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14 results

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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. 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. Among authors: borges jb. Gene. 2024 Jan 10;890:147821. doi: 10.1016/j.gene.2023.147821. Epub 2023 Sep 20. Gene. 2024. PMID: 37739193
Lipidomic analysis identified potential predictive biomarkers of statin response in subjects with Familial hypercholesterolemia.
Cerda A, Bortolin RH, Yoshinaga MY, Freitas RCC, Dagli-Hernandez C, Borges JB, Oliveira VF, Gonçalves RM, Faludi AA, Bastos GM, Hirata RDC, Hirata MH. Cerda A, et al. Among authors: borges jb. Chem Phys Lipids. 2023 Nov;257:105348. doi: 10.1016/j.chemphyslip.2023.105348. Epub 2023 Oct 11. Chem Phys Lipids. 2023. PMID: 37827478
In silico analysis of upstream variants in Brazilian patients with Familial hypercholesterolemia.
de Araújo JNG, de Oliveira VF, Borges JB, Dagli-Hernandez C, Marçal EDSR, Freitas RCC, Bastos GM, Gonçalves RM, Faludi AA, Jannes CE, Pereira ADC, Hirata RDC, Hirata MH, Luchessi AD, Silbiger VN. de Araújo JNG, et al. Among authors: borges jb. Gene. 2023 Jan 15;849:146908. doi: 10.1016/j.gene.2022.146908. Epub 2022 Sep 24. Gene. 2023. PMID: 36167182 Free article.
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. 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: borges jb. Pharmaceutics. 2022 Apr 27;14(5):944. doi: 10.3390/pharmaceutics14050944. Pharmaceutics. 2022. PMID: 35631530 Free PMC article.
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. Among authors: borges jb. 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: borges jb. Gene. 2023 Jan 30;851:146979. doi: 10.1016/j.gene.2022.146979. Epub 2022 Oct 17. Gene. 2023. PMID: 36261084
Sandwich-like electrochemical aptasensing of heat shock protein 70 kDa (HSP70): Application in diagnosis/prognosis of coronavirus disease 2019 (COVID-19).
Negahdary M, Hirata MH, Sakata SK, Ciconelli RM, Bastos GM, Borges JB, Thurow HS, Junior ATS, Sampaio MF, Guimarães LB, Maeda BS, Angnes L. Negahdary M, et al. Among authors: borges jb. Anal Chim Acta. 2023 Feb 15;1242:340716. doi: 10.1016/j.aca.2022.340716. Epub 2022 Dec 8. Anal Chim Acta. 2023. PMID: 36657883 Free PMC article.
LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach.
de Freitas RCC, Bortolin RH, Borges JB, de Oliveira VF, Dagli-Hernandez C, Marçal EDSR, Bastos GM, Gonçalves RM, Faludi AA, Silbiger VN, Luchessi AD, Hirata RDC, Hirata MH. de Freitas RCC, et al. Among authors: borges jb. Mol Biol Rep. 2023 Nov;50(11):9165-9177. doi: 10.1007/s11033-023-08784-9. Epub 2023 Sep 30. Mol Biol Rep. 2023. PMID: 37776414
14 results