ArticleHuman molecular genetics2017
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 35 citations in OpenAlex.
- Retinol dehydrogenase 10-mediated retinoic acid signaling regulates the neural crest cell microenvironment during enteric nervous system formation.Human molecular genetics · 2026Article
- Choanal Atresia in Adult- Endoscopic Surgery and Reconstruction - A Rare Encounter.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2025Article
- Expression analysis of genes including Zfhx4 in mice and zebrafish reveals a temporospatial conserved molecular basis underlying craniofacial development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Jak2 and Jaw Muscles Are Required for Buccopharyngeal Membrane Perforation during Mouth Development.Journal of developmental biology · 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
- Mechanisms of Feedback Regulation of Vitamin A Metabolism.Nutrients · 2022Review
- Branchiomeric Muscle Development Requires Proper Retinoic Acid Signaling.Frontiers in cell and developmental biology · 2021Article
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Perturbed development of cranial neural crest cells in association with reduced sonic hedgehog signaling underlies the pathogenesis of retinoic-acid-induced cleft palate.Disease models & mechanisms · 2019Article
- RDH10 function is necessary for spontaneous fetal mouth movement that facilitates palate shelf elevation.Disease models & mechanisms · 2019Article
- RDH10-mediated retinol metabolism and RARα-mediated retinoic acid signaling are required for submandibular salivary gland initiation.Development (Cambridge, England) · 2018Article
- Choanal Atresia and Craniosynostosis: Development and Disease.Plastic and reconstructive surgery · 2018Review
- A rare case report of bilateral choanal atresia in an adult.International journal of surgery case reports · 2017Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
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Abstract
Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. For example, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the nasal airway and nasopharynx is completely blocked. CA occurs in approximately 1/5000 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, Crouzon and Pfeiffer syndromes. However, the detailed cellular and molecular mechanisms underpinning the etiology and pathogenesis of CA remain elusive. In this study, we discovered that mice with mutations in retinol dehydrogenase 10 (Rdh10), which perturbs Vitamin A metabolism and retinoid signaling, exhibit fully penetrant CA. Interestingly, we demonstrate Rdh10 is specifically required in non-neural crest cells prior to E10.5 for proper choanae formation, and that in the absence of Rdh10, Fgf8 is ectopically expressed in the nasal fin. Furthermore, we found that defects in choanae development are associated with decreased cell proliferation and increased cell death in the epithelium of the developing nasal cavity, which retards invagination of the nasal cavity, and thus appears to contribute to the pathogenesis of CA. Taken together, our findings demonstrate that RDH10 is essential during the early stages of facial morphogenesis for the formation of a functional nasal airway, and furthermore establish Rdh10 mutant mice as an important model system to study CA.
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