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21 results

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Page 1
Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability.
Dagli-Hernandez C, Ferreira GM, Freitas RCC, Borges JB, Oliveira VF, Gonçalves RM, Faludi AA, Marçal EDSR, Bastos GM, Bortolin RH, Hirata MH, Hirata RDC. Dagli-Hernandez C, et al. Among authors: freitas rcc. Pharmacogenet Genomics. 2024 Jun 1;34(4):91-104. doi: 10.1097/FPC.0000000000000524. Epub 2024 Feb 7. Pharmacogenet Genomics. 2024. PMID: 38682317
Large-Scale Proteomics Identifies Novel Biomarkers and Circulating Risk Factors for Aortic Stenosis.
Shelbaya K, Arthur V, Yang Y, Dorbala P, Buckley L, Claggett B, Skali H, Dufresne L, Yang TY, Engert JC, Thanassoulis G, Floyd J, Austin TR, Bortnick A, Kizer J, Freitas RCC, Singh SA, Aikawa E, Hoogeveen RC, Ballantyne C, Yu B, Coresh J, Blaha MJ, Matsushita K, Shah AM. Shelbaya K, et al. Among authors: freitas rcc. J Am Coll Cardiol. 2024 Feb 6;83(5):577-591. doi: 10.1016/j.jacc.2023.11.021. J Am Coll Cardiol. 2024. PMID: 38296402
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: freitas rcc. Chem Phys Lipids. 2023 Nov;257:105348. doi: 10.1016/j.chemphyslip.2023.105348. Epub 2023 Oct 11. Chem Phys Lipids. 2023. PMID: 37827478
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. 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
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: freitas rcc. 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. Among authors: freitas rcc. 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: freitas rcc. Gene. 2023 Jan 30;851:146979. doi: 10.1016/j.gene.2022.146979. Epub 2022 Oct 17. Gene. 2023. PMID: 36261084
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: freitas rcc. Gene. 2023 Jan 15;849:146908. doi: 10.1016/j.gene.2022.146908. Epub 2022 Sep 24. Gene. 2023. PMID: 36167182 Free article.
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: de freitas rcc. Pharmaceutics. 2022 Apr 27;14(5):944. doi: 10.3390/pharmaceutics14050944. Pharmaceutics. 2022. PMID: 35631530 Free PMC article.
21 results