"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 | 2 | 1 | 3 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Ciliopathies" by people in Profiles.
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The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies. Annu Rev Genomics Hum Genet. 2022 08 31; 23:301-329.
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Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome. Nat Cell Biol. 2017 Oct; 19(10):1178-1188.
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The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. Dev Cell. 2017 07 10; 42(1):22-36.e12.
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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36.