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NBS1 and its functional role in the DNA damage response.
Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K. Kobayashi J, et al. Among authors: antoccia a. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):855-61. doi: 10.1016/j.dnarep.2004.03.023. DNA Repair (Amst). 2004. PMID: 15279770 Review.
NBS1 interacts with HP1 to ensure genome integrity.
Bosso G, Cipressa F, Moroni ML, Pennisi R, Albanesi J, Brandi V, Cugusi S, Renda F, Ciapponi L, Polticelli F, Antoccia A, di Masi A, Cenci G. Bosso G, et al. Among authors: antoccia a. Cell Death Dis. 2019 Dec 13;10(12):951. doi: 10.1038/s41419-019-2185-x. Cell Death Dis. 2019. PMID: 31836699 Free PMC article.
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A. Berardinelli F, et al. Among authors: antoccia a. Eur J Med Genet. 2007 May-Jun;50(3):176-87. doi: 10.1016/j.ejmg.2007.01.006. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17395558
91 results