Search Results - "Barbosa de Melo, Mônica"
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Transcriptomics and network analysis highlight potential pathways in the pathogenesis of pterygium
Published in Scientific reports (07-01-2022)“…Pterygium is a common ocular surface condition frequently associated with irritative symptoms. The precise identity of its critical triggers as well as the…”
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Demographic history differences between Hispanics and Brazilians imprint haplotype features
Published in G3 : genes - genomes - genetics (06-07-2022)“…Admixture is known to greatly impact the genetic landscape of a population and, while genetic variation underlying human phenotypes has been shown to differ…”
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The molecular mechanism responsible for HbSC retinopathy may depend on the action of the angiogenesis-related genes ROBO1 and SLC38A5
Published in Experimental biology and medicine (Maywood, N.J.) (24-07-2024)“…HbSC disease, a less severe form of sickle cell disease, affects the retina more frequently and patients have higher rates of proliferative retinopathy that…”
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Comparative transcriptome analysis of endothelial progenitor cells of HbSS patients with and without proliferative retinopathy
Published in Experimental biology and medicine (Maywood, N.J.) (01-04-2023)“…Among sickle cell anemia (SCA) complications, proliferative sickle cell retinopathy (PSCR) is one of the most important, being responsible for visual…”
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Mechanisms and biomarker candidates in pterygium development
Published in Arquivos brasileiros de oftalmologia (2019)“…Pterygium pathogenesis has been mainly asso ciated with UV light exposure; however, this association remains quite controversial. The complete mechanism of…”
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Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence
Published in Scientific reports (26-07-2019)“…Genetic analysis of admixed populations raises special concerns with regard to study design and data processing, particularly to avoid population…”
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Association of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population
Published in Ophthalmic genetics (01-01-2015)“…An association between LOC387715/ARMS2 (rs10490924) gene polymorphism and AMD has been reported. The aim of this study was to evaluate whether this…”
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Epigenetic analysis in placentas from sickle cell disease patients reveals a hypermethylation profile
Published in PloS one (21-09-2022)“…Pregnancy in Sickle Cell Disease (SCD) women is associated to increased risk of clinical and obstetrical complications. Placentas from SCD pregnancies can…”
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Placental transcriptome profile of women with sickle cell disease reveals differentially expressed genes involved in migration, trophoblast differentiation and inflammation
Published in Blood cells, molecules, & diseases (01-09-2020)“…Sickle cell disease (SCD) is a group of disorders whose common characteristic is the presence of hemoglobin (Hb) S in erythrocytes. The main consequence of…”
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Lack of Association Between Optineurin Gene Variants T34T, E50K, M98K, 691_692insAG and R545Q and Primary Open Angle Glaucoma in Brazilian Patients
Published in Ophthalmic genetics (01-01-2009)“…Purpose: To verify the frequencies of T34T, E50K, M98K, 691_692insAG, and R545Q variants in the optineurin (OPTN) gene in Brazilian subjects with primary…”
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Highlight article: Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients
Published in Experimental biology and medicine (Maywood, N.J.) (01-08-2019)“…Although sickle cell anemia results from homozygosity for a single mutation at position 7 of the β-globin chain, the clinical aspects of this condition are…”
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Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma
Published in PloS one (16-11-2018)“…The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not…”
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Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease
Published in Annals of hematology (01-10-2016)“…Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology,…”
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Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil
Published in PloS one (15-05-2015)“…Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits…”
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Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil
Published in Ophthalmic genetics (01-04-2018)“…Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG),…”
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Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
Published in Molecular vision (17-04-2009)“…Congenital cataracts are one of the most treatable causes of visual impairment and blindness during infancy. Approximately 50% of all congenital cataract cases…”
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Keeping an eye on myocilin: a complex molecule associated with primary open-angle glaucoma susceptibility
Published in Molecules (27-06-2011)“…MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some…”
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Structural Assessment of PITX2, FOXC1, CYP1B1, and GJA1 Genes in Patients with Axenfeld-Rieger Syndrome with Developmental Glaucoma
Published in Investigative ophthalmology & visual science (01-05-2006)“…Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and…”
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Comparative transcriptomic analysis of circulating endothelial cells in sickle cell stroke
Published in Annals of hematology (01-04-2024)“…Ischemic stroke (IS) is one of the most impairing complications of sickle cell anemia (SCA), responsible for 20% of mortality in patients. Rheological…”
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Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population
Published in Molecular vision (2022)“…Glaucoma is the world's leading cause of irreversible blindness, with primary open-angle glaucoma (POAG) being the most prevalent subtype. In recent years,…”
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