What does nijmegen breakage syndrome mean?

Definitions for nijmegen breakage syndrome
nij·me·gen break·age syn·drome

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Wikidata

  1. Nijmegen breakage syndrome

    Nijmegen breakage syndrome, also known as Berlin breakage syndrome and Seemanova syndrome, 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. NBS1 codes for a protein that has two major functions: to stop the cell cycle in the S phase, when there are errors in the cell DNA to interact with FANCD2 that can activate the BRCA1/BRCA2 pathway of DNA repair. This explains clearly that mutations in the NBS1 gene lead to higher levels of cancer The name derives from the Dutch city Nijmegen where the condition was first described. Most people with NBS have West Slavic origins. The largest number of them live in Poland. Mrs Seemanova MD after whom the name of the syndrome was given, currently works at Motol Hospital, Prague, Czech Republic, as a Professor of medical genetics.

U.S. National Library of Medicine

  1. Nijmegen Breakage Syndrome

    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.

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Numerology

  1. Chaldean Numerology

    The numerical value of nijmegen breakage syndrome in Chaldean Numerology is: 9

  2. Pythagorean Numerology

    The numerical value of nijmegen breakage syndrome in Pythagorean Numerology is: 6

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"nijmegen breakage syndrome." Definitions.net. STANDS4 LLC, 2024. Web. 28 Mar. 2024. <https://www.definitions.net/definition/nijmegen+breakage+syndrome>.

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