ArticlePloS one2019
Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 38 citations in OpenAlex.
- Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- mTOR signalling mediates the spinal osteoblast pathotype at the curve apex in adolescent idiopathic scoliosis.Scientific reports · 2026Article
- Primary cilia gene defects in BMSCs induce idiopathic scoliosis.Cellular and molecular life sciences : CMLS · 2025Article
- Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis.Bone reports · 2025Review
- Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.NPJ genomic medicine · 2025Article
- Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Exploring the Potential Roles ofInternational journal of molecular sciences · 2025Article
- Fly Fam161 is an essential centriole and cilium transition zone protein with unique and diverse cell type-specific localizations.Open biology · 2024Article
- Inherited genetic predisposition and imaging concordance in degenerative lumbar scoliosis patients and their descendants.Journal of orthopaedic surgery and research · 2024Article
- Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.The Journal of clinical investigation · 2024Article
- CCDC15 localizes to the centriole inner scaffold and controls centriole length and integrity.The Journal of cell biology · 2023Article
- Genetic Variants Associated with Longitudinal Cognitive Performance in Older Breast Cancer Patients and Controls.Cancers · 2023Article
- Calcineurin associates with centrosomes and regulates cilia length maintenance.Journal of cell science · 2023Article
- Advances in genetic factors of adolescent idiopathic scoliosis: a bibliometric analysis.Frontiers in pediatrics · 2023Review
- Altered mechanotransduction in adolescent idiopathic scoliosis osteoblasts: an exploratory in vitro study.Scientific reports · 2022Article
- KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression.Cancer communications (London, England) · 2021Article
- Prevalence ofGenes · 2021Article
- Article
- Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.Human mutation · 2021Article
- Turning the Curve Into Straight: Phenogenetics of the Spine Morphology and Coordinate Maintenance in the Zebrafish.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Adolescent Idiopathic Scoliosis (AIS) is a spinal deformity that affects approximately 3 percent of human adolescents. Although the etiology and molecular basis of AIS is unclear, several genes such as POC5 have been identified as possible causes of the condition. In order to understand the role of POC5 in the pathogenesis of AIS, we investigated the subcellular localization of POC5 in cilia of cells over-expressing either the wild type (wt) or an AIS-related POC5 variant POC5A429V. Mutation of POC5 was found to alter its subcellular localization and to induce ciliary retraction. Furthermore, we observed an impaired cell-cycle progression with the accumulation of cells in the S-phase in cells expressing POC5A429V. Using immunoprecipitation coupled to mass spectrometry, we identified specific protein interaction partners of POC5, most of which were components of cilia and cytoskeleton. Several of these interactions were altered upon mutation of POC5. Altogether, our results demonstrate major cellular alterations, disturbances in centrosome protein interactions and cilia retraction in cells expressing an AIS-related POC5 mutation. Our study suggests that defects in centrosomes and cilia may underlie AIS pathogenesis.
Indexed as
Identifiers
What OpenQuestion holds
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.