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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. Among authors: martins dj. 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.
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. Among authors: martins dj. 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.
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.
47 results