ArticleHuman mutation2013
Genetic abnormalities in FOXP1 are associated with congenital heart defects.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 37 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Testing of Individuals and Families With Congenital Heart Disease
Psychiatric Phenotype Characterization of Individuals With FOXP1 Syndrome
Who cites it
37 citing papers in PubMed, 52 citations in OpenAlex.
- Trial
- Kidney Cyst Epithelia in Tuberous Sclerosis Complex (TSC) Exhibit Propagation and Expansion of A-Intercalated, but Loss of B-Intercalated and Principal Cells: The Role of FOXI1, FOXP1, and DMRT2 Transcription Factors.International journal of molecular sciences · 2026Article
- Luteolin Enhances Endothelial Barrier Function and Attenuates Myocardial Ischemia-Reperfusion Injury via FOXP1-NLRP3 Pathway.International journal of molecular sciences · 2026Article
- Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.NPJ genomic medicine · 2025Article
- Cardiomyocyte Foxp1-Specific Deletion Promotes Post-injury Heart Regeneration via Targeting Usp20-HIF1ɑ-Hand1 Signaling Pathway.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.medRxiv : the preprint server for health sciences · 2025Article
- First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Review
- Role of myofiber-specific FoxP1 in pancreatic cancer-induced muscle wasting.American journal of physiology. Cell physiology · 2025Article
- Genome-Wide Expression Profiling and Phenotypic Analysis of Downstream Targets Identify the Fox Transcription Factor Jumeau as a Master Regulator of Cardiac Progenitor Cell Division.International journal of molecular sciences · 2024Article
- Myofiber-specific FoxP1 knockout protects against pancreatic cancer-induced muscle wasting in male but not female mice.bioRxiv : the preprint server for biology · 2024Article
- Human Genetics of Atrioventricular Septal Defect.Advances in experimental medicine and biology · 2024Review
- Identification of a NovelGenes · 2023Article
- Deacetylation of FOXP1 by HDAC7 potentiates self-renewal of mesenchymal stem cells.Stem cell research & therapy · 2023Article
- Genetic analysis of right heart structure and function in 40,000 people.Nature genetics · 2022Article
- LncRNA PVT1 facilitates DLBCL development via miR-34b-5p/Foxp1 pathway.Molecular and cellular biochemistry · 2022Article
- Targeting the forkhead box protein P1 pathway as a novel therapeutic approach for cardiovascular diseases.Heart failure reviews · 2022Review
- FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.Journal of neurodevelopmental disorders · 2021Review
- FoxP1 is a transcriptional repressor associated with cancer cachexia that induces skeletal muscle wasting and weakness.Journal of cachexia, sarcopenia and muscle · 2021Article
- The Drosophila Forkhead/Fox transcription factor Jumeau mediates specific cardiac progenitor cell divisions by regulating expression of the kinesin Nebbish.Scientific reports · 2021Article
- miR-375-3p contributes to hypoxia-induced apoptosis by targeting forkhead box P1 (FOXP1) and Bcl2 like protein 2 (Bcl2l2) in rat cardiomyocyte h9c2 cells.Biotechnology letters · 2021Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons of FOXP1, a gene critical for normal heart development that represses cardiomyocyte proliferation and expression of Nkx2.5. To determine whether FOXP1 mutations are found in patients with CHD, we sequenced FOXP1 in 82 patients with AVSD or hypoplastic left heart syndrome. We discovered two patients who harbored a heterozygous c.1702C>T variant in FOXP1 that predicted a potentially deleterious substitution of a highly conserved proline (p.Pro568Ser). This variant was not found in 287 controls but is present in dbSNP at a 0.2% frequency. The orthologous murine Foxp1 p.Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD.
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.