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Year Number of Results
2015 1
2016 4
2017 7
2018 8
2019 5
2020 6
2021 8
2022 4
2023 10
2024 4

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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. Pharmacogenet Genomics. 2024 Jun 1;34(4):91-104. doi: 10.1097/FPC.0000000000000524. Epub 2024 Feb 7. Pharmacogenet Genomics. 2024. PMID: 38682317
Efficient and reproducible generation of human iPSC-derived cardiomyocytes using a stirred bioreactor.
Prondzynski M, Bortolin RH, Berkson P, Trembley MA, Shani K, Sweat ME, Mayourian J, Cordoves AM, Anyanwu NJ, Tharani Y, Cotton J, Milosh JB, Walker D, Zhang Y, Liu F, Liu X, Parker KK, Bezzerides VJ, Pu WT. Prondzynski M, et al. Among authors: bortolin rh. bioRxiv [Preprint]. 2024 Feb 28:2024.02.24.581789. doi: 10.1101/2024.02.24.581789. bioRxiv. 2024. PMID: 38464269 Free PMC article. Preprint.
Tbx5 maintains atrial identity in post-natal cardiomyocytes by regulating an atrial-specific enhancer network.
Sweat ME, Cao Y, Zhang X, Burnicka-Turek O, Perez-Cervantes C, Arulsamy K, Lu F, Keating EM, Akerberg BN, Ma Q, Wakimoto H, Gorham JM, Hill LD, Kyoung Song M, Trembley MA, Wang P, Gianeselli M, Prondzynski M, Bortolin RH, Bezzerides VJ, Chen K, Seidman JG, Seidman CE, Moskowitz IP, Pu WT. Sweat ME, et al. Among authors: bortolin rh. Nat Cardiovasc Res. 2023 Oct;2(10):881-898. doi: 10.1038/s44161-023-00334-7. Epub 2023 Oct 12. Nat Cardiovasc Res. 2023. PMID: 38344303 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. 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
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
Influence of polymorphisms in IRS1, IRS2, MC3R, and MC4R on metabolic and inflammatory status and food intake in Brazilian adults: An exploratory pilot study.
Fajardo CM, Cerda A, Bortolin RH, de Oliveira R, Stefani TIM, Dos Santos MA, Braga AA, Dorea EL, Bernik MMS, Bastos GM, Sampaio MF, Damasceno NRT, Verlengia R, de Oliveira MRM, Hirata MH, Hirata RDC. Fajardo CM, et al. Nutr Res. 2023 Nov;119:21-32. doi: 10.1016/j.nutres.2023.08.008. Epub 2023 Aug 24. Nutr Res. 2023. PMID: 37716291
The let-7b-5p, miR-326, and miR-125a-3p are associated with left ventricular systolic dysfunction in post-myocardial infarction.
Dantas-Komatsu RCS, Cruz MS, Freire PP, Diniz RVZ, Bortolin RH, Cabral-Marques O, Souza KBDS, Hirata MH, Hirata RDC, Reis BZ, Jurisica I, Silbiger VN, Luchessi AD. Dantas-Komatsu RCS, et al. Front Cardiovasc Med. 2023 May 12;10:1151855. doi: 10.3389/fcvm.2023.1151855. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37252118 Free PMC article.
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
50 results