0000000001308050
AUTHOR
Jorge Oliveira
showing 7 related works from this author
MicroRNA-30a-5pme: a novel diagnostic and prognostic biomarker for clear cell renal cell carcinoma in tissue and urine samples
2020
Abstract Background The rising incidence of renal cell carcinomas (RCC) constitutes a significant challenge owing to risk of overtreatment. Because aberrant microRNA (miR) promoter methylation contributes to cancer development, we investigated whether altered miR-30a-5p expression associates with DNA promoter methylation and evaluated the usefulness as clear cell RCC (ccRCC) diagnostic and prognostic markers. Methods Genome-wide methylome and RNA sequencing data from a set of ccRCC and normal tissue samples from The Cancer Genome Atlas (TCGA) database were integrated to identify candidate CpG loci involved in cancer onset. MiR-30a-5p expression and promoter methylation were quantitatively a…
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity…
Additional file 4 of MicroRNA-30a-5pme: a novel diagnostic and prognostic biomarker for clear cell renal cell carcinoma in tissue and urine samples
2020
Additional file 4 Supplementary Table 1. Univariable and multivariable analysis of clinicopathological and epigenetic variables in TCGA Cohort (OS and RFS). Supplementary Table 2. List of primers’ sequence for qMSP analysis. Supplementary Table 3. qMSP primers’ design within the methylated gene’s sequence. Supplementary Table 4. Cox univariable and multivariable analysis of clinicopathological and epigenetic variables in Cohort #1 (DFS). Supplementary Table 5. Cox univariable analysis of clinicopathological and epigenetic variables in Cohort #1 (DSS). Supplementary Table 6. Cox univariable and multivariable analysis of clinicopathological and epigenetic variables in Cohort #2 (MFS). Supplem…
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1
2021
Contains fulltext : 232759.pdf (Publisher’s version ) (Closed access) In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to…
Additional file 2 of MicroRNA-30a-5pme: a novel diagnostic and prognostic biomarker for clear cell renal cell carcinoma in tissue and urine samples
2020
Additional file 2 Supplementary Figure S2. Prognostic value of stage and nuclear grade in Cohort #1. (A) Disease-free and (B) disease-specific Kaplan-Meier survival curves based on clinicopathological stage and nuclear grade (Log-rank test).
Additional file 1 of MicroRNA-30a-5pme: a novel diagnostic and prognostic biomarker for clear cell renal cell carcinoma in tissue and urine samples
2022
Additional file 1 Supplementary Figure S1. Expression of miR-30a-5p according to clinicopathological variables in Cohort #1. Scatter plots of miR-30a-5p expression levels according to metastasis presentation, recurrence and Führman grade (Mann–Whitney U test).
Additional file 3 of MicroRNA-30a-5pme: a novel diagnostic and prognostic biomarker for clear cell renal cell carcinoma in tissue and urine samples
2020
Additional file 3 Supplementary Figure S3. MiR-30a-5pme levels and prognostic value of stage and nuclear grade in Cohort #2 (A) Scatter plots of miR-30a-5pme levels according to pathological stage (Mann–Whitney U test); (B) Disease-specific and (C) Metastasis-free Kaplan-Meier survival curves based on clinicopathological stage and nuclear grade (Log-rank test).