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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. Pharmacogenet Genomics. 2024 Jun 1;34(4):91-104. doi: 10.1097/FPC.0000000000000524. Epub 2024 Feb 7. Pharmacogenet Genomics. 2024. PMID: 38682317
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
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
Correction to "Rational Design, Synthesis, and Mechanism of (3S,4R)-3-Amino-4-(difluoromethyl)cyclopent-1-ene-1-carboxylic Acid: Employing a Second-Deprotonation Strategy for Selectivity of Human Ornithine Aminotransferase over GABA Aminotransferase".
Zhu W, Butrin A, Melani RD, Doubleday PF, Ferreira GM, Tavares MT, Habeeb Mohammad TS, Beaupre BA, Kelleher NL, Moran GR, Liu D, Silverman RB. Zhu W, et al. J Am Chem Soc. 2023 May 3;145(17):9895-9896. doi: 10.1021/jacs.3c03364. Epub 2023 Apr 19. J Am Chem Soc. 2023. PMID: 37075548 No abstract available.
41 results