NBS1
出典: フリー百科事典『ウィキペディア(Wikipedia)』 (2023/03/10 16:54 UTC 版)
NBS1(Nijmegen breakage syndrome 1)もしくはニブリン(nibrin、NBN)は、ヒトではNBN遺伝子にコードされるタンパク質である[5][6][7]。
- ^ a b c GRCh38: Ensembl release 89: ENSG00000104320 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028224 - Ensembl, May 2017
- ^ Human PubMed Reference:
- ^ Mouse PubMed Reference:
- ^ “Entrez Gene: Nibrin”. 2023年2月25日閲覧。
- ^ “Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome”. Cell 93 (3): 467–76. (May 1998). doi:10.1016/S0092-8674(00)81174-5. PMID 9590180.
- ^ “The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response”. Cell 93 (3): 477–86. (May 1998). doi:10.1016/S0092-8674(00)81175-7. PMID 9590181.
- ^ “Atlas of Genetics and Cytogenetics in Oncology and Haematology - NBS1”. 2008年2月12日閲覧。
- ^ a b c “eMedicine - Nijmegen Breakage Syndrome”. 2008年2月12日閲覧。
- ^ “Molecular Biology”. 2006年11月1日時点のオリジナルよりアーカイブ。2008年2月23日閲覧。
- ^ “Molecular mechanism of the recruitment of NBS1/hMRE11/hRAD50 complex to DNA double-strand breaks: NBS1 binds to gamma-H2AX through FHA/BRCT domain”. J. Radiat. Res. 45 (4): 473–8. (2004). Bibcode: 2004JRadR..45..473K. doi:10.1269/jrr.45.473. PMID 15635255.
- ^ “Fertility defects revealing germline biallelic nonsense NBN mutations”. Hum. Mutat. 30 (3): 424–30. (2009). doi:10.1002/humu.20904. PMID 19105185.
- ^ a b “Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair”. EMBO J. 21 (6): 1447–55. (2002). doi:10.1093/emboj/21.6.1447. PMC 125926. PMID 11889050 .
- ^ a b “NBS1 is involved in DNA repair and plays a synergistic role with ATM in mediating meiotic homologous recombination in plants”. Plant J. 52 (1): 41–52. (2007). doi:10.1111/j.1365-313X.2007.03220.x. PMID 17672843.
- ^ “Homology and enzymatic requirements of microhomology-dependent alternative end joining”. Cell Death Dis 6 (3): e1697. (2015). doi:10.1038/cddis.2015.58. PMC 4385936. PMID 25789972 .
- ^ “NBN gain is predictive for adverse outcome following image-guided radiotherapy for localized prostate cancer”. Oncotarget 5 (22): 11081–90. (2014). doi:10.18632/oncotarget.2404. PMC 4294365. PMID 25415046 .
- ^ “Clinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancer”. Hepatol Int 8 (2): 250–9. (2014). doi:10.1007/s12072-013-9500-x. PMID 26202506.
- ^ “Prognostic significance of NBS1 and Snail expression in esophageal squamous cell carcinoma”. Ann. Surg. Oncol. 19 Suppl 3: S549–57. (2012). doi:10.1245/s10434-011-2043-2. PMID 21881923.
- ^ “Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt”. J. Biol. Chem. 280 (37): 32505–11. (2005). doi:10.1074/jbc.M501449200. PMID 16036916.
- ^ “Increased NBS1 expression is a marker of aggressive head and neck cancer and overexpression of NBS1 contributes to transformation”. Clin. Cancer Res. 12 (2): 507–15. (2006). doi:10.1158/1078-0432.CCR-05-1231. PMID 16428493.
- ^ “Identification of increased NBS1 expression as a prognostic marker of squamous cell carcinoma of the oral cavity”. Cancer Sci. 101 (4): 1029–37. (2010). doi:10.1111/j.1349-7006.2009.01471.x. PMID 20175780.
- ^ Lou, Dianne I.; Kim, Eui Tae; Meyerson, Nicholas R.; Pancholi, Neha J.; Mohni, Kareem N.; Enard, David; Petrov, Dmitri A.; Weller, Sandra K. et al. (2016-08-10). “An Intrinsically Disordered Region of the DNA Repair Protein Nbs1 Is a Species-Specific Barrier to Herpes Simplex Virus 1 in Primates” (English). Cell Host & Microbe 20 (2): 178–188. doi:10.1016/j.chom.2016.07.003. ISSN 1931-3128. PMC 4982468. PMID 27512903 .
- ^ Balasubramanian, Nandakumar; Bai, Ping; Buchek, Gregory; Korza, George; Weller, Sandra K. (2010-12-15). “Physical Interaction between the Herpes Simplex Virus Type 1 Exonuclease, UL12, and the DNA Double-Strand Break-Sensing MRN Complex” (英語). Journal of Virology 84 (24): 12504–12514. doi:10.1128/JVI.01506-10. ISSN 0022-538X. PMC 3004347. PMID 20943970 .
- ^ a b c d “BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures”. Genes Dev. 14 (8): 927–39. (April 2000). doi:10.1101/gad.14.8.927. PMC 316544. PMID 10783165 .
- ^ “Substrate specificities and identification of putative substrates of ATM kinase family members”. J. Biol. Chem. 274 (53): 37538–43. (December 1999). doi:10.1074/jbc.274.53.37538. PMID 10608806.
- ^ “Redistribution of BRCA1 among four different protein complexes following replication blockage”. J. Biol. Chem. 276 (42): 38549–54. (October 2001). doi:10.1074/jbc.M105227200. PMID 11504724.
- ^ “Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response”. Science 285 (5428): 747–50. (July 1999). doi:10.1126/science.285.5428.747. PMID 10426999.
- ^ “NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain”. Curr. Biol. 12 (21): 1846–51. (October 2002). doi:10.1016/s0960-9822(02)01259-9. PMID 12419185.
- ^ a b “Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation”. J. Biol. Chem. 278 (24): 21944–51. (June 2003). doi:10.1074/jbc.M211689200. PMID 12679336.
- ^ a b “Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95”. J. Biol. Chem. 273 (34): 21447–50. (August 1998). doi:10.1074/jbc.273.34.21447. PMID 9705271.
- ^ “Forkhead-associated domain of yeast Xrs2, a homolog of human Nbs1, promotes nonhomologous end joining through interaction with a ligase IV partner protein, Lif1”. Genetics 179 (1): 213–25. (May 2008). doi:10.1534/genetics.107.079236. PMC 2390601. PMID 18458108 .
- ^ a b “Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization”. Mol. Cell. Biol. 21 (6): 2184–91. (March 2001). doi:10.1128/MCB.21.6.2184-2191.2001. PMC 86852. PMID 11238951 .
- ^ “Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres”. Nat. Genet. 25 (3): 347–52. (July 2000). doi:10.1038/77139. PMID 10888888.
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