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Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
de Oliveira JF, do Prado PFV, da Costa SS, Sforça ML, Canateli C, Ranzani AT, Maschietto M, de Oliveira PSL, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG. de Oliveira JF, et al. Among authors: krepischi acv. Nat Chem Biol. 2019 Jan;15(1):62-70. doi: 10.1038/s41589-018-0177-2. Epub 2018 Dec 10. Nat Chem Biol. 2019. PMID: 30531907 Free PMC article.
Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.
Aguiar TFM, Rivas MP, Costa S, Maschietto M, Rodrigues T, Sobral de Barros J, Barbosa AC, Valieris R, Fernandes GR, Bertola DR, Cypriano M, Caminada de Toledo SR, Major A, Tojal I, Apezzato MLP, Carraro DM, Rosenberg C, Lima da Costa CM, Cunha IW, Sarabia SF, Terrada DL, Krepischi ACV. Aguiar TFM, et al. Among authors: krepischi acv. Front Oncol. 2020 May 5;10:556. doi: 10.3389/fonc.2020.00556. eCollection 2020. Front Oncol. 2020. PMID: 32432034 Free PMC article.
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV. Pires SF, et al. Among authors: krepischi acv. Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376. Epub 2020 Aug 3. Pediatr Blood Cancer. 2020. PMID: 32748512 No abstract available.
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation.
Rivas MP, Aguiar TFM, Maschietto M, Lemes RB, Caires-Júnior LC, Goulart E, Telles-Silva KA, Novak E, Cristofani LM, Odone V, Cypriano M, de Toledo SRC, Carraro DM, Escobar MQ, Lee H, Johnston M, da Costa CML, da Cunha IW, Tasic L, Pearson PL, Rosenberg C, Timchenko N, Krepischi ACV. Rivas MP, et al. Among authors: krepischi acv. Tumour Biol. 2020 Dec;42(12):1010428320977124. doi: 10.1177/1010428320977124. Tumour Biol. 2020. PMID: 33256542 Free article.
DNA methylation as a key epigenetic player for hepatoblastoma characterization.
Rivas M, Aguiar T, Fernandes G, Lemes R, Caires-Júnior L, Goulart E, Telles-Silva K, Maschietto M, Cypriano M, de Toledo S, Carraro D, da Cunha I, da Costa C, Rosenberg C, Krepischi A. Rivas M, et al. Clin Res Hepatol Gastroenterol. 2021 May;45(3):101684. doi: 10.1016/j.clinre.2021.101684. Epub 2021 Apr 20. Clin Res Hepatol Gastroenterol. 2021. PMID: 33852955
Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways.
Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Werneck da Cunha I, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Barros JS, et al. Among authors: krepischi acv. Front Oncol. 2021 Dec 8;11:741526. doi: 10.3389/fonc.2021.741526. eCollection 2021. Front Oncol. 2021. PMID: 34956867 Free PMC article.
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T, Teixeira A, Scliar MO, Sobral de Barros J, Lemes RB, Souza S, Tolezano G, Santos F, Tojal I, Cypriano M, Caminada de Toledo SR, Valadares E, Borges Pinto R, Pinto Artigalas OA, Caetano de Aguirre Neto J, Novak E, Cristofani LM, Miura Sugayama SM, Odone V, Cunha IW, Lima da Costa CM, Rosenberg C, Krepischi A. Aguiar T, et al. Front Genet. 2022 Apr 12;13:858396. doi: 10.3389/fgene.2022.858396. eCollection 2022. Front Genet. 2022. PMID: 35495172 Free PMC article.
105 results