ReviewEuropean journal of pediatrics2012
Educational paper: ciliopathies.
Review in European journal of pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 69 citations in OpenAlex.
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Coordination of IFT20 With Other IFT Components Is Required for Ciliogenesis.Journal of clinical laboratory analysis · 2025Article
- Extrarenal manifestations in inherited kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Review
- Deletion of Aurora kinase A prevents the development of polycystic kidney disease in mice.Nature communications · 2024Article
- Article
- Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.Kidney international reports · 2022Article
- Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.Iranian journal of child neurology · 2022Article
- Exploring the Spectrum of Kidney Ciliopathies.Diagnostics (Basel, Switzerland) · 2020Review
- Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.American journal of human genetics · 2019Article
- Neonatal polycystic kidney disease, a potential life-threatening condition at this age: A case report.Medicine · 2019Article
- Examining the Role of Polymorphisms in Exon 25 of theReports of biochemistry & molecular biology · 2019Article
- Hearing loss and renal syndromes.Pediatric nephrology (Berlin, Germany) · 2018Review
- Zebrafish as a Model for Drug Screening in Genetic Kidney Diseases.Frontiers in pediatrics · 2018Review
- Network for Early Onset Cystic Kidney Diseases-A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood.Frontiers in pediatrics · 2018Article
- Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease.Frontiers in pediatrics · 2017Review
- Characterizing the morbid genome of ciliopathies.Genome biology · 2016Article
- Senior Loken Syndrome.Journal of clinical and diagnostic research : JCDR · 2016Article
- ATP4a is required for development and function of the Xenopus mucociliary epidermis - a potential model to study proton pump inhibitor-associated pneumonia.Developmental biology · 2015Article
- Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective.Molecular genetics and genomics : MGG · 2015Review
- DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.Scientific reports · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies. Literally, all organs can be affected. Frequent cilia-related manifestations are (poly)cystic kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous system, occurring either isolated or as part of syndromes. Characterization of ciliopathies and the decisive role of primary cilia in signal transduction and cell division provides novel insights into tumorigenesis, mental retardation, and other common causes of morbidity and mortality, including diabetes mellitus and obesity. New technologies ("Next generation sequencing/NGS") have considerably improved genetic research and diagnostics by allowing simultaneous investigation of all disease genes at reduced costs and lower turn-around times. This is undoubtedly a result of the dynamic development in the field of human genetics and deserves increased attention in genetic counselling and the management of affected families.
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.