Laboratório de Estudos em Genética Humana

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Publicações – Laboratório de Estudos em Genética Humana

Publicações

  • CHANG-WOLF, JENNIFER M. ; KINZY, TYLER G. ; DRIESSEN, SJOERD J. ; CRUZ, LAUREN A. ; IYENGAR, SUDHA K. ; PEACHEY, NEAL S. ; AUNG, TIN ; KHOR, CHIEA CHUEN ; WILLIAMS, SUSAN E. ; RAMSAY, MICHELE ; OLAWOYE, OLUSOLA ; ASHAYE, ADEYINKA ; KLAVER, CAROLINE C. W. ; HAUSER, MICHAEL A. ; THIADENS, ALBERTA A. H. J. ; COOKE BAILEY, JESSICA N. ; BONNEMAIJER, PIETER W. M. ; SANYWIA, ANNA J. ; COOK, COLIN ; MELO, Mônica Barbosa de ; et.al . Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent. JAMA Ophthalmology, v. 143, p. 7, 2025.
  • DE CASTRO, JÚLIA NICOLIELLO PEREIRA ; DA SILVA COSTA, SUELI MATILDE ; CAMARGO, ANA CAROLINA LIMA ; ITO, MIRTA TOMIE ; DE SOUZA, BRUNO BATISTA ; DE HAIDAR E BERTOZZO, VICTOR ; RODRIGUES, THIAGO ADALTON ROSA ; LANARO, CAROLINA ; DE ALBUQUERQUE, DULCINÉIA MARTINS ; SAEZ, ROBERTA CASAGRANDE ; SAAD, SARA TERESINHA OLALLA ; OZELO, MARGARETH CASTRO ; CENDES, FERNANDO ; COSTA, Fernando Ferreira ; DE MELO, MÔNICA BARBOSA . Comparative transcriptomic analysis of circulating endothelial cells in sickle cell stroke. ANNALS OF HEMATOLOGY, v. 103, p. 1167-1179, 2024.
  • DA SILVA COSTA, SUELI MATILDE ; ITO, MIRTA TOMIE ; DA CRUZ, PEDRO RODRIGUES SOUSA ; DE SOUZA, BRUNO BATISTA ; RIOS, VINICIUS MANDOLESI ; BERTOZZO, VICTOR DE HAIDAR E ; CAMARGO, ANA CAROLINA LIMA ; VITURINO, MARINA GONÇALVES MONTEIRO ; LANARO, CAROLINA ; DE ALBUQUERQUE, DULCINÉIA MARTINS ; DO CANTO, AMANDA MORATO ; SAAD, SARA TERESINHA OLALLA ; OSPINA-PRIETO, STEPHANIE ; OZELO, MARGARETH CASTRO ; COSTA, Fernando Ferreira ; DE MELO, MÔNICA BARBOSA . The molecular mechanism responsible for HbSC retinopathy may depend on the action of the angiogenesis-related genes ROBO1 and SLC38A5. EXPERIMENTAL BIOLOGY AND MEDICINE (MAYWOOD. ONLINE), v. 249, p. 1-15, 2024.
  • BERTOZZO, VICTOR DE HAIDAR E ; DA SILVA COSTA, SUELI MATILDE ; ITO, MIRTA TOMIE ; CRUZ, PEDRO RODRIGUES SOUSA DA ; SOUZA, BRUNO BATISTA ; RIOS, VINICIUS MANDOLESI ; VITURINO, MARINA GONÇALVES MONTEIRO ; CASTRO, JÚLIA NICOLIELLO PEREIRA DE ; RODRIGUES, THIAGO ADALTON ROSA ; LANARO, CAROLINA ; ALBUQUERQUE, DULCINÉIA MARTINS DE ; SAEZ, ROBERTA CASAGRANDE ; OLALLA SAAD, SARA TERESINHA ; OZELO, MARGARETH CASTRO ; COSTA, Fernando Ferreira ; MELO, Mônica Barbosa de . Comparative transcriptome analysis of endothelial progenitor cells of HbSS patients with and without proliferative retinopathy. EXPERIMENTAL BIOLOGY AND MEDICINE, v. 1, p. 153537022311579, 2023.
  • RODRIGUES, THIAGO ADALTON ROSA ; DE SOUZA, BRUNO BATISTA ; BERTOZZO, VICTOR DE HAIDAR E ; DE CASTRO, JÚLIA NICOLIELLO PEREIRA ; CAMARGO, ANA CAROLINA LIMA ; COSTA, Fernando Ferreira ; SCHIMITI, Rui Barroso ; COSTA, Vital Paulino ; DE VASCONCELLOS, JOSÉ PAULO CABRAL ; DE MELO, MÔNICA BARBOSA . Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort. OPHTHALMIC GENETICS, v. 44, p. 246-252, 2023.
  • DE GUIMARÃES, JULIANA ALBANO ; HOUNPKE, BIDOSSESSI WILFRIED ; DUARTE, BRUNA ; BOSO, ANA LUIZA MYLLA ; VITURINO, MARINA GONÇALVES MONTEIRO ; DE CARVALHO BAPTISTA, LETÍCIA ; DE MELO, MÔNICA BARBOSA ; ALVES, MONICA . Transcriptomics and network analysis highlight potential pathways in the pathogenesis of pterygium. Scientific Reports, v. 12, p. 286, 2022.
