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DNA polymerase eta protects human cells against DNA damage induced by the tumor chemotherapeutic temozolomide.
Latancia MT, Moreno NC, Leandro GS, Ribeiro VC, de Souza I, Vieira WKM, Bastos AU, Hoch NC, Rocha CRR, Menck CFM. Latancia MT, et al. Among authors: rocha crr. Mutat Res Genet Toxicol Environ Mutagen. 2022 Jun;878:503498. doi: 10.1016/j.mrgentox.2022.503498. Epub 2022 May 5. Mutat Res Genet Toxicol Environ Mutagen. 2022. PMID: 35649682 Free article.
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.
Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F. Pedroso JL, et al. Neurol Genet. 2015 Oct 22;1(4):e30. doi: 10.1212/NXG.0000000000000030. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066567 Free PMC article.
32 results