A5101989328- Genetic Neurodegenerative Diseases
- Trypanosoma species research and implications
- BRCA gene mutations in cancer
- Cancer-related Molecular Pathways
- Mitochondrial Function and Pathology
- Hedgehog Signaling Pathway Studies
- DNA Repair Mechanisms
- Ocular Oncology and Treatments
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Research on Leishmaniasis Studies
- Epigenetics and DNA Methylation
- Congenital limb and hand anomalies
- Renal and related cancers
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Cancer Cells and Metastasis
- CRISPR and Genetic Engineering
- Insect symbiosis and bacterial influences
- Cancer Immunotherapy and Biomarkers
- Spondyloarthritis Studies and Treatments
- RNA modifications and cancer
- Helminth infection and control
- Congenital Anomalies and Fetal Surgery
Fundação Oswaldo Cruz
2015-2024
Universidade Federal do Estado do Rio de Janeiro
2014-2023
National Institute on Population Medical Genetics
2007-2023
Hospital Universitário Gaffrée e Guinle
2019-2022
International Olive Council
2019-2021
D’Or Institute for Research and Education
2021
Universidade Federal Fluminense
2019
Fundação do Câncer
2019
Universidade Federal do Rio de Janeiro
2012-2017
University of Miami
2015-2017
Patients with upper gastrointestinal ulceration may be treated misoprostol, but it is not recommended for pregnant women because stimulate uterine contractions and cause vaginal bleeding miscarriage. Recent data from Brazil, where misoprostol used orally vaginally as an abortifacient, have suggested a relation between the use of by in unsuccessful attempt to terminate pregnancy Möbius' syndrome (congenital facial paralysis) their infants.
Abstract Misoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal Brazil. An uncertain number these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug first trimester gestation without success. The presented with limb defects 4 them diagnosis Möbius sequence was made. © 1993 Wiley‐Liss, Inc.
Due to patterns of migration, selection, and population expansion, founder effects are common among humans. In Southern Brazil, a recurrent TP53 mutation, p.R337H, is detected in families with cancer predisposition. We have used whole locus resequencing high-density single nucleotide polymorphism (SNP) genotyping refine haplotype definitions. Haplotyping 12 unrelated p.R337H carriers using set 29 tag SNPs, revealed that all subjects carried the same haplotype, presence mutation on this was...
Holoprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of developing central nervous system. Among heterogeneous causes HPE, mutations Sonic Hedgehog (SHH) gene have been shown to result an autosomal dominant form disorder. Here we describe a total five different processing domain encoded by exon 3 SHH familial sporadic HPE. This first instance humans where responsible for autocatalytic cleavage cholesterol modification N-terminal...
Werner mesomelic syndrome (WMS) is an autosomal dominant disorder with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to preaxial polydactyly (PPD) hands and feet and/or five-fingered hand absence thumbs. We show that point mutations a specific nucleotide within sonic hedgehog (SHH) regulatory region (ZRS) cause WMS. In previously unpublished WMS family, we identified causative G>A transition at position 404 ZRS, six affected family members second...
The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation clinical management strategies, Brazil, there limited access these services, mainly due costs/availability genetic testing. Aiming at identification recurrent that could be included a low-cost mutation panel, used as first screening approach, we compiled testing reports 649 probands with pathogenic/likely pathogenic variants referred 28 public private health care centers distributed across 11 Brazilian...
Retinoblastoma (RB), a childhood neoplasia of the retinoblasts, can occur unilaterally or bilaterally, with one multiple foci per eye. RB is associated somatic loss-of-function both alleles tumor suppressor gene RB1. Hereditary forms emerge due to germline mutations in RB1 alleles. has long been prototypic ''model'' cancer ever since Knudson's ''two-hit'' hypothesis. However, simple two-hit model for challenged by an increasing number studies documenting additional hits that contribute...
Approximately 10% of all cancers are considered hereditary and primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most genes molecularly heterogeneous, displaying hundreds different disease-causing sequence alterations, founder have been identified certain populations. In some Latin American countries, associated with increased risk breast other described. This is particularly interesting considering that these populations highly admixed genetic...
