Harvard Catalyst Profiles

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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.


This graph shows the total number of publications written about "Nijmegen Breakage Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Nijmegen Breakage Syndrome" was a major or minor topic of these publication.
Bar chart showing 5 publications over 5 distinct years, with a maximum of 1 publications in 2005 and 2007 and 2011 and 2016 and 2021
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.