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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. 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. 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.".
- Nijmegen_breakage_syndrome diseasesdb "32395".
- Nijmegen_breakage_syndrome emedicineSubject "derm".
- Nijmegen_breakage_syndrome emedicineTopic "725".
- Nijmegen_breakage_syndrome meshId "D049932".
- Nijmegen_breakage_syndrome omim "251260".
- Nijmegen_breakage_syndrome thumbnail Autorecessive.jpg?width=300.
- Nijmegen_breakage_syndrome wikiPageExternalLink homepage.htm.
- Nijmegen_breakage_syndrome wikiPageID "3713086".
- Nijmegen_breakage_syndrome wikiPageRevisionID "560871214".
- 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 wordnet_type synset-disease-noun-1.
- 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 type Abstraction100002137.
- Nijmegen_breakage_syndrome type Attribute100024264.
- Nijmegen_breakage_syndrome type AutosomalRecessiveDisorders.
- Nijmegen_breakage_syndrome type ChromosomeInstabilitySyndromes.
- Nijmegen_breakage_syndrome type Cognition100023271.
- Nijmegen_breakage_syndrome type Complex105870365.
- Nijmegen_breakage_syndrome type Concept105835747.
- Nijmegen_breakage_syndrome type Condition113920835.
- Nijmegen_breakage_syndrome type Content105809192.
- Nijmegen_breakage_syndrome type Disorder114052403.
- Nijmegen_breakage_syndrome type IUIS-PIDTable3Immunodeficiencies.
- Nijmegen_breakage_syndrome type Idea105833840.
- Nijmegen_breakage_syndrome type Immunodeficiency113974317.
- Nijmegen_breakage_syndrome type ImmunologicalDisorder113973990.
- Nijmegen_breakage_syndrome type PhysicalCondition114034177.
- Nijmegen_breakage_syndrome type PsychologicalFeature100023100.
- Nijmegen_breakage_syndrome type State100024720.
- Nijmegen_breakage_syndrome type Syndrome105870790.
- Nijmegen_breakage_syndrome type Syndromes.
- Nijmegen_breakage_syndrome type Whole105869584.
- Nijmegen_breakage_syndrome type Disease.
- Nijmegen_breakage_syndrome type AilmentCondition.
- Nijmegen_breakage_syndrome type Situation.
- 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. 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 label "Nijmegen-Breakage-Syndrom".
- Nijmegen_breakage_syndrome label "Syndrome de Nimègue".
- Nijmegen_breakage_syndrome label "Síndrome de Nijmegen".
- Nijmegen_breakage_syndrome label "Zespół Nijmegen".
- Nijmegen_breakage_syndrome sameAs Nijmegen-Breakage-Syndrom.
- Nijmegen_breakage_syndrome sameAs Síndrome_de_Nijmegen.
- Nijmegen_breakage_syndrome sameAs Syndrome_de_Nimègue.
- Nijmegen_breakage_syndrome sameAs Zespół_Nijmegen.
- Nijmegen_breakage_syndrome sameAs m.09wrvw.
- Nijmegen_breakage_syndrome sameAs Q1250362.
- Nijmegen_breakage_syndrome sameAs Q1250362.
- Nijmegen_breakage_syndrome sameAs 841.
- Nijmegen_breakage_syndrome sameAs Nijmegen_breakage_syndrome.
- Nijmegen_breakage_syndrome wasDerivedFrom Nijmegen_breakage_syndrome?oldid=560871214.
- Nijmegen_breakage_syndrome depiction Autorecessive.jpg.
- Nijmegen_breakage_syndrome isPrimaryTopicOf Nijmegen_breakage_syndrome.
- Nijmegen_breakage_syndrome name "Nijmegen breakage syndrome".