ReviewPediatric nephrology (Berlin, Germany)2011
Ciliopathies: an expanding disease spectrum.
Review in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 411 papers.
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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.
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Who cites it
411 citing papers in PubMed, 689 citations in OpenAlex.
- Review
- Three-dimensional approaches to measuring primary cilia in hippocampal neurons: A comparative analysis.Journal of neuropathology and experimental neurology · 2026Article
- The primary cilium at the helm: gatekeeper of TGF-β superfamily signaling in development, homeostasis, and disease.Biochemical Society transactions · 2026Review
- Prenatal Diagnosis of Short Rib-Polydactyly Syndrome (SRPS),Clinical case reports · 2026Article
- Pathophysiological significance of cholesterol in ciliopathies.Fujita medical journal · 2026Article
- Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons.Cell biochemistry and function · 2026Article
- Exploring the Genetic Overlap Between Metabolic Traits and Anorexia Nervosa.Biological psychiatry global open science · 2026Article
- Genetic interaction ofbioRxiv : the preprint server for biology · 2025Article
- Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models.Scientific reports · 2025Article
- Recapitulating Liver Embryology-Lessons to Be Learned for Liver Diseases.Journal of developmental biology · 2025Review
- Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.JCI insight · 2025Article
- Article
- Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.Journal of cell science · 2025Article
- Importin α regulates ciliogenesis and cilia length with implications for Xenopus nephrogenesis.Journal of cell science · 2025Article
- Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Article
- The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation ofbioRxiv : the preprint server for biology · 2025Article
- Identification of New Ciliary Signaling Pathways in the Brain and Insights into Neurological Disorders.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.PLoS genetics · 2025Article
- Ophthalmologic Manifestations in Bardet-Biedl Syndrome: Emerging Therapeutic Approaches.Medicina (Kaunas, Lithuania) · 2025Review
351 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliopathic features have been associated with mutations in over 40 genes to date. However, with over 1,000 polypeptides currently identified within the ciliary proteome, several other disorders associated with this constellation of clinical features will likely be ascribed to mutations in other ciliary genes. The mechanisms underlying many of the disease phenotypes associated with ciliary dysfunction have yet to be fully elucidated. Several elegant studies have crucially demonstrated the dynamic ciliary localisation of components of the Hedgehog and Wnt signalling pathways during signal transduction. Given the critical role of the cilium in transducing "outside-in" signals, it is not surprising therefore, that the disease phenotypes consequent to ciliary dysfunction are a manifestation of aberrant signal transduction. Further investigation is now needed to explore the developmental and physiological roles of aberrant signal transduction in the manifestation of ciliopathy phenotypes. Utilisation of conditional and inducible murine models to delete or overexpress individual ciliary genes in a spatiotemporal and organ/cell-specific manner should help clarify some of the functional roles of ciliary proteins in the manifestation of phenotypic features.
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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.