ArticleTranslational science of rare diseases2019
Clinical characteristics of individual organ system disease in non-motile ciliopathies.
Article in Translational science of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.American journal of human genetics · 2021Pooled it
- Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.International journal of molecular sciences · 2025Review
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
- Clinical burden of hyperphagia, obesity and health outcomes in paediatric individuals with Bardet-Biedl syndrome: A CRIBBS data analysis.Pediatric obesity · 2025Article
- Diseases of the primary cilia: a clinical characteristics review.Pediatric nephrology (Berlin, Germany) · 2025Review
- Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.Biochemical genetics · 2025Article
- Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation.Radiology case reports · 2024Article
- Cilia and Extracellular Vesicles in Brain Development and Disease.Biological psychiatry · 2024Review
- Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.Nature communications · 2024Article
- Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm.Archives of gynecology and obstetrics · 2023Observational
- Transcriptional regulation by the NSL complex enables diversification of IFT functions in ciliated versus nonciliated cells.Science advances · 2023Article
- Novel mutation ofMolecular genetics and metabolism reports · 2022Article
- Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.Molecular neurobiology · 2022Article
- Fetal ciliopathies: a retrospective observational single-center study.Archives of gynecology and obstetrics · 2022Observational
- Primary Cilia Structure Is Prolonged in Enteric Neurons of 5xFAD Alzheimer's Disease Model Mice.International journal of molecular sciences · 2021Article
- Two-dimensional (2D) morphologic measurements can quantify the severity of liver disease in children with autosomal recessive polycystic kidney disease (ARPKD).Abdominal radiology (New York) · 2021Article
- Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.Scientific reports · 2021Article
- Investigating Primary Cilia during Peripheral Nervous System Formation.International journal of molecular sciences · 2021Article
- Ciliopathies: Coloring outside of the lines.American journal of medical genetics. Part A · 2021Article
- The essential role of primary cilia in cerebral cortical development and disorders.Current topics in developmental biology · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oral-facial-digital syndromes, and Jeune chondrodysplasia and other skeletal ciliopathies. Chronic progressive disease of the kidneys, liver, and retina are common features in non-motile ciliopathies. Some ciliopathies also manifest neurological, skeletal, olfactory and auditory defects. Obesity and type 2 diabetes mellitus are characteristic features of Bardet-Biedl and Alström syndromes. Overlapping clinical features and molecular heterogeneity of these ciliopathies render their diagnoses challenging. In this review, we describe the clinical characteristics of individual organ disease for each ciliopathy and provide natural history data on kidney, liver, retinal disease progression and central nervous system function.
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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.