A5045793010- Cancer, Lipids, and Metabolism
- MicroRNA in disease regulation
- Cancer-related molecular mechanisms research
- Genetic Syndromes and Imprinting
- Genetic factors in colorectal cancer
- Metabolism and Genetic Disorders
- Cancer, Hypoxia, and Metabolism
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Metabolomics and Mass Spectrometry Studies
- BRCA gene mutations in cancer
- Diet and metabolism studies
- Biochemical and Molecular Research
- Hearing, Cochlea, Tinnitus, Genetics
- Circular RNAs in diseases
- Ferroptosis and cancer prognosis
- Microbial Metabolic Engineering and Bioproduction
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Hematopoietic Stem Cell Transplantation
- DNA Repair Mechanisms
- Colorectal Cancer Treatments and Studies
- Immune cells in cancer
- Genomic variations and chromosomal abnormalities
- Colorectal Cancer Screening and Detection
Clinics Hospital of Ribeirão Preto
2005-2021
Universidade de São Paulo
2010-2021
Universidade de Ribeirão Preto
2003-2021
National Council for Scientific and Technological Development
2015-2019
Fundação de Amparo à Pesquisa do Estado de São Paulo
2007-2019
Shanghai Cell Therapy Research Institute
2015
MicroRNAs (miRNAs) are a class of small endogenous RNAs that play important regulatory roles by targeting mRNAs for cleavage or translational repression. miRNAs act in diverse biological processes including development, cell growth, apoptosis, and hematopoiesis, suggesting their association with cancer. We determined the miRNA expression profile chronic acute lymphocytic leukemias (CLL ALL) using TaqMan MicroRNA Assays Human Panel (Applied Biosystems). Pooled leukemia samples were compared...
Abstract Dysregulation of miRNA expression is associated with multiple diseases, including cancers, in which small RNAs can have either oncogenic or tumor suppressive functions. Here we investigated the potential function miR-450a, one most significantly downregulated miRNAs ovarian cancer. RNA-seq analysis cancer cell line A2780 revealed that overexpression miR-450a suppressed genes involved epithelial-to-mesenchymal transition (EMT). Overexpression reduced migration and invasion increased...
Mitochondria are central key players in cell metabolism, and mitochondrial DNA (mtDNA) instability has been linked to metabolic changes that contribute tumorigenesis increased expression of pro-tumorigenic genes. Here, we use melanoma lines metastatic tumors evaluate the effect mtDNA alterations packaging factor, TFAM, on energetic metabolism nuclear gene changes. We report a positive correlation between copy number, glucose consumption, ATP production lines. Gene analysis reveals...
Abstract Background The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) occurs in families with a history of breast/ovarian cancer, presenting an autosomal dominant inheritance pattern. BRCA1 BRCA2 are high penetrance genes associated increased risk up to 20-fold for breast ovarian cancer. However, only 20–30% HBOC cases present pathogenic variants those genes, other DNA repair have emerged as increasing the HBOC. In Brazil, ATM, ATR, CHEK2, MLH1, MSH2, MSH6, POLQ, PTEN, TP53 been...
LINC00629 and MIR503HG are long intergenic non-coding RNAs (lincRNAs) mapped on chromosome X (Xq26), a region enriched for genes associated with human reproduction. Genes highly expressed in normal reproductive tissues cancers (CT genes) well known as potential tumor biomarkers. This study aimed to characterize the structure, expression, function regulation mechanism of lincRNAs. According our data, expression was almost exclusive placenta other tissues. Further analysis, using cancer cell...
Mitochondrial dysfunction is regarded as a hallmark of cancer progression. In the current study, we evaluated mitochondrial genome instability and copy number in colorectal using Next Generation Sequencing approach qPCR, respectively. The results revealed higher levels heteroplasmy depletion relative mtDNA adenocarcinoma. Adenocarcinoma samples also presented an increased mutations nuclear genes encoding proteins which functions are related with mitochondria fusion, fission localization....
Abstract Melanoma is the deadliest form of skin cancer, and little known about impact deregulated expression long noncoding RNAs (lncRNAs) in progression this cancer. In study, we explored RNA-Seq data to search for lncRNAs associated with melanoma progression. We found distinct lncRNA gene patterns across melanocytes, primary metastatic cells. Also, observed upregulation ZEB1-AS1 (ZEB1 antisense RNA 1) cell lines. Data analysis from The Cancer Genome Atlas (TCGA) confirmed higher its...
