ArticleHuman molecular genetics2017
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.
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 39 papers.
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Who cites it
39 citing papers in PubMed, 61 citations in OpenAlex.
- Primary and motile cilia in the efferent ductules: a role for IFT88 in maintaining male fertility.Cellular and molecular life sciences : CMLS · 2026Article
- Progressive tooth pattern changes in Cilk1-deficient mice depending on Hedgehog signaling.International journal of oral science · 2025Article
- Primary cilia shape postnatal astrocyte development through Sonic Hedgehog signaling.Journal of cell science · 2025Article
- Remodelling of supernumerary leaflet primordia leads to bicuspid aortic valve caused by loss of primary cilia.Cardiovascular research · 2025Article
- Impact of Active and Passive Maxillary Plates on Cleft Width Morphology in Unilateral Cleft Lip and Palate: A Prospective Intervention Study.Children (Basel, Switzerland) · 2025Article
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- Ciliary and Non-Ciliary Roles of IFT88 in Development and Diseases.International journal of molecular sciences · 2025Review
- Primary cilia shape postnatal astrocyte development through Sonic Hedgehog signaling.bioRxiv : the preprint server for biology · 2024Article
- Primary cilia are critical for tracheoesophageal septation.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Cilia loss on distinct neuron populations differentially alters cocaine-induced locomotion and reward.Journal of psychopharmacology (Oxford, England) · 2024Article
- Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.Nature communications · 2023Article
- Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.International journal of molecular sciences · 2023Review
- Integrated spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.bioRxiv : the preprint server for biology · 2023Article
- Canonical Wnt signaling regulates soft palate development by mediating ciliary homeostasis.Development (Cambridge, England) · 2023Article
- Primary Cilia: The New Face of Craniofacial Research.Biomolecules · 2022Review
- Article
- Role of Primary Cilia in Bone and Cartilage.Journal of dental research · 2022Article
- Gene regulatory network from cranial neural crest cells to osteoblast differentiation and calvarial bone development.Cellular and molecular life sciences : CMLS · 2022Review
- Post-transcriptional and Post-translational Modifications of Primary Cilia: How to Fine Tune Your Neuronal Antenna.Frontiers in cellular neuroscience · 2022Review
- Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G > C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting. In order to evaluate the function of IFT88 in regulating craniofacial development, we generated Wnt1-Cre;Ift88fl/fl mice to eliminate Ift88 specifically in cranial neural crest (CNC) cells. Wnt1-Cre;Ift88fl/flpups died at birth due to severe craniofacial defects including bilateral cleft lip and palate and tongue agenesis, following the loss of the primary cilia in the CNC-derived palatal mesenchyme. Loss of Ift88 also resulted in a decrease in neural crest cell proliferation during early stages of palatogenesis as well as a downregulation of the Shh signaling pathway in the palatal mesenchyme. Importantly, Osr2KI-Cre;Ift88fl/flmice, in which Ift88 is lost specifically in the palatal mesenchyme, exhibit isolated cleft palate. Taken together, our results demonstrate that IFT88 has a highly conserved function within the primary cilia of the CNC-derived mesenchyme in the lip and palate region in mice and is a strong candidate as an orofacial clefting gene in humans.
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