ArticleScientific reports2017
Identification of Elongated Primary Cilia with Impaired Mechanotransduction in Idiopathic Scoliosis Patients.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 49 citations in OpenAlex.
- Article
- The notochord: development, disease and stem cell-based modelling.Development (Cambridge, England) · 2026Review
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- Primary cilia gene defects in BMSCs induce idiopathic scoliosis.Cellular and molecular life sciences : CMLS · 2025Article
- Loss of Tyrosine Phosphatase Mu Promotes Scoliosis Progression Through Osteopontin-α5β1 Integrin Signaling and PIPK1γ90 Activity.International journal of molecular sciences · 2025Article
- Article
- Skeletal ciliopathy: pathogenesis and related signaling pathways.Molecular and cellular biochemistry · 2024Review
- Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant inMolecular syndromology · 2024Article
- Idiopathic adolescent scoliosis and obesity: prevalence study.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2023Article
- Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a newiScience · 2022Article
- Altered mechanotransduction in adolescent idiopathic scoliosis osteoblasts: an exploratory in vitro study.Scientific reports · 2022Article
- Cerebrospinal fluid velocity changes of idiopathic scoliosis: a preliminary study on 3-T PC-MRI and 3D-SPACE-VFAM data.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Case Report:Frontiers in genetics · 2022Article
- Oligodendroglial primary cilium heterogeneity during development and demyelination/remyelination.Frontiers in cellular neuroscience · 2022Article
- Role of Primary Cilia in Skeletal Disorders.Stem cells international · 2022Review
- Prevalence ofGenes · 2021Article
- Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.Scientific reports · 2021Article
- Estrogen withdrawal alters cytoskeletal and primary ciliary dynamics resulting in increased Hedgehog and osteoclastogenic paracrine signalling in osteocytes.Scientific reports · 2021Article
- The orthopedic characterization of cfap298Scientific reports · 2021Article
- Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.Human mutation · 2021Article
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Authors and funding
5 authors at 5 institutions in 2 countries.
Funding
Abstract
The primary cilium is an outward projecting antenna-like organelle with an important role in bone mechanotransduction. The capacity to sense mechanical stimuli can affect important cellular and molecular aspects of bone tissue. Idiopathic scoliosis (IS) is a complex pediatric disease of unknown cause, defined by abnormal spinal curvatures. We demonstrate significant elongation of primary cilia in IS patient bone cells. In response to mechanical stimulation, these IS cells differentially express osteogenic factors, mechanosensitive genes, and signaling genes. Considering that numerous ciliary genes are associated with a scoliosis phenotype, among ciliopathies and knockout animal models, we expected IS patients to have an accumulation of rare variants in ciliary genes. Instead, our SKAT-O analysis of whole exomes showed an enrichment among IS patients for rare variants in genes with a role in cellular mechanotransduction. Our data indicates defective cilia in IS bone cells, which may be linked to heterogeneous gene variants pertaining to cellular mechanotransduction.
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