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The Role of PALB2 in the DNA Damage Response and Cancer Predisposition.
Nepomuceno TC, De Gregoriis G, de Oliveira FMB, Suarez-Kurtz G, Monteiro AN, Carvalho MA. Nepomuceno TC, et al. Among authors: monteiro an. Int J Mol Sci. 2017 Aug 31;18(9):1886. doi: 10.3390/ijms18091886. Int J Mol Sci. 2017. PMID: 28858227 Free PMC article. Review.
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA; kConFab; Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD. Tischkowitz M, et al. Among authors: monteiro an. Eur J Hum Genet. 2008 Jul;16(7):820-32. doi: 10.1038/ejhg.2008.13. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285836 Free PMC article.
Characterization of LGALS3 (galectin-3) as a player in DNA damage response.
Carvalho RS, Fernandes VC, Nepomuceno TC, Rodrigues DC, Woods NT, Suarez-Kurtz G, Chammas R, Monteiro AN, Carvalho MA. Carvalho RS, et al. Among authors: monteiro an. Cancer Biol Ther. 2014 Jul;15(7):840-50. doi: 10.4161/cbt.28873. Epub 2014 Apr 22. Cancer Biol Ther. 2014. PMID: 24755837 Free PMC article.
BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN; Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium. Jhuraney A, et al. Among authors: monteiro an. J Med Genet. 2015 Apr;52(4):224-30. doi: 10.1136/jmedgenet-2014-102766. Epub 2015 Feb 2. J Med Genet. 2015. PMID: 25643705 Free PMC article.
Enhancer scanning to locate regulatory regions in genomic loci.
Buckley M, Gjyshi A, Mendoza-Fandiño G, Baskin R, Carvalho RS, Carvalho MA, Woods NT, Monteiro AN. Buckley M, et al. Among authors: monteiro an. Nat Protoc. 2016 Jan;11(1):46-60. doi: 10.1038/nprot.2015.136. Epub 2015 Dec 10. Nat Protoc. 2016. PMID: 26658467 Free PMC article.
BRCA1 recruitment to damaged DNA sites is dependent on CDK9.
Nepomuceno TC, Fernandes VC, Gomes TT, Carvalho RS, Suarez-Kurtz G, Monteiro AN, Carvalho MA. Nepomuceno TC, et al. Among authors: monteiro an. Cell Cycle. 2017 Apr 3;16(7):665-672. doi: 10.1080/15384101.2017.1295177. Epub 2017 Feb 22. Cell Cycle. 2017. PMID: 28278048 Free PMC article.
DNA repair genes PAXIP1 and TP53BP1 expression is associated with breast cancer prognosis.
De Gregoriis G, Ramos JA, Fernandes PV, Vignal GM, Brianese RC, Carraro DM, Monteiro AN, Struchiner CJ, Suarez-Kurtz G, Vianna-Jorge R, de Carvalho MA. De Gregoriis G, et al. Among authors: monteiro an. Cancer Biol Ther. 2017 Jun 3;18(6):439-449. doi: 10.1080/15384047.2017.1323590. Epub 2017 May 5. Cancer Biol Ther. 2017. PMID: 28475402 Free PMC article.
A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Rodrigue A, Margaillan G, Torres Gomes T, Coulombe Y, Montalban G, da Costa E Silva Carvalho S, Milano L, Ducy M, De-Gregoriis G, Dellaire G, Araújo da Silva W Jr, Monteiro AN, Carvalho MA, Simard J, Masson JY. Rodrigue A, et al. Among authors: monteiro an. Nucleic Acids Res. 2019 Nov 18;47(20):10662-10677. doi: 10.1093/nar/gkz780. Nucleic Acids Res. 2019. PMID: 31586400 Free PMC article.
192 results