"Ciliopathies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.
| Descriptor ID |
D000072661
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| MeSH Number(s) |
C16.131.077.245 C16.320.184
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Ciliopathies".
Below are MeSH descriptors whose meaning is more specific than "Ciliopathies".
This graph shows the total number of publications written about "Ciliopathies" by people in this website by year, and whether "Ciliopathies" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Ciliopathies" by people in Profiles.
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Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nat Commun. 2024 Jan 08; 15(1):365.
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Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes. Sci Rep. 2022 12 01; 12(1):20791.
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Super-resolution microscopy reveals photoreceptor-specific subciliary location and function of ciliopathy-associated protein CEP290. JCI Insight. 2021 10 22; 6(20).
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Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome. Neuropediatrics. 2022 06; 53(3):195-199.
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Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Hum Mol Genet. 2020 06 03; 29(9):1489-1497.
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Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis. PLoS One. 2019; 14(8):e0221698.
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genet. 2019 08; 15(8):e1008315.
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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 02; 34(2):375-386.
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Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling. Hum Mol Genet. 2017 08 01; 26(15):2949-2960.
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Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-L?ken syndrome? Vet Pathol. 2015 May; 52(3):580-95.