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- Nijmegen_breakage_syndrome abstract "Nijmegen breakage syndrome (NBS), 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 and/or the Synthesis Dependent Strand Annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).NBS1 codes for a protein 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. This explains clearly that mutations in the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome...)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.Dr Seemanová MD, after whom the name of the syndrome was named, currently works at Motol Hospital, Prague, Czech Republic, as a professor of medical genetics.".
- Nijmegen_breakage_syndrome meshId "D049932".
- Nijmegen_breakage_syndrome omim "251260".
- Nijmegen_breakage_syndrome thumbnail Autosomal_recessive_-_en.svg?width=300.
- Nijmegen_breakage_syndrome wikiPageExternalLink homepage.htm.
- Nijmegen_breakage_syndrome wikiPageID "3713086".
- Nijmegen_breakage_syndrome wikiPageLength "5498".
- Nijmegen_breakage_syndrome wikiPageOutDegree "35".
- Nijmegen_breakage_syndrome wikiPageRevisionID "676370729".
- Nijmegen_breakage_syndrome wikiPageWikiLink Autosome.
- Nijmegen_breakage_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Nijmegen_breakage_syndrome wikiPageWikiLink Category:Chromosome_instability_syndromes.
- Nijmegen_breakage_syndrome wikiPageWikiLink Category:DNA_replication_and_repair-deficiency_disorders.
- Nijmegen_breakage_syndrome wikiPageWikiLink Category:IUIS-PID_table_3_immunodeficiencies.
- Nijmegen_breakage_syndrome wikiPageWikiLink Category:Rare_diseases.
- Nijmegen_breakage_syndrome wikiPageWikiLink Category:Syndromes.
- Nijmegen_breakage_syndrome wikiPageWikiLink Chromosome.
- Nijmegen_breakage_syndrome wikiPageWikiLink Chromosome_8_(human).
- Nijmegen_breakage_syndrome wikiPageWikiLink Chromosome_instability.
- Nijmegen_breakage_syndrome wikiPageWikiLink Congenital_disorder.
- Nijmegen_breakage_syndrome wikiPageWikiLink Czech_Republic.
- Nijmegen_breakage_syndrome wikiPageWikiLink DNA_repair.
- Nijmegen_breakage_syndrome wikiPageWikiLink Dominance_(genetics).
- Nijmegen_breakage_syndrome wikiPageWikiLink Gene.
- Nijmegen_breakage_syndrome wikiPageWikiLink Genetic_carrier.
- Nijmegen_breakage_syndrome wikiPageWikiLink Holliday_junction.
- Nijmegen_breakage_syndrome wikiPageWikiLink Homologous_recombination.
- Nijmegen_breakage_syndrome wikiPageWikiLink Immunodeficiency.
- Nijmegen_breakage_syndrome wikiPageWikiLink Infertility.
- Nijmegen_breakage_syndrome wikiPageWikiLink Meiosis.
- Nijmegen_breakage_syndrome wikiPageWikiLink Microcephaly.
- Nijmegen_breakage_syndrome wikiPageWikiLink Motol_Hospital.
- Nijmegen_breakage_syndrome wikiPageWikiLink Mutation.
- Nijmegen_breakage_syndrome wikiPageWikiLink NBS1.
- Nijmegen_breakage_syndrome wikiPageWikiLink Nibrin.
- Nijmegen_breakage_syndrome wikiPageWikiLink Nijmegen.
- Nijmegen_breakage_syndrome wikiPageWikiLink Nonsense_mutation.
- Nijmegen_breakage_syndrome wikiPageWikiLink Poland.
- Nijmegen_breakage_syndrome wikiPageWikiLink Prague.
- Nijmegen_breakage_syndrome wikiPageWikiLink Radiation.
- Nijmegen_breakage_syndrome wikiPageWikiLink Somatic_cell.
- Nijmegen_breakage_syndrome wikiPageWikiLink West_Slavs.
- Nijmegen_breakage_syndrome wikiPageWikiLink File:Autosomal_recessive_-_en.svg.
- Nijmegen_breakage_syndrome wikiPageWikiLinkText "Nijmegen breakage syndrome".
- Nijmegen_breakage_syndrome wikiPageWikiLinkText "nijmegen breakage syndrome".
- Nijmegen_breakage_syndrome diseasesdb "32395".
- Nijmegen_breakage_syndrome emedicinesubj "derm".
- Nijmegen_breakage_syndrome emedicinetopic "725".
- Nijmegen_breakage_syndrome hasPhotoCollection Nijmegen_breakage_syndrome.
- Nijmegen_breakage_syndrome meshid "D049932".
- Nijmegen_breakage_syndrome name "Nijmegen breakage syndrome".
- Nijmegen_breakage_syndrome omim "251260".
- Nijmegen_breakage_syndrome wikiPageUsesTemplate Template:DNA_repair-deficiency_disorder.
- Nijmegen_breakage_syndrome wikiPageUsesTemplate Template:GeneTests.
- Nijmegen_breakage_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Nijmegen_breakage_syndrome wikiPageUsesTemplate Template:RareDiseases.
- Nijmegen_breakage_syndrome wikiPageUsesTemplate Template:Reflist.
- Nijmegen_breakage_syndrome subject Category:Autosomal_recessive_disorders.
- Nijmegen_breakage_syndrome subject Category:Chromosome_instability_syndromes.
- Nijmegen_breakage_syndrome subject Category:DNA_replication_and_repair-deficiency_disorders.
- Nijmegen_breakage_syndrome subject Category:IUIS-PID_table_3_immunodeficiencies.
- Nijmegen_breakage_syndrome subject Category:Rare_diseases.
- Nijmegen_breakage_syndrome subject Category:Syndromes.
- Nijmegen_breakage_syndrome hypernym Disorder.
- Nijmegen_breakage_syndrome type Disease.
- Nijmegen_breakage_syndrome type Disorder.
- Nijmegen_breakage_syndrome type Syndrome.
- Nijmegen_breakage_syndrome type Thing.
- Nijmegen_breakage_syndrome type Q12136.
- Nijmegen_breakage_syndrome comment "Nijmegen breakage syndrome (NBS), 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 and/or the Synthesis Dependent Strand Annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).NBS1 codes for a protein 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. ".
- Nijmegen_breakage_syndrome label "Nijmegen breakage syndrome".
- Nijmegen_breakage_syndrome sameAs Nijmegen-Breakage-Syndrom.
- Nijmegen_breakage_syndrome sameAs Síndrome_de_Nijmegen.
- Nijmegen_breakage_syndrome sameAs Nijmegenin_murtumaoireyhtymä.
- Nijmegen_breakage_syndrome sameAs Syndrome_de_Nimègue.
- Nijmegen_breakage_syndrome sameAs Zespół_Nijmegen.
- Nijmegen_breakage_syndrome sameAs m.09wrvw.
- Nijmegen_breakage_syndrome sameAs Синдром_повреждения_Неймегена.
- Nijmegen_breakage_syndrome sameAs Синдром_Ніймеген.
- Nijmegen_breakage_syndrome sameAs Q1250362.
- Nijmegen_breakage_syndrome sameAs Q1250362.
- Nijmegen_breakage_syndrome wasDerivedFrom Nijmegen_breakage_syndrome?oldid=676370729.
- Nijmegen_breakage_syndrome depiction Autosomal_recessive_-_en.svg.
- Nijmegen_breakage_syndrome isPrimaryTopicOf Nijmegen_breakage_syndrome.
- Nijmegen_breakage_syndrome name "Nijmegen breakage syndrome".