About 5-10% of breast and ovarian carcinomas are hereditary most these result from germline mutations in the BRCA1 BRCA2 genes. In women Ashkenazi Jewish ascendance, up to 30% may be attributable genes, where 3 founder mutations, c.68_69del (185delAG) c.5266dup (5382insC) c.5946del (6174delT) BRCA2, commonly encountered. It has been suggested by some authors that screening for should undertaken all Brazilian with cancer. Thus, goal this study was determine prevalence three identified...
Journal Article Sylvatic Triatomines (Hemiptera: Reduviidae) in Bolivia: Trends Toward Domesticity and Possible Infection with Trypanosoma cruzi (Kinetoplastida: Trypanosomatidae) Get access Francois Noireau, Noireau 1Institut Français de Recherche Scientifique pour le Développement en Coopération, Casilla 9214, La Paz, Bolivia Search for other works by this author on: Oxford Academic PubMed Google Scholar Marie-France Bosseno, Bosseno 2UMR CNRS/ORSTOM, BP 5045, 34032 Montpellier Cedex,...
Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of is well known, as measured during study duration. We aimed describe progression rate ataxia, by Scale for Assessment and Rating Ataxia (SARA), overall picture, Neurological Examination Score Ataxias (NESSCA), not duration but also in a disease model. Comparisons between these models might allow us explore whether linear SCA2; look potential...
Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which associated with the Hereditary Breast Ovarian Cancer (HBOC) syndrome, most frequently affected Recent studies confirm that gene rearrangements, especially BRCA1, responsible for a significant proportion certain populations. In this study we determined prevalence BRCA rearrangements 145 unrelated Brazilian individuals at risk HBOC syndrome who had...
Parasites belonging to Leishmania braziliensis, donovani, mexicana complexes and Trypanosoma cruzi (clones 20 39) were searched in blood, lesions strains collected from 28 patients with active cutaneous leishmaniasis one patient visceral leishmaniasis. PCR-hybridization specific probes of (L. L. donovani mexicana) T. clones was applied the different DNA samples. Over 29 patients, 8 (27.6%) presented a mixed infection complex species, 17 (58.6%) Leishmania-T. cruzi, 4 (13.8%) multi infection....
The aim of this study was to identify the relative frequency Huntington's disease ( HD ) and ‐like (HDL) disorders HDL1 , HDL2 spinocerebellar ataxia type 2 SCA2 ), SCA17 dentatorubral‐pallidoluysian degeneration DRPLA benign hereditary chorea, neuroferritinopathy chorea‐acanthocytosis (CHAC), in a series Brazilian families. Patients were recruited seven centers if they or their relatives presented at least besides other findings. Molecular studies HTT ATXN2 TBP ATN1 JPH3 FTL NKX2 ‐1/ TITF1...
Abstract Background Retinoblastoma (RB) accounts for 3% of all childhood malignancies, with different incidences around the world. This malignancy results from loss‐of‐function both RB1 alleles although other genes, like MDM2 and MDM4 , have been proposed to be involved in tumor development. Procedure We genotyped rs2279744T>G rs937283A>G rs4252668T>C rs116197192G>A 104 unrelated RB patients controls. Sixty‐month survival Kaplan–Meier curves χ 2 ‐tests were performed estimating...
The role of Triatoma sordida in the domestic transmission Trypanosoma cruzi was assessed 7 rural localities Velasco Province, Department Santa Cruz, Bolivia. Tri. sordida, only triatomine species identified these localities, found inside 58·0% houses but not large numbers (3·1 bugs per infested house on average). A total 220 faecal samples from domiciliary examined microscopically and by polymerase chain reaction for presence trypanosomes: 21·4% were infected. Analysis blood meals showed...
Retinoblastoma (RB) is a malignant neoplasia that occurs mostly in children under 5 years. Recently, CDKN1A gene has been shown to be up-regulated context of loss function pRb. This encodes the p21 protein, which bona fide effector p53. We hypothesized whether two putatively functional single nucleotide polymorphisms (SNPs) (rs1801270 C>A and rs1059234 C>T) may influence risk and/or survival RB patients. genotyped both SNPs 141 patients 120 unrelated healthy individuals. Statistical analyses...
Breast cancer is the most prevalent among women worldwide. Therapeutic strategies to control tumors and metastasis are still challenging. Three-dimensional (3D) spheroid-type systems more accurately replicate features of in vivo, working as a better platform for performing therapeutic response analysis. This work aimed characterize epithelial-mesenchymal transition doxorubicin (dox) mammary tumor spheroid (MTS) model. We