 Ciliopathies
"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 |
|---|
| 2016 | 0 | 1 | 1 | | 2018 | 2 | 0 | 2 | | 2021 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Ciliopathies" by people in Profiles.
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Hoffman HK, Prekeris R. Roles of the actin cytoskeleton in ciliogenesis. J Cell Sci. 2022 05 15; 135(10).
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Bonatto Paese CL, Brooks EC, Aarnio-Peterson M, Brugmann SA. Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling. Development. 2021 02 15; 148(4).
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Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. 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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Boczek NJ, Hopp K, Benoit L, Kraft D, Cousin MA, Blackburn PR, Madsen CD, Oliver GR, Nair AA, Na J, Bianchi DW, Beek G, Harris PC, Pichurin P, Klee EW. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. Eur J Hum Genet. 2018 12; 26(12):1797-1809.
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Meehl JB, Bayless BA, Giddings TH, Pearson CG, Winey M. Tetrahymena Poc1 ensures proper intertriplet microtubule linkages to maintain basal body integrity. Mol Biol Cell. 2016 08 01; 27(15):2394-403.
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