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Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report.
BMC Med Genomics. 2023 Aug 12;16(1):186. doi: 10.1186/s12920-023-01622-8.
BMC Med Genomics. 2023.
PMID: 37573316
Free PMC article.
XPA deficiency affects the ubiquitin-proteasome system function.
de Sousa Leal AM, de Azevedo Medeiros LB, Muñoz-Cadavid CO, de Paula Oliveira R, de Souza Timóteo AR, de Oliveira AHS, Luis Fonseca Faustino A, da Silva VL, de Souza SJ, Braz Petta Lajus T, de Melo Campos JTA, Agnez-Lima LF.
de Sousa Leal AM, et al. Among authors: de souza timoteo ar.
DNA Repair (Amst). 2020 Oct;94:102937. doi: 10.1016/j.dnarep.2020.102937. Epub 2020 Jul 16.
DNA Repair (Amst). 2020.
PMID: 32693352
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XPC deficiency is related to APE1 and OGG1 expression and function.
de Melo JT, de Souza Timoteo AR, Lajus TB, Brandão JA, de Souza-Pinto NC, Menck CF, Campalans A, Radicella JP, Vessoni AT, Muotri AR, Agnez-Lima LF.
de Melo JT, et al. Among authors: de souza timoteo ar.
Mutat Res. 2016 Feb-Mar;784-785:25-33. doi: 10.1016/j.mrfmmm.2016.01.004. Epub 2016 Jan 16.
Mutat Res. 2016.
PMID: 26811994
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A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
de Souza Timoteo AR, Gonçalves AÉMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP, de Aquino MAA, Agnez-Lima LF, Lajus TBP.
de Souza Timoteo AR, et al.
Breast Cancer Res Treat. 2018 Dec;172(3):637-646. doi: 10.1007/s10549-018-4938-0. Epub 2018 Aug 29.
Breast Cancer Res Treat. 2018.
PMID: 30159786
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Changes in redox and endoplasmic reticulum homeostasis are related to congenital generalized lipodystrophy type 2.
Craveiro Sarmento AS, Gomes Lima J, de Souza Timoteo AR, Galvão Ururahy MA, Antunes de Araújo A, Carvalho Vasconcelos R, Cândido Dantas VK, Fassarella Agnez-Lima L, Araújo de Melo Campos JT.
Craveiro Sarmento AS, et al. Among authors: de souza timoteo ar.
Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Apr;1865(4):158610. doi: 10.1016/j.bbalip.2020.158610. Epub 2020 Jan 7.
Biochim Biophys Acta Mol Cell Biol Lipids. 2020.
PMID: 31917334
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