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Concept information

disease > genetic disease > hereditary disease > Nijmegen breakage syndrome
disease > tumor > malignant tumor > cancer > Nijmegen breakage syndrome
disease > immunopathology > Nijmegen breakage syndrome
disease > nervous system diseases > Nijmegen breakage syndrome
disease > genetic disease > chromosome fragility > Nijmegen breakage syndrome

Terme préférentiel

Nijmegen breakage syndrome  

Définition(s)

  • 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 (see Homologous recombination).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 BRCA1/BRCA2 pathway of DNA repair. (Wikipedia)

Concept(s) générique(s)

Synonyme(s)

  • Seemanova syndrome type 2

Traductions

URI

http://data.loterre.fr/ark:/67375/VH8-RJPT8CP6-9

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020