ReviewCurrent opinion in genetics & development2012
The ciliopathies: a transitional model into systems biology of human genetic disease.
Review in Current opinion in genetics & development, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 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
83 citing papers in PubMed.
- Article
- Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.EMBO molecular medicine · 2026Article
- Novel Heterozygous Variant inOphthalmic surgery, lasers & imaging retina · 2026Article
- A type of pancreatic cancer cells form cell clusters from a solitary condition in a primary ciliogenesis-dependent manner.Medical molecular morphology · 2025Article
- The G protein alpha chaperone and guanine-nucleotide exchange factor RIC-8 regulates cilia morphogenesis in Caenorhabditis elegans sensory neurons.PLoS genetics · 2023Article
- Current Status of Next-Generation Sequencing in Bone Genetic Diseases.International journal of molecular sciences · 2023Review
- Primary cilia: a novel research approach to overcome anticancer drug resistance.Frontiers in molecular biosciences · 2023Review
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.Nature communications · 2022Article
- Light-induced asymmetries in embryonic retinal gene expression are mediated by the vascular system and extracellular matrix.Scientific reports · 2022Article
- Polycystin-2 (TRPP2) regulates primary cilium length in LLC-PK1 renal epithelial cells.Frontiers in physiology · 2022Article
- The Cilioprotist Cytoskeleton , a Model for Understanding How Cell Architecture and Pattern Are Specified: Recent Discoveries from Ciliates and Comparable Model Systems.Methods in molecular biology (Clifton, N.J.) · 2022Review
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- The Ocular Gene Delivery Landscape.Biomolecules · 2021Review
- Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.European journal of human genetics : EJHG · 2021Article
- nNOS regulates ciliated cell polarity, ciliary beat frequency, and directional flow in mouse trachea.Life science alliance · 2021Article
- Article
- Strain-Dependent Modifier Genes Determine Survival inG3 (Bethesda, Md.) · 2020Article
- Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.BMC medical genetics · 2020Article
- Regulation of polycystin expression, maturation and trafficking.Cellular signalling · 2020Review
- Desert hedgehog-primary cilia cross talk shapes mitral valve tissue by organizing smooth muscle actin.Developmental biology · 2020Article
23 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
2 authors.
Funding
Abstract
The last decade has witnessed an explosion in the identification of genes, mutations in which appear sufficient to cause clinical phenotypes in humans. This is especially true for disorders of ciliary dysfunction in which an excess of 50 causal loci are now known; this discovery was driven partly by an improved understanding of the protein composition of the cilium and the co-occurrence of clinical phenotypes associated with ciliary dysfunction. Despite this progress, the fundamental challenge of predicting phenotype and or clinical progression based on single locus information remains unsolved. Here, we explore how the combinatorial knowledge of allele quality and quantity, an improved understanding of the biological composition of the primary cilium, and the expanded appreciation of the subcellular roles of this organelle can be synthesized to generate improved models that can explain both causality but also variable penetrance and expressivity.
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.