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Page 1
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB, Oliveira VF, Dagli-Hernandez C, Ferreira GM, Barbosa TKAA, da Silva Rodrigues Marçal E, Los B, Malaquias VB, Bortolin RH, Freitas RCC, Mori AA, Bastos GM, Gonçalves RM, Araújo DB, Zatz H, Bertolami A, Faludi AA, Bertolami MC, de Moraes Rego Souza AG, França JÍD, Thurow HS, Hirata TDC, Nakaya HTI, Jannes CE, da Costa Pereira A, Silbiger VN, Luchessi AD, Araújo JNG, Nakazone MA, Carmo TS, Souza DRS, Moriel P, Wang JYT, Naslavsky MS, Gorjão R, Pithon-Curi TC, Curi R, Fajardo CM, Wang HL, Garófalo AR, Cerda A, Sampaio MF, Hirata RDC, Hirata MH. Borges JB, et al. Among authors: mori aa. Gene. 2023 Jul 30;875:147501. doi: 10.1016/j.gene.2023.147501. Epub 2023 May 20. Gene. 2023. PMID: 37217153
Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs.
Mori AA, Malaquias VB, Bonjour K, Ferreira GM, Bortolin RH, Borges JB, Oliveira VF, Gonçalves RM, Faludi AA, Bastos GM, Thurow H, Sampaio MF, Ciconelli RM, Cury AN, Fajardo CM, Hirata RDC, Hirata MH. Mori AA, et al. Gene. 2024 Jan 10;890:147821. doi: 10.1016/j.gene.2023.147821. Epub 2023 Sep 20. Gene. 2024. PMID: 37739193
Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol.
Borges JB, Oliveira VF, Ferreira GM, Los B, Barbosa TKAA, Marçal EDSR, Dagli-Hernandez C, de Freitas RCC, Bortolin RH, Mori AA, Hirata TDC, Nakaya HTI, Bastos GM, Thurow HS, Gonçalves RM, Araujo DB, Zatz HP, Bertolami A, Faludi AA, Bertolami MC, Sousa AGMR, França JÍD, Jannes CE, Pereira ADC, Nakazone MA, Souza DRS, Carmo TS, Sampaio MF, Gorjão R, Pithon-Curi TC, Moriel P, Silbiger VN, Luchessi AD, de Araújo JNG, Naslavsky MS, Wang JYT, Kronenberger T, Cerda A, Lin-Wang HT, Garofalo AR, Fajardo CM, Hirata RDC, Hirata MH. Borges JB, et al. Among authors: mori aa. Res Social Adm Pharm. 2021 Jul;17(7):1347-1355. doi: 10.1016/j.sapharm.2020.10.007. Epub 2020 Oct 29. Res Social Adm Pharm. 2021. PMID: 33129683
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez C, Borges JB, Marçal EDSR, de Freitas RCC, Mori AA, Gonçalves RM, Faludi AA, de Oliveira VF, Ferreira GM, Bastos GM, Zhou Y, Lauschke VM, Cerda A, Hirata MH, Hirata RDC. Dagli-Hernandez C, et al. Among authors: mori aa. Pharmaceutics. 2022 Apr 27;14(5):944. doi: 10.3390/pharmaceutics14050944. Pharmaceutics. 2022. PMID: 35631530 Free PMC article.
Effects of PCSK9 missense variants on molecular conformation and biological activity in transfected HEK293FT cells.
Los B, Ferreira GM, Borges JB, Kronenberger T, Oliveira VF, Dagli-Hernandez C, Bortolin RH, Gonçalves RM, Faludi AA, Mori AA, Barbosa TKA, Freitas RCC, Jannes CE, Pereira ADC, Bastos GM, Poso A, Hirata RDC, Hirata MH. Los B, et al. Among authors: mori aa. Gene. 2023 Jan 30;851:146979. doi: 10.1016/j.gene.2022.146979. Epub 2022 Oct 17. Gene. 2023. PMID: 36261084
Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy.
Mori AA, Castro LR, Bortolin RH, Bastos GM, Oliveira VF, Ferreira GM, Hirata TDC, Fajardo CM, Sampaio MF, Moreira DAR, Pachón-Mateos JC, Correia EB, Sousa AGMR, Brión M, Carracedo A, Hirata RDC, Hirata MH. Mori AA, et al. Forensic Sci Int Genet. 2021 May;52:102478. doi: 10.1016/j.fsigen.2021.102478. Epub 2021 Feb 3. Forensic Sci Int Genet. 2021. PMID: 33588347
Late response to rosuvastatin and statin-related myalgia due to SLCO1B1, SLCO1B3, ABCB11, and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report.
Dagli-Hernandez C, de Freitas RCC, Marçal EDSR, Gonçalves RM, Faludi AA, Borges JB, Bastos GM, Los B, Mori AA, Bortolin RH, Ferreira GM, de Oliveira VF, Hirata TDC, Hirata MH, Hirata RDC. Dagli-Hernandez C, et al. Among authors: mori aa. Ann Transl Med. 2021 Jan;9(1):76. doi: 10.21037/atm-20-5540. Ann Transl Med. 2021. PMID: 33553369 Free PMC article.