Nijmegen breakage syndrome
id:
nijmegen-breakage-syndrome-307-13162799
title:
Nijmegen breakage syndrome
text:
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA. NBS1 codes for a protein (nibrin) that has two major functions: (1) to stop the cell cycle in the S phase, when there are errors in the cell DNA (2) to interact with FANCD2 that can activate the BR
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Nijmegen_breakage_syndrome
date created:
date modified:
2024-03-25T18:23:50Z
main entity:
{"identifier":"Q1250362","url":"https://www.wikidata.org/entity/Q1250362"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/f1/Autosomal_recessive_-_en.svg","width":738,"height":1283}
fields total:
13
integrity:
15