Review
- Functional testing of a humanDisease models & mechanisms · 2018Article
- Single-Cell Transcriptomic Analysis of Cardiac Differentiation from Human PSCs Reveals HOPX-Dependent Cardiomyocyte Maturation.Cell stem cell · 2018Article
- LncRNA-uc.40 silence promotes P19 embryonic cells differentiation to cardiomyocyte via the PBX1 gene.In vitro cellular & developmental biology. Animal · 2018Article
- TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population.Genetic testing and molecular biomarkers · 2017Article
- Article
- Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and risk of myocardial infarction and all-cause mortality in people with type 1 and type 2 diabetes.Cardiovascular diabetology · 2015Observational
- Article
- A cohesin-independent role for NIPBL at promoters provides insights in CdLS.PLoS genetics · 2014Article
- Reactivation of fetal splicing programs in diabetic hearts is mediated by protein kinase C signaling.The Journal of biological chemistry · 2013Article
- Tcf21 regulates the specification and maturation of proepicardial cells.Development (Cambridge, England) · 2013Article
- A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.American journal of medical genetics. Part A · 2012Article
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Authors and funding
4 authors at 1 institution in 1 country.
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Abstract
Congenital cardiac malformations are one of the most common birth defects and most are believed to be multigenic/multifactorial in nature. Recently mice lacking Pre-B cell leukemia transcription homeobox (PBX) genes were created and found to have a range of ventricular outflow tract (OFT) malformations. Therefore, we screened 95 patients with congenital heart defects, including OFT malformations, for variants in genes encoding PBX proteins, as well as interacting proteins. The coding exons of PBX1-4, PKNOX1, PKNOX2, MEIS1-3, and PBXIP1 were amplified by polymerase chain reaction and the products analyzed on a lightscanner. Samples with abnormal melting profiles were analyzed by DNA sequencing. Seven non-synonymous variants (6 novel and 1 SNP) were identified in 5 proteins (Pbx3, Pbx4, Meis1, Meis3 and Pknox1). One Pbx3 variant, p.A136V, is located in a highly conserved polyalanine tract and predicted to be deleterious. This variant was present in 5.2% of heart defect patients compared with 1.3% of 380 race- and ethnicity-matched controls (P<0.05). None of the other variants were predicted to be damaging. In conclusion, our results support the Pbx3 Ala136Val variant as a modifier or risk allele for congenital heart defects and implicate PBX-related genes as candidates for CHD, especially those affecting the cardiac outflow tract.
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