A5077870625- Bone fractures and treatments
- Craniofacial Disorders and Treatments
- Healthcare Regulation
- Bone and Dental Protein Studies
- Science and Education Research
- Retinal Diseases and Treatments
- Connective tissue disorders research
- Alzheimer's disease research and treatments
- Pancreatitis Pathology and Treatment
- Public Health in Brazil
- Nutrition, Genetics, and Disease
- Agricultural and Food Sciences
- Genomic variations and chromosomal abnormalities
- TGF-β signaling in diseases
- Palliative and Oncologic Care
- Genetics, Bioinformatics, and Biomedical Research
- Digestive system and related health
- Rural and Ethnic Education
- Healthcare during COVID-19 Pandemic
- Child Nutrition and Feeding Issues
- Blood Coagulation and Thrombosis Mechanisms
- Molecular Biology Techniques and Applications
- Congenital heart defects research
- Women's cancer prevention and management
- Genetic Neurodegenerative Diseases
Universidade Federal do Espírito Santo
2012-2025
Escola Superior de Ciências da Santa Casa de Misericórdia de Vitória
2006-2019
Universidade Federal de Minas Gerais
2013
Universidade de São Paulo
2006-2008
Universidade Brasil
2006
Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been worldwide effort in the identification of susceptibility genes for DM and its complications, 5-10-methylenetetrahydrofolate reductase (MTHFR) apolipoprotein-E (APOE) have considered good candidate to this condition. The objectives present study were determine if 677T MTHFR epsilon2/epsilon3/epsilon4 APOE alleles are risk factors severity diabetic retinopathy (DR). A total 248 individuals studied: 107...
The purpose of this study was to evaluate the effect single nucleotide polymorphism (SNP) -634G>C at 5' regulatory region vascular endothelial growth factor (VEGF) in risk proliferative diabetic retinopathy (PDR) Brazilian population European ancestry with type 2 diabetes.A case-control conducted 501 patients ancestry. Patients underwent a standardized clinical, ophthalmological, and laboratory evaluation. Of these, 167 had PDR (case patients), 334 were considered as control subjects...
Constitutive activation of NOTCH1-wild-type (NT1-WT) signaling is associated with poor outcomes in chronic lymphocytic leukemia (CLL), and NOTCH1 mutation (c.7541_7542delCT), which potentiates signaling, worsens the prognosis. However, specific mechanisms deregulation are still poorly understood. Accumulative evidence mentioned endoplasmic reticulum (ER) stress/unfolded protein response (UPR) as a key targetable pathway CLL. In this study, we investigated impact on CLL cell to ER stress...
Collagen XVIII can generate two fragments, NC11-728 containing a frizzled motif which possibly acts in Wnt signaling and Endostatin, is cleaved from the NC1 potent inhibitor of angiogenesis. have recently been associated with adipogenic differentiation obesity some animal models, but not humans. In present report, we shown that COL18A1 expression increases during human differentiation. We also tested if polymorphisms Frizzled (c.1136C>T; Thr379Met) Endostatin (c.4349G>A; Asp1437Asn)...
Approximately a hundred patients with terminal 10q deletions have been described. They present wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report girl boy craniosynostosis, developmental delay other congenital anomalies. Karyotyping molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We...
Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, therefore, the diagnosis of OI frequently difficult to obtain because great number that be related with this disease. Studies report most mutated patients help improve molecular strategies for In order characterize mutation profile Brazilian patients, we analyzed 30 unrelated through SSCP screening, NGS gene panel, and/or Sanger...
Type 2 diabetes mellitus (T2DM) and obesity are complex pandemic diseases in the 21st century. Worldwide, T allele rs7903146 TCF7L2 gene is recognized as a strong GWAS signal associated with T2DM. However, association between C still poorly explored needs to be replicated other populations. Thus, primary objectives of this study were evaluate T2DM according BMI status determine if variant related variation cohort elderly Brazilians.A total 1,023 participants from an census-based called SABE...
Excessive weight (overweight and obesity) is a common disorder involving genetic environmental factors, associated with cardiovascular diseases, type-2 diabetes, others. NOTCH1 critical for the maintenance of stem cells adult tissues, being reported as key player in metabolism adipogenesis animals. Thus, we test hypothesis that Single Nucleotide Polymorphisms (SNPs) are excessive weight. Participants from census-based cohort SABE (Saúde, Bem Estar e Envelhecimento—Health, Well-Being, Aging),...
Osteogenesis imperfecta (OI) is a Mendelian disease with genetic heterogeneity characterized by bone fragility, recurrent fractures, blue sclerae, and short stature, caused mostly mutations in COL1A1 or COL1A2 genes, which encode the pro-α1(I) pro-α2(I) chains of type I collagen, respectively. A Brazilian family that showed variable expression autosomal dominant OI was identified characterized. Scanning for carried out using SSCP DNA sequence analysis. The missense mutation c.3235G>A within...
PURPOSE: To analyze PCNA immunoexpression on the inferior pole of spleen splenectomized rats submitted to hyperbaric oxygenation (HBO). METHODS: Were analyzed fragments 20 male Wistar splenectomy with preservation pole. The were divided in two groups: group A (n=10) without HBO and B at 2, 5 atmospheres per 120 minutes, twice a day for three days once seven days. groups then subdivided four subgroups: A15 (n=5), euthanasia 15th day; A45 45th B15 (n=5) B45 day. Respectively these days, all...
Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A SNP c.10225C>G) in regulatory regions of 567 Brazilian individuals European (EA; N = 443) or African (AfA; 124) ancestry from rural (quilombo remnants; 439) urban (N 567) areas. detected a significant effect ethnicity on the distribution allelic frequencies both SNPs these populations (EA:...
PURPOSE: To assess the mutagenic potential of oxygen inhalation therapy (HBO), by means micronucleus test, performed in peripheral blood rats that underwent subtotal splenectomy with lower pole preservation (ESTPI), after HBO sessions or simulations. METHODS: Eighteen male Wistar rats, were distributed into three groups six animals: group 1 - submitted to ESTPI and sessions; 2 simulations; 3 cyclophosphamide administration. In 2, samples from animals' tails collected before surgery (T0)...