A5002981963- Cancer, Lipids, and Metabolism
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ferroptosis and cancer prognosis
- Chronic Lymphocytic Leukemia Research
- Genomic variations and chromosomal abnormalities
- Lymphoma Diagnosis and Treatment
- Drug-Induced Hepatotoxicity and Protection
- Metabolism and Genetic Disorders
- Genetic factors in colorectal cancer
- Bioinformatics and Genomic Networks
- Dermatological and Skeletal Disorders
- Liver Disease and Transplantation
- Renal function and acid-base balance
- Ubiquitin and proteasome pathways
- Digestive system and related health
- Endoplasmic Reticulum Stress and Disease
- Diabetes and associated disorders
- Connective tissue disorders research
- Diabetes Treatment and Management
- Pharmacological Effects and Toxicity Studies
- PI3K/AKT/mTOR signaling in cancer
- Skin and Cellular Biology Research
- Cancer-related Molecular Pathways
- Advanced Breast Cancer Therapies
Universidade Estadual de Campinas (UNICAMP)
2014-2025
Hospital Israelita Albert Einstein
2022-2025
Hospital de Sant Pau
2016-2018
Universitat Autònoma de Barcelona
2018
Hospital de Clínicas da Unicamp
2014
Moffitt Cancer Center
2011-2013
Duke University
2011
Zhejiang Cancer Hospital
2011
James A. Haley Veterans' Hospital
2011
Hangzhou Dianzi University
2011
Abstract Introduction Trastuzumab is effective in human epidermal growth factor receptor 2 (HER2)-over-expressing breast and gastric cancers. However, patients may develop resistance through downstream signaling via the phosphatidylinositol 3-kinase (PI3K)/AKT pathway. This phase 1 trial was conducted to determine safety tolerability of investigational AKT inhibitor MK-2206, prepare for future studies whether combination with trastuzumab could inhibit compensatory signaling. Methods Patients...
Despite initial sensitivity to chemotherapy, ovarian cancers (OVCA) often develop drug resistance, which limits patient survival. Using specimens and/or genomic data from 289 patients and a panel of cancer cell lines, we explored genome-wide expression changes that underlie the evolution OVCA chemoresistance characterized BCL2 antagonist death (BAD) apoptosis pathway as determinant chemosensitivity survival.Serial cisplatin treatments were performed in parallel with measurements changes....
Purpose: Secondary findings (SF) are pathogenic or likely variants in genes unrelated to the primary purpose of genetic testing. The American College Medical Genetics (ACMG) provides guidelines on which SF should be reported, involving 81 linked different conditions. With increasing use genome sequencing (GS), more frequently detected, presenting challenges for healthcare systems. Brazilian population is often underrepresented genomic studies, limits population-specific knowledge. Objective:...
Background Whole-Genome Sequencing (WGS) and Whole-Transcriptome (WTS) have emerged as transformative tools in the diagnosis of rare diseases with complex phenotypes. These technologies enable deep analysis genome RNA expression, uncovering structural, intronic, non-coding, mitochondrial variants that traditional methods might miss, thus facilitating understanding gene function regulation. Methods We enrolled 8966 patients suspected or hereditary cancer risk syndromes from 21 centers...
Genodermatoses are genetic conditions with clinical symptoms manifesting in the skin and adjoining tissues, individually rare but comprising a large heterogeneous group of disorders that represents 15% diseases. This article discusses results individuals genodermatoses from reference center for diseases studied through whole genome sequencing conducted by Brazilian Rare Genomes Project between 2021 2023. A retrospective case series data sex, age at first assessment hospital, family history,...
Objective: Severe hepatotoxicity caused by paracetamol is rare in neonates. We report a case of paracetamol-induced acute liver failure term neonate. Case description: A 26-day-old boy was admitted with intestinal bleeding, shock signs, slight enlargement, coagulopathy, metabolic acidosis (pH=7.21; bicarbonate: 7.1mEq/L), hypoglycemia (18mg/dL), increased serum aminotransferase activity (AST=4,039IU/L; ALT=1,087IU/L) and hyperbilirubinemia (total: 9.57mg/dL; direct: 6.18mg/dL) after...
Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which estimated to be low (1 per million). Nevertheless, in recent years we have found 27 affected individuals from 22 families Ceará State, a region Brazilian Northeast, giving local 3 million. This associated with high parental consanguinity, suggesting possible founder effect, prompted us perform molecular investigation these test this hypothesis.The CTSK gene was sequenced by Sanger method patients and their...
Abstract Background Classical homocystinuria ( HCU ) is a monogenic disease caused by the deficient activity of cystathionine β‐synthase (CβS). The objective this study was to identify CBS mutations in Brazilian patients with . Methods gDNA samples were obtained for 35 (30 families) biochemically confirmed diagnosis All exons and exon‐intron boundaries gene sequenced. Gene expression analysis qRT ‐ PCR performed six patients. Novel missense point expressed E. coli site‐directed mutagenesis....
Since most short‐rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group skeletal dysplasias was recently designated as ciliopathies major involvement. Beemer–Langer syndrome or type IV, first described in 1983, has, thus far, remained without a defined molecular basis. The recent classification referred phenotype an as‐yet unproven ciliopathy. IFT122 is gene that encodes protein responsible for retrograde transport along cilium;...
Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical social burden. We studied whole-genome sequencing data of cohort 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing to investigate pathogenic likely variants associated with nonsyndromic (NSHL). found relevant frequencies harboring these alterations: 222 heterozygotes (10.59%) for sequence variants, 54 (2.58%) copy-number (CNV), four homozygotes (0.19%) variants....
Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of vast amount genomic data it generates can be challenging. To address this, American College Medical Genetics and Genomics Association for Molecular Pathology have established guidelines standardized variant interpretation. In this manuscript, we present updated Hospital Israelita Albert Einstein Standards Constitutional Sequence Variants Classification, incorporating modifications...
22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between heterogeneity in 22q11.2DS and parental origin of deletion. The was determined for 61 individuals with by genotyping DNA microsatellite markers single-nucleotide polymorphisms (SNPs). Among individuals, 29 (47.5%) had a maternal deletion, 32 (52.5%) paternal origin. Comparison frequency main features deletions or showed no statistically difference. However,...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)