ArticleHuman molecular genetics2012
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies.
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 52 papers.
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52 citing papers in PubMed, 86 citations in OpenAlex.
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- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.International journal of molecular sciences · 2023Review
- Primary cilia support cartilage regeneration after injury.International journal of oral science · 2023Article
- Deficiency ofFrontiers in cell and developmental biology · 2023Article
- Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex.eLife · 2022Article
- A transgenic Alx4-CreER mouse to analyze anterior limb and nephric duct development.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- Genetic Interaction ofJournal of developmental biology · 2022Article
- Role of Primary Cilia in Bone and Cartilage.Journal of dental research · 2022Article
- The Pleiotropic Intricacies of Hedgehog Signaling: From Craniofacial Patterning to Carcinogenesis.FACE (Thousand Oaks, Calif.) · 2021Article
- Wdpcp regulates cellular proliferation and differentiation in the developing limb via hedgehog signaling.BMC developmental biology · 2021Article
- The molecular complex of ciliary and golgin protein is crucial for skull development.Development (Cambridge, England) · 2021Article
- Wavelet Screening identifies regions highly enriched for differentially methylated loci for orofacial clefts.NAR genomics and bioinformatics · 2021Article
- Thm2 interacts with paralog, Thm1, and sensitizes to Hedgehog signaling in postnatal skeletogenesis.Cellular and molecular life sciences : CMLS · 2021Article
- Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling.Development (Cambridge, England) · 2021Article
- Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021Review
- Mutations in Ciliary Trafficking Genes affect Sonic Hedgehog-dependent Neural Tube Patterning Differentially along the Anterior-Posterior Axis.Neuroscience · 2020Article
- Hedgehog Signaling in Skeletal Development: Roles of Indian Hedgehog and the Mode of Its Action.International journal of molecular sciences · 2020Review
- Cilia in cystic kidney and other diseases.Cellular signalling · 2020Review
- MicroRNA-124-3p suppresses mouse lip mesenchymal cell proliferation through the regulation of genes associated with cleft lip in the mouse.BMC genomics · 2019Article
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
Abstract
Mutations in components of the intraflagellar transport (IFT) machinery required for assembly and function of the primary cilium cause a subset of human ciliopathies characterized primarily by skeletal dysplasia. Recently, mutations in the IFT-A gene IFT144 have been described in patients with Sensenbrenner and Jeune syndromes, which are associated with short ribs and limbs, polydactyly and craniofacial defects. Here, we describe an N-ethyl-N-nitrosourea-derived mouse mutant with a hypomorphic missense mutation in the Ift144 gene. The mutant twinkle-toes (Ift144(twt)) phenocopies a number of the skeletal and craniofacial anomalies seen in patients with human skeletal ciliopathies. Like other IFT-A mouse mutants, Ift144 mutant embryos display a generalized ligand-independent expansion of hedgehog (Hh) signalling, in spite of defective ciliogenesis and an attenuation of the ability of mutant cells to respond to upstream stimulation of the pathway. This enhanced Hh signalling is consistent with cleft palate and polydactyly phenotypes in the Ift144(twt) mutant, although extensive rib branching, fusion and truncation phenotypes correlate with defects in early somite patterning and may reflect contributions from multiple signalling pathways. Analysis of embryos harbouring a second allele of Ift144 which represents a functional null, revealed a dose-dependent effect on limb outgrowth consistent with the short-limb phenotypes characteristic of these ciliopathies. This allelic series of mouse mutants provides a unique opportunity to uncover the underlying mechanistic basis of this intriguing subset of ciliopathies.
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