ArticleDevelopmental cell2013
Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes.
Article in Developmental cell, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 85 citations in OpenAlex.
- Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.Clinical genetics · 2026Article
- Collectin-11 regulates osteoclastogenesis and bone maintenance via a complement-dependent mechanism.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Centriolar protein PIBF1 is required for craniofacial and forebrain development.Developmental biology · 2025Article
- Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.Kidney international reports · 2025Article
- Identification of novel interacting proteins of FUZ and GPR161.bioRxiv : the preprint server for biology · 2025Article
- Fibroblast growth factor 8: Multifaceted role in development and developmental disorder.Genes & diseases · 2025Review
- MLL4 regulates postnatal palate growth and midpalatal suture development.Frontiers in cell and developmental biology · 2025Article
- Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome.International dental journal · 2024Article
- MLL4 regulates postnatal palate growth and midpalatal suture development.bioRxiv : the preprint server for biology · 2024Article
- Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development.Development (Cambridge, England) · 2024Article
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.European journal of human genetics : EJHG · 2024Article
- The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP.Development (Cambridge, England) · 2024Article
- The Fuzzy planar cell polarity protein (FUZ), necessary for primary cilium formation, is essential for pituitary development.Journal of anatomy · 2024Article
- Identification of distinct subpopulations of Gli1-lineage cells in the mouse mandible.Journal of anatomy · 2023Article
- Cleft Palate in Apert Syndrome.Journal of developmental biology · 2022Review
- Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies.Disease models & mechanisms · 2022Article
- Isolation of Whole Cell Protein Lysates from Mouse Facial Processes and Cultured Palatal Mesenchyme Cells for Phosphoprotein Analysis.Journal of visualized experiments : JoVE · 2022Article
- Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.European journal of human genetics : EJHG · 2022Article
- Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways.Journal of developmental biology · 2021Article
- Endocytic Protein Defects in the Neural Crest Cell Lineage and Its Pathway Are Associated with Congenital Heart Defects.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
Ciliopathies are a broad class of human disorders with craniofacial dysmorphology as a common feature. Among these is high arched palate, a condition that affects speech and quality of life. Using the ciliopathic Fuz mutant mouse, we find that high arched palate does not, as commonly suggested, arise from midface hypoplasia. Rather, increased neural crest expands the maxillary primordia. In Fuz mutants, this phenotype stems from dysregulated Gli processing, which in turn results in excessive craniofacial Fgf8 gene expression. Accordingly, genetic reduction of Fgf8 ameliorates the maxillary phenotypes. Similar phenotypes result from mutation of oral-facial-digital syndrome 1 (Ofd1), suggesting that aberrant transcription of Fgf8 is a common feature of ciliopathies. High arched palate is also a prevalent feature of fibroblast growth factor (FGF) hyperactivation syndromes. Thus, our findings elucidate the etiology for a common craniofacial anomaly and identify links between two classes of human disease: FGF-hyperactivation syndromes and ciliopathies.
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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.