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Page 1
Rothmund-Thomson syndrome, a disorder far from solved.
Martins DJ, Di Lazzaro Filho R, Bertola DR, Hoch NC. Martins DJ, et al. Front Aging. 2023 Nov 10;4:1296409. doi: 10.3389/fragi.2023.1296409. eCollection 2023. Front Aging. 2023. PMID: 38021400 Free PMC article. Review.
Filling gaps in translesion DNA synthesis in human cells.
Quinet A, Lerner LK, Martins DJ, Menck CFM. Quinet A, et al. Among authors: martins dj. Mutat Res Genet Toxicol Environ Mutagen. 2018 Dec;836(Pt B):127-142. doi: 10.1016/j.mrgentox.2018.02.004. Epub 2018 Feb 23. Mutat Res Genet Toxicol Environ Mutagen. 2018. PMID: 30442338 Review.
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.
Magrino J, Munford V, Martins DJ, Homma TK, Page B, Gaubitz C, Freire BL, Lerario AM, Vilar JB, Amorin A, Leão EKE, Kok F, Menck CF, Jorge AA, Kelch BA. Magrino J, et al. J Biol Chem. 2023 May;299(5):104656. doi: 10.1016/j.jbc.2023.104656. Epub 2023 Mar 27. J Biol Chem. 2023. PMID: 36990216 Free PMC article.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Melo US, et al. Genet Med. 2021 Apr;23(4):661-668. doi: 10.1038/s41436-020-01047-z. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420346 Free article.
DNA damage and oxidative stress in human cells infected by Trypanosoma cruzi.
Florentino PTV, Mendes D, Vitorino FNL, Martins DJ, Cunha JPC, Mortara RA, Menck CFM. Florentino PTV, et al. Among authors: martins dj. PLoS Pathog. 2021 Apr 7;17(4):e1009502. doi: 10.1371/journal.ppat.1009502. eCollection 2021 Apr. PLoS Pathog. 2021. PMID: 33826673 Free PMC article.
11 results