"Cockayne Syndrome" 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.
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
| Descriptor ID |
D003057
|
| MeSH Number(s) |
C05.116.099.343.250 C10.574.500.362 C16.131.077.250 C16.320.240.562 C16.320.400.200 C18.452.284.250
|
| Concept/Terms |
Cockayne Syndrome- Cockayne Syndrome
- Syndrome, Cockayne
- Progeria-Like Syndrome
- Progeria Like Syndrome
- Progeria-Like Syndromes
- Syndrome, Progeria-Like
- Progeroid Nanism
- Dwarfism-Retinal Atrophy-Deafness Syndrome
Cockayne Syndrome, Type II- Cockayne Syndrome, Type II
- Type II Cockayne Syndrome
- Group B Cockayne Syndrome
- Type B Cockayne Syndrome
- Cockayne Syndrome, Group B
- Cockayne Syndrome, Type B
Cockayne Syndrome, Type III- Cockayne Syndrome, Type III
- Cockayne Syndrome Type C
- Type III Cockayne Syndrome
- Cockayne Syndrome, Type C
- Group C Cockayne Syndrome
- Type C Cockayne Syndrome
- Cockayne Syndrome Type 3
- Cockayne Syndrome, Group C
Cockayne Syndrome, Type I- Cockayne Syndrome, Type I
- Type I Cockayne Syndrome
- Group A Cockayne Syndrome
- Type A Cockayne Syndrome
- Cockayne Syndrome, Group A
- Cockayne Syndrome, Type A
|
Below are MeSH descriptors whose meaning is more general than "Cockayne Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Cockayne Syndrome".
This graph shows the total number of publications written about "Cockayne Syndrome" by people in this website by year, and whether "Cockayne Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cockayne Syndrome" by people in Profiles.
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Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations. Proc Natl Acad Sci U S A. 2020 06 23; 117(25):14127-14138.
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Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke. Pediatr Neurol. 2018 09; 86:73-74.
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Cochlear implantation in pediatric patients with Cockayne Syndrome. Int J Pediatr Otorhinolaryngol. 2018 Mar; 106:64-67.
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Susceptibility-weighted imaging for calcification in Cockayne syndrome. J Pediatr. 2014 Aug; 165(2):416-416.e1.
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Cockayne syndrome group B (CSB) protein: at the crossroads of transcriptional networks. Mech Ageing Dev. 2013 May-Jun; 134(5-6):234-42.
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Sirt1 suppresses RNA synthesis after UV irradiation in combined xeroderma pigmentosum group D/Cockayne syndrome (XP-D/CS) cells. Proc Natl Acad Sci U S A. 2013 Jan 15; 110(3):E212-20.
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CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination. Cell Cycle. 2011 Nov 01; 10(21):3719-30.
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XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations. Cell. 2008 May 30; 133(5):789-800.
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Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur J Hum Genet. 2008 Mar; 16(3):320-7.
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New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability. Mol Cell. 2007 Apr 27; 26(2):162-4.