  • ARAKI, M. V. R. ; SILVA, Y. C. O. ; RODRIGUES, T. A. R. ; BAJANO, F. F. ; SOUZA, B.B. ; COSTA, F.F. ; COSTA, V. P. ; MELO, M.B. ; VASCONCELLOS, J.P.C. . Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population. MOLECULAR VISION, v. 28, p. 1, 2022.
  • RIM, PRISCILA H. H. ; DE VASCONCELLOS, JOSÉ PAULO C. ; DE MELO, MÔNICA B. ; MEDINA, FLAVIO M. C. ; SACCONI, DANIELA P. D. ; LANA, TAMIRES P. ; HIRATA, FABIO E. ; MAGNA, LUIS A. ; MARQUES-DE-FARIA, ANTONIA P. . Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients. PLoS One, v. 17, p. e0268795, 2022.
  • DA CRUZ PRS, ANANINA G, SECOLIN R, DA-SILVA-LOPES VL, LIMA CSP, DE FRANÇA PHC, DONATTI A, LOURENÇO GJ, DE ARAUJO TK, SIMIONI M, LOPES-CENDES I, COSTA FF, DE MELO MB. Demographic history differences between Hispanics and Brazilians imprint haplotype features. G3 (Bethesda). 2022 Jul 6;12(7):jkac111. doi: 10.1093/g3journal/jkac111. 
  • VITURINO MG, NETO JM, BAJANO FF, COSTA SM, ROQUE AB, BORGES GF, ANANINA G, RIM PH, MEDINA FM, COSTA FF, VASCONCELLOS JP, MELO MB. Evaluation of APOE polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population. Exp Biol Med (Maywood). 2021 May;246(10):1148-1155. doi: 10.1177/1535370220985466 
  • ITO MT, DA SILVA COSTA SM, BAPTISTA LC, CARVALHO-SIQUEIRA GQ, ALBUQUERQUE DM, RIOS VM, OSPINA-PRIETO S, SAEZ R, VIEIRA KP, CENDES F, OZELO MC, SAAD STO, COSTA FF, MELO MB. Angiogenesis-related genes in endothelial progenitor cells may be involved in sickle cell stroke. J Am Heart Assoc. 2020;9(3):e014143. doi: 10.1161/JAHA.119.014143. 
  • BAPTISTA LC, COSTA ML, SURITA FG, ROCHA CS, LOPES-CENDES I, SOUZA BB, COSTA FF, MELO MB. Placental transcriptome profile of women with sickle cell disease reveals differentially expressed genes involved in migration, trophoblast differentiation and inflammation. Blood Cells Mol Dis. 2020 Sep;84:102458. doi: 10.1016/j.bcmd.2020.102458. 
  • HAUSER MA, ALLINGHAM, RR, AUNG T, VAN DER HEIDE CJ, ROTTER JI, WANG SH, … MELO MB, … KHOR CC.APBB2 is a significant risk locus for primary open angle glaucoma in individuals of African ancestry. JAMA. 2019;322(17):1682-1691. doi: 10.1001/jama.2019.16161 
  • CRUZ PRS, ANANINA G, GIL-DA-SILVA-LOPES VS, SIMIONI M, MENAA F, BEZERRA MAC, DOMINGOS IF, ARAÚJO AS, PELLEGRINO R, HAKONARSON H, COSTA FF, MELO MB. Genetic comparison of sickle cell anaemia cohorts from Brazil and United States reveals high levels of divergence. Sci Rep. 2019;9(1):10896. doi: 10.1038/s41598-019-47313-2. 
  • CARVALHO-SIQUEIRA GQ, ANANINA G, SOUZA BB, BORGES MG, ITO MT, SILVA-COSTA SM, DOMINGOS IF, FALCÃO DA, LOPES-CENDES I, BEZERRA MAC, ARAÚJO AS, LUCENA-ARAÚJO AR, GONÇALVES MS, SAAD STO, COSTA FF, MELO MB. Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients. Exp Biol Med. (Maywood) 2019; 244(11):932-39. doi: 10.1177/1535370219849592. 
  • OLIVEIRA MB, VASCONCELLOS JPC, ANANINA G, COSTA VP, MELO MB. Association between IL1A and IL1B polymorphisms and primary open angle glaucoma in a Brazilian population. Exp Biol Med. (Maywood) 2018;243(13):1083-91. doi: 10.1177/1535370218809709.
  • MARQUES AM, ANANINA G, COSTA VP, VASCONCELLOS JPC, MELO MB. Estimating the age of the Cys433Arg mutation in the MYOC gene in patients with primary open angle glaucoma. PLoS One. 2018;13(11):e0207409. doi: 10.1371/journal.pone.0207409. 
  • KHOR CC, DO T, JIA H, NAKANO M, GEORGE R, ABU-AMERO K, DUVESH R, CHEN LJ, LI Z, NONGPIUR ME, PERERA SA, QIAO C, WONG H, SAKAI H, MELO MB et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature Genet. 2016; 48(5):556-62. doi: 10.1038/ng.3540.