ReviewProceedings of the American Thoracic Society2011
Spectrum of clinical diseases caused by disorders of primary cilia.
Review in Proceedings of the American Thoracic Society, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 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
63 citing papers in PubMed.
- Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.Scientific reports · 2025Article
- Novel PathogenicJournal of pediatric genetics · 2023Article
- Zebrafish crocc2 mutants exhibit divergent craniofacial shape, misregulated variability, and aberrant cartilage morphogenesis.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- The complex relationship of Wnt-signaling pathways and cilia.Current topics in developmental biology · 2023Article
- Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.Scientific reports · 2022Article
- The Primary Ciliary Deficits in Cerebellar Bergmann Glia of the Mouse Model of Fragile X Syndrome.Cerebellum (London, England) · 2022Article
- Post-operative Morbidity and Mortality After Fontan Procedure in Patients with Heterotaxy and Other Situs Anomalies.Pediatric cardiology · 2022Article
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.Autophagy · 2022Article
- Expanding the Phenotype of theGenes · 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
- A role for primary cilia in coral calcification?Cell and tissue research · 2021Article
- A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.Human genetics · 2021Review
- The essential role of primary cilia in cerebral cortical development and disorders.Current topics in developmental biology · 2021Review
- Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer.International journal of molecular sciences · 2020Review
- Physiological and Pathophysiological Aspects of Primary Cilia-A Literature Review with View on Functional and Structural Relationships in Cartilage.International journal of molecular sciences · 2020Review
- Optic vesicle morphogenesis requires primary cilia.Developmental biology · 2020Article
- MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders.EMBO molecular medicine · 2020Article
- Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
The ciliopathies are a category of diseases caused by disruption of the physiological functions of cilia. Ciliary dysfunction results in a broad range of phenotypes, including renal, hepatic, and pancreatic cyst formation; situs abnormalities; retinal degeneration; anosmia; cerebellar or other brain anomalies; postaxial polydactyly; bronchiectasis; and infertility. The specific clinical features are dictated by the subtype, structure, distribution, and function of the affected cilia. This review highlights the clinical variability caused by dysfunction of motile and nonmotile primary cilia and emphasizes the genetic heterogeneity and phenotypic overlap that are characteristics of these disorders. There is a need for additional research to understand the shared and unique functions of motile and nonmotile cilia and the pathophysiology resulting from mutations in cilia, basal bodies, or centrosomes. Increased understanding of ciliary biology will improve the diagnosis and management of primary ciliary dyskinesia, syndromic ciliopathies, and cilia-related cystic diseases.
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.