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BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: carvalho ma. HGG Adv. 2024 Apr 25;5(3):100296. doi: 10.1016/j.xhgg.2024.100296. Online ahead of print. HGG Adv. 2024. PMID: 38669137 Free PMC article. No abstract available.
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC, Foo TK, Richardson ME, Ranola JMO, Weyandt J, Varga MJ, Alarcon A, Gutierrez D, von Wachenfeldt A, Eriksson D, Kim R, Armel S, Iversen E, Couch FJ, Borg Å, Xia B, Carvalho MA, Monteiro ANA. Nepomuceno TC, et al. Among authors: carvalho ma. HGG Adv. 2023 Oct 12;4(4):100240. doi: 10.1016/j.xhgg.2023.100240. Epub 2023 Sep 16. HGG Adv. 2023. PMID: 37718511 Free PMC article.
Functional assays for BRCA1 and BRCA2.
Carvalho MA, Couch FJ, Monteiro AN. Carvalho MA, et al. Int J Biochem Cell Biol. 2007;39(2):298-310. doi: 10.1016/j.biocel.2006.08.002. Epub 2006 Aug 18. Int J Biochem Cell Biol. 2007. PMID: 16978908 Free PMC article. Review.
Correction: functional analysis of BRCA1 M1628V variant.
Carvalho MA, Monteiro AN. Carvalho MA, et al. J Med Genet. 2007 May;44(5):e78. doi: 10.1136/jmg.2006.045344. Epub 2007 Feb 20. J Med Genet. 2007. PMID: 17311832 Free PMC article. No abstract available.
Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
Lyra PCM Jr, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS Jr, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA. Lyra PCM Jr, et al. Among authors: carvalho ma. Genet Med. 2021 Feb;23(2):306-315. doi: 10.1038/s41436-020-00991-0. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087888 Free PMC article.
PALB2 Variants: Protein Domains and Cancer Susceptibility.
Nepomuceno TC, Carvalho MA, Rodrigue A, Simard J, Masson JY, Monteiro ANA. Nepomuceno TC, et al. Among authors: carvalho ma. Trends Cancer. 2021 Mar;7(3):188-197. doi: 10.1016/j.trecan.2020.10.002. Epub 2020 Nov 1. Trends Cancer. 2021. PMID: 33139182 Review.
Functional characterization of 84 PALB2 variants of uncertain significance.
Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ. Wiltshire T, et al. Among authors: carvalho ma. Genet Med. 2020 Mar;22(3):622-632. doi: 10.1038/s41436-019-0682-z. Epub 2019 Oct 21. Genet Med. 2020. PMID: 31636395 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: carvalho rs, carvalho ma. 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.
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA. Fernandes VC, et al. Among authors: carvalho ma. J Biol Chem. 2019 Apr 12;294(15):5980-5992. doi: 10.1074/jbc.RA118.005274. Epub 2019 Feb 14. J Biol Chem. 2019. PMID: 30765603 Free PMC article.
374 results