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- Q1250362 subject Q6500135.
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- Q1250362 abstract "Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant 1 (AT-V1) 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 why 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.".
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- Q1250362 thumbnail Autosomal_recessive_-_en.svg?width=300.
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- Q1250362 name "Nijmegen breakage syndrome".
- Q1250362 omim "251260".
- Q1250362 type Disease.
- Q1250362 type Thing.
- Q1250362 type Q12136.
- Q1250362 comment "Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant 1 (AT-V1) 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. ".
- Q1250362 label "Nijmegen breakage syndrome".
- Q1250362 depiction Autosomal_recessive_-_en.svg.
- Q1250362 name "Nijmegen breakage syndrome".