Nijmegen Breakage Syndrome
"Nijmegen Breakage 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 chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
| Descriptor ID |
D049932
|
| MeSH Number(s) |
C18.452.284.600
|
| Concept/Terms |
Nijmegen Breakage Syndrome- Nijmegen Breakage Syndrome
- Breakage Syndrome, Nijmegen
- Syndrome, Nijmegen Breakage
- Berlin Breakage Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Nijmegen Breakage Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Nijmegen Breakage Syndrome".
This graph shows the total number of publications written about "Nijmegen Breakage Syndrome" by people in UAMS Profiles by year, and whether "Nijmegen Breakage Syndrome" was a major or minor topic of these publications.
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Below are the most recent publications written about "Nijmegen Breakage Syndrome" by people in Profiles over the past ten years.