ArticleProceedings of the National Academy of Sciences of the United States of America2003
Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 1 of them a synthesis that pooled it.
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Who cites it
72 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.
- Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.Nature communications · 2021Pooled it
- Retinoic acid in health and disease.Signal transduction and targeted therapy · 2026Review
- Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS.International journal of molecular sciences · 2025Article
- Review
- An iPSC-based in vitro model recapitulates human thymic epithelial development and multi-lineage specification.Nature communications · 2025Article
- Tbx1-dependent and independent pathways promote six gene expression downstream of retinoic acid signaling to determine cardiomyocyte number in zebrafish.Developmental biology · 2025Article
- Retinoic acid promotes second heart field addition and regulates ventral aorta patterning in zebrafish.Developmental biology · 2025Article
- Vitamin A supply in the eye and establishment of the visual cycle.Current topics in developmental biology · 2025Review
- Transcriptional and epigenetic characterization of a new in vitro platform to model the formation of human pharyngeal endoderm.Genome biology · 2024Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Out of Line or Altered States? Neural Progenitors as a Target in a Polygenic Neurodevelopmental Disorder.Developmental neuroscience · 2024Review
- STRA6 is essential for induction of vascular smooth muscle lineages in human embryonic cardiac outflow tract development.Cardiovascular research · 2023Article
- Genetically programmed retinoic acid deficiency during gastrulation phenocopies most known developmental defects due to acute prenatal alcohol exposure in FASD.Frontiers in cell and developmental biology · 2023Article
- Bovine Aortic Arch: A Result of Chance or Mandate of Inheritance?The American journal of cardiology · 2022Article
- Craniofacial Phenotypes and Genetics of DiGeorge Syndrome.Journal of developmental biology · 2022Review
- Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly.Frontiers in cell and developmental biology · 2022Article
- Tbx5 driveseLife · 2021Article
- Outflow Tract Formation-Embryonic Origins of Conotruncal Congenital Heart Disease.Journal of cardiovascular development and disease · 2021Review
- Molecular components affecting ocular carotenoid and retinoid homeostasis.Progress in retinal and eye research · 2021Review
- Mechanisms of larynx and vocal fold development and pathogenesis.Cellular and molecular life sciences : CMLS · 2020Review
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinoic acid (RA), the active derivative of vitamin A, is involved in various developmental and homeostatic processes. To define whether certain developmental events are particularly sensitive to a decrease in embryonic RA levels, we generated mice bearing a hypomorphic allele of the RA-synthesizing enzyme Raldh2. The resulting mutant mice, which die perinatally, exhibit the features of the human DiGeorge syndrome (DGS) with heart outflow tract septation defects and anomalies of the aortic arch-derived head and neck arteries, laryngeal-tracheal cartilage defects, and thymus/parathyroid aplasia or hypoplasia. Analysis of Raldh2 hypomorph embryos reveal selective defects of the posterior (third to sixth) branchial arches, including absence or hypoplasia of the corresponding aortic arches and pharyngeal pouches, and local down-regulation of RA-target genes. Thus, a decreased level of embryonic RA (through genetic and/or nutritional causes) could represent a major modifier of the expressivity of human 22q11del-associated DiGeorge/velocardiofacial syndromes and, if severe enough, could on its own lead to the clinical features of the DiGeorge syndrome.
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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.