Nijmegen breakage 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. 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 why 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.
À propos de Berlin Syndrome
Psychological horror film that sees a photojournalist become trapped in an obsessive relationship in Berlin. The film was directed by Cate Shortland from a screenplay by Shaun Grant.
Réalisation de Berlin Syndrome
The movie is based on Melanie Joosten's Berlin Syndrome. It premiered at the 2017 Sundance Film Festival.
Principaux faits que vous ne saviez pas sur Berlin Syndrome
IUIS-PID table 3 immunodeficiencies.. DNA replication and repair-deficiency disorders.. Chromosome instability syndromes.. Autosomal recessive disorders.
Dernières informations sur Berlin Syndrome mis à jour le 12 Janvier, 2023.
