ArticleHuman molecular genetics2012
Cardiovascular defects in a mouse model of HOXA1 syndrome.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 94 citations in OpenAlex.
- Essential role of NONO-HOXA1-Wnt axis in cardiomyocyte differentiation.Nature communications · 2026Article
- In Vivo Models of Cardiovascular Disease:Biomedicines · 2025Review
- Clinical outcomes in neonates with congenital heart disease with concurrent congenital neurological anomalies.BMC pediatrics · 2025Article
- The role of HOXA1 in cancer and targeted therapy.Medical oncology (Northwood, London, England) · 2025Review
- Article
- Role of HOXA1-4 in the development of genetic and malignant diseases.Biomarker research · 2024Review
- Molecular Pathways and Animal Models of Tetralogy of Fallot and Double Outlet Right Ventricle.Advances in experimental medicine and biology · 2024Review
- Modeling of large-scale hoxbb cluster deletions in zebrafish uncovers a role for segmentation pathways in atrioventricular boundary specification.Cellular and molecular life sciences : CMLS · 2023Article
- Article
- Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.Nature communications · 2023Article
- Congenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics.Frontiers in cardiovascular medicine · 2023Review
- Sclerostin ablation prevents aortic valve stenosis in mice.American journal of physiology. Heart and circulatory physiology · 2022Article
- Article
- Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.Journal of applied genetics · 2021Review
- Excess Provisional Extracellular Matrix: A Common Factor in Bicuspid Aortic Valve Formation.Journal of cardiovascular development and disease · 2021Review
- Genetic and Developmental Contributors to Aortic Stenosis.Circulation research · 2021Review
- Hox Proteins in the Regulation of Muscle Development.Frontiers in cell and developmental biology · 2021Review
- PRMT5 Prevents Cardiomyocyte Hypertrophy via Symmetric Dimethylating HoxA9 and Repressing HoxA9 Expression.Frontiers in pharmacology · 2020Article
- MicroRNA-145 targets in cancer and the cardiovascular system: evidence for common signaling pathways.Vascular biology (Bristol, England) · 2020Review
- A distal enhancer maintaining Hoxa1 expression orchestrates retinoic acid-induced early ESCs differentiation.Nucleic acids research · 2019Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Congenital heart disease is one of the most common human birth defects, yet many genes and pathways regulating heart development remain unknown. A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which are lethal without surgical intervention. Since the discovery of the human syndromes, there have been no reports of any Hox mouse mutants with cardiac defects, hampering studies to explore the developmental causes of the human disease. In this study, we identify severe cardiovascular malformations in a Hox mouse model, which mimic the congenital heart defects in HOXA1 syndrome patients. Hoxa1 null mice show defects such as interrupted aortic arch, aberrant subclavian artery and Tetralogy of Fallot, demonstrating that Hoxa1 is required for patterning of the great arteries and outflow tract of the heart. We show that during early embryogenesis, Hoxa1 is expressed in precursors of cardiac neural crest cells (NCCs), which populate the heart. We further demonstrate that Hoxa1 acts upstream of several genes, important for neural crest specification. Thus, our data allow us to suggest a model in which Hoxa1 regulates heart development through its influence on cardiac NCCs, providing insight into the mechanisms underlying the human disease.
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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.