Epigenetics and Familial Hypercholesterolemia: a methylation study on the three canonical genes

Autor: Zorzo RA, Suen VMM, Santos JE, null Silva-Jr, Suazo VK, Honorato ALSC, Santos RD, Jannes CE, A Pereira, Krieger JE, null Liberatore-Jr

Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein cholesterol (LDL-C) levels and a high risk of early coronary heart disease. Structural alterations in the LDLR, APOB, and PCSK9 genes were not found in 20–40% of pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::146e71a053e9c9f8bf00c6640f09e1ac
https://doi.org/10.21203/rs.3.rs-2268996/v1

LDLR gene's promoter region hypermethylation in patients with familial hypercholesterolemia.

Autor: Zorzo RA; Teaching Institute 'Saúde Com Evidência', Ribeirão Preto, Brazil. renatozorzo@alumni.usp.br.; Ribeirão Preto Medical School, University of São Paulo University, São Paulo, Brazil. renatozorzo@alumni.usp.br., Suen VMM; Ribeirão Preto Medical School, University of São Paulo University, São Paulo, Brazil., Santos JE; Ribeirão Preto Medical School, University of São Paulo University, São Paulo, Brazil., Silva-Jr WA; Ribeirão Preto Medical School, University of São Paulo University, São Paulo, Brazil., Suazo VK; Pediatrics Department, Pediatric Endocrinology, Ribeirão Preto Medical School, São Paulo University, São Paulo, Brazil., Honorato ALSC; Ribeirão Preto Medical School, University of São Paulo University, São Paulo, Brazil., Santos RD; Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil., Jannes CE; Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil., Pereira A; Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil., Krieger JE; Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil., Liberatore-Jr RDR; Ribeirão Preto Medical School, University of São Paulo University, São Paulo, Brazil.; Pediatrics Department, Pediatric Endocrinology, Ribeirão Preto Medical School, São Paulo University, São Paulo, Brazil.

Publikováno v: Scientific reports [Sci Rep] 2023 Jun 07; Vol. 13 (1), pp. 9241. Date of Electronic Publication: 2023 Jun 07.

High-throughput microRNA profile in adult and pediatric primary glioblastomas: the role of miR-10b-5p and miR-630 in the tumor aggressiveness.

Autor: Junior LGD; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil., Baroni M; Department of Genetics, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Lira RCP; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil.; Centro Universitário CESMAC, Maceió, AL, Brazil., Teixeira S; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil., Fedatto PF; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil., Silveira VS; Department of Genetics, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Suazo VK; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil., Veronez LC; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil., Panepucci RA; Hemocentro Foundation, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Antônio DSM; Department of Research and Development, Fleury Group, São Paulo, SP, Brazil., Yunes JA; Boldrini's Children Center, Campinas, SP, Brazil.; State University of Campinas, Campinas, SP, Brazil., Brandalise SR; Boldrini's Children Center, Campinas, SP, Brazil., Dos Santos Aguiar S; State University of Campinas, Campinas, SP, Brazil., Neder L; Department of Pathology, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., de Oliveira RS; Division of Neurosurgery, Department of Surgery, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Machado HR; Division of Neurosurgery, Department of Surgery, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Carlotti CG Jr; Division of Neurosurgery, Department of Surgery, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Tone LG; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil.; Department of Genetics, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirão Preto, SP, Brazil., Valera ET; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil., Scrideli CA; Department of Pediatrics, Ribeirao Preto Medical School, University of Sao Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirao Preto, 14049-900, Brazil. scrideli@fmrp.usp.br.

Publikováno v: Molecular biology reports [Mol Biol Rep] 2020 Sep; Vol. 47 (9), pp. 6949-6959. Date of Electronic Publication: 2020 Sep 04.

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas.