Abstract Background Colorectal cancer (CRC) is one of the most common cancers worldwide; it fourth leading cause death in world and third Brazil. Mutations APC, DCC, KRAS TP53 genes have been associated with progression sporadic CRC, occurring at defined pathological stages tumor consequently modulating several corresponding signaling pathways. Therefore, identification gene signatures that occur each stage during CRC critical can present an impact on diagnosis prognosis patient. In this...
Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency galactose-1-phosphate uridyltransferase enzyme. It transmitted as autosomal recessive disease and typically characterized neonatal intolerance, with complications ranging from jaundice liver failure to late complications, such motor reproductive dysfunctions. also heterogeneous a molecular standpoint, hundreds different mutations described in GALT gene, some them specific certain populations,...
Butyrylcholinesterase (BChE) is a plasma enzyme that catalyzes the hydrolysis of choline esters, including muscle-relaxant succinylcholine and mivacurium. Patients who present sustained neuromuscular blockade after using usually carry BChE variants with reduced activity or an acquired deficiency. We report here molecular basis BCHE gene underlying slow catabolism in patient underwent endoscopic nasal surgery. measured extracted genomic DNA order to study promoter region all exons patient,...
Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD a mitochondrial complex encoded BCKDHA, BCKDHB, DBT, and DLD genes. MSUD predominantly Variants in DBT genes encoding E1α, E1β, E2 subunits complex, respectively. The aim this study was to characterize genetic basis identifying point variants cohort Brazilian patients describe their phenotypic heterogeneity....
Background: Immunohistochemical prognostic significance of the homologous recombination-related proteins RAD51, ATM, BRCA1, and BRCA2 is known in gastric adenocarcinoma, one deadliest cancers. Objective design: This retrospective cohort study aimed to evaluate mRNA expression promoter methylation some genes this neoplasm. Methods: We evaluated ATR, tumor non-tumor frozen samples from gastrectomy specimens by RT-qPCR MS-HRM, correlating our results with previous immunohistochemistry data...
Despite being a healthy tissue, the constituent cells of placenta, share similar characteristics with tumor cells, such as increased cell growth, migration, and invasion. However, while these processes are stochastic uncontrolled in cancer placenta they precisely controlled. Since miRNAs have been reported to regulate genes that control molecular mechanisms necessary for development both human cancer, we addressed highly expressed could be involved tumorigenesis. Here, assessed miRNA profile...
Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations GJB2 and GJB6 genes, pathogenic variants SLC26A4 gene have been reported as a cause of hereditary HL due to its role physiology inner ear. In this research we wanted investigate prevalence Brazilian patients with nonsyndromic prelingual HL. We applied high-resolution melting technique screen 88 DNA samples from unrelated deaf individuals that were previously screened for GJB2, MT-RNR1...
The goal of this study was to screen point mutations and deletions in APC MUTYH genes patients suspected familial adenomatous polyposis (FAP) a Brazilian cohort.We used high-resolution melting, Sanger direct sequencing multiplex ligation-dependent probe association (MLPA) assays identify mutations, large genomic variations within the coding regions genes.We identified 19 causative 40 from 20 different families. Four novel were gene two gene. We also found high intra- inter-familial diversity...
Mutations have been found in the UBE3A gene (E6-AP ubiquitin protein ligase gene) many Angelman syndrome (AS) patients with no deletion, uniparental disomy, and imprinting defect. mutations are more frequent familial than sporadic described so far seem to cause similar phenotypes affected cases. Here we describe two first cousins who inherited same frameshift mutation (duplication of GAGG exon 10) from their asymptomatic mothers but present discordant phenotypes. The proband shows typical AS...
Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and caused defect the gene encoding receptor (LDLR). The clinical diagnosis based on personal familial history, physical examination findings, measures of cholesterol concentrations. LDLR cell-surface glycoprotein that controls level plasma triglyceride LDLR-mediated endocytosis. Here we sequenced entire gene-coding region to screen for mutations 32 patients diagnosed with...