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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: barbosa tkaa. Gene. 2023 Jul 30;875:147501. doi: 10.1016/j.gene.2023.147501. Epub 2023 May 20. Gene. 2023. PMID: 37217153
LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients.
Barbosa TKA, Hirata RDC, Ferreira GM, Borges JB, Oliveira VF, Gorjão R, Marçal ERDS, Gonçalves RM, Faludi AA, Freitas RCC, Dagli-Hernandez C, Bortolin RH, Bastos GM, Pithon-Curi TC, Nader HB, Hirata MH. Barbosa TKA, et al. Gene. 2023 Feb 15;853:147084. doi: 10.1016/j.gene.2022.147084. Epub 2022 Dec 1. Gene. 2023. PMID: 36464169 Free 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: barbosa tka. Gene. 2023 Jan 30;851:146979. doi: 10.1016/j.gene.2022.146979. Epub 2022 Oct 17. Gene. 2023. PMID: 36261084
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: barbosa tkaa. 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