Autor: Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil. valeraet@gmail.com.; Department of Human Genetics, McGill University, Montreal, QC, Canada. valeraet@gmail.com., McConechy MK; Department of Human Genetics, McGill University, Montreal, QC, Canada., Gayden T; Department of Pediatrics, The Research Institute of the McGill University Health Center, McGill University, Montreal, QC, H4A 3J1, Canada., Rivera B; Department of Human Genetics, McGill University, Montreal, QC, Canada., Jones DTW; Pediatric Glioma Research Group, Hopp Children's Cancer Center, NCT Heidelberg (KiTZ) and German Cancer Research Center (DKFZ), Heidelberg, Germany., Wittmann A; Pediatric Glioma Research Group, Hopp Children's Cancer Center, NCT Heidelberg (KiTZ) and German Cancer Research Center (DKFZ), Heidelberg, Germany., Han H; Department of Human Genetics, McGill University, Montreal, QC, Canada., Bareke E; McGill University and Genome Quebec Innovation Center, Montreal, QC, Canada., Nikbakht H; McGill University and Genome Quebec Innovation Center, Montreal, QC, Canada., Mikael L; Department of Pediatrics, The Research Institute of the McGill University Health Center, McGill University, Montreal, QC, H4A 3J1, Canada., Queiroz RG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil., Suazo VK; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil., Phi JH; Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Republic of Korea., Kim SK; Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Republic of Korea., Park SH; Department of Pathology, Seoul National University Children's Hospital, Seoul, Republic of Korea., Fukaya R; Department of Neurosurgery, Shizuoka City Shimizu Hospital, Shizuoka, Japan.; Department of Neurosurgery, Fuji Hospital, Aichi, Japan., Yum MS; Division of Pediatric Neurology, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Ko TS; Division of Pediatric Neurology, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., de Oliveira RS; Division of Pediatric Neurosurgery, Department of Surgery and Anatomy, University Hospital, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Machado HR; Division of Pediatric Neurosurgery, Department of Surgery and Anatomy, University Hospital, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil., Brassesco MS; Department of Biology, Faculty of Philosophy, Sciences and Letters at Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil., do Santos AC; Department of Image Science and Medical Physics Center, Internal Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil., Simão GN; Department of Image Science and Medical Physics Center, Internal Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil., Ramalho LNZ; Department of Pathology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Neder L; Department of Pathology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil., Scrideli CA; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil., Tone LG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil., Majewski J; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University and Genome Quebec Innovation Center, Montreal, QC, Canada., Jabado N; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Department of Pediatrics, The Research Institute of the McGill University Health Center, McGill University, Montreal, QC, H4A 3J1, Canada.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2018 Oct; Vol. 136 (4), pp. 657-660. Date of Electronic Publication: 2018 Aug 24.

Erratum to: The DNA methyltransferase inhibitor zebularine exerts antitumor effects and reveals BATF2 as a poor prognostic marker for childhood medulloblastoma.

Autor: Andrade AF; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo (USP), Avenida Bandeirantes 3900, 14048-900, Ribeirão Preto, SP, Brazil. augustofaria@usp.br.; Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Avenida Bandeirantes 3900, 14048-900, Ribeirão Preto, SP, Brazil. augustofaria@usp.br., Borges KS; Department of Pediatrics - Ribeirão Preto Medical School, University of São Paulo (USP), São Paulo, Brazil., Suazo VK; Department of Pediatrics - Ribeirão Preto Medical School, University of São Paulo (USP), São Paulo, Brazil., Geron L; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo (USP), Avenida Bandeirantes 3900, 14048-900, Ribeirão Preto, SP, Brazil., Corrêa CA; Department of Pediatrics - Ribeirão Preto Medical School, University of São Paulo (USP), São Paulo, Brazil., Castro-Gamero AM; Department of Pediatrics - Ribeirão Preto Medical School, University of São Paulo (USP), São Paulo, Brazil., de Vasconcelos EJ; Department of Biochemistry, Chemistry Institute, USP, São Paulo, Brazil., de Oliveira RS; Department of Surgery and Anatomy, Ribeirão Preto Medical School, USP, São Paulo, Brazil., Neder L; Department of Pathology, Ribeirão Preto Medical School, USP, São Paulo, Brazil., Yunes JA; Centro Infantil Boldrini & FCM/Unicamp, Campinas, Brazil., Aguiar SD; Centro Infantil Boldrini & FCM/Unicamp, Campinas, Brazil., Scrideli CA; Department of Pediatrics - Ribeirão Preto Medical School, University of São Paulo (USP), São Paulo, Brazil., Tone LG; Department of Genetics, Ribeirão Preto Medical School, University of São Paulo (USP), Avenida Bandeirantes 3900, 14048-900, Ribeirão Preto, SP, Brazil.; Department of Pediatrics - Ribeirão Preto Medical School, University of São Paulo (USP), São Paulo, Brazil.

Publikováno v: Investigational new drugs [Invest New Drugs] 2017 Feb; Vol. 35 (1), pp. 124.