ReviewDisease models & mechanisms2012
Mouse models of ciliopathies: the state of the art.
Review in Disease models & mechanisms, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 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
58 citing papers in PubMed, 93 citations in OpenAlex.
- Primary cilia: sensors of biliary homeostasis and disease.Nature reviews. Gastroenterology & hepatology · 2026Review
- Review
- Advances and Challenges in Modeling Autosomal Dominant Polycystic Kidney Disease: A Focus on Kidney Organoids.Biomedicines · 2025Review
- Myristoylated Neuronal Calcium Sensor-1 captures the preciliary vesicle at distal appendages.eLife · 2025Article
- Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.PLoS biology · 2024Article
- Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity.Investigative ophthalmology & visual science · 2024Article
- The role of cilia during organogenesis in zebrafish.Open biology · 2023Review
- Patient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies.Current topics in developmental biology · 2023Review
- Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.Disease models & mechanisms · 2022Article
- A homozygous in-frame duplication within the LRRCT consensus sequence ofOphthalmic genetics · 2022Article
- Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphicZoological research · 2022Article
- Article
- An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field.Molecular biology of the cell · 2021Review
- Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.European journal of human genetics : EJHG · 2021Article
- Functionathon: a manual data mining workflow to generate functional hypotheses for uncharacterized human proteins and its application by undergraduate students.Database : the journal of biological databases and curation · 2021Article
- The regulatory roles of motile cilia in CSF circulation and hydrocephalus.Fluids and barriers of the CNS · 2021Review
- Three-dimensional assessment of bronchiectasis in a mouse model of mucociliary clearance disorder.ERJ open research · 2021Article
- Loss of Primary Cilia Protein IFT20 Dysregulates Lymphatic Vessel Patterning in Development and Inflammation.Frontiers in cell and developmental biology · 2021Article
- Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021Review
- CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.Scientific reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects.
Indexed as
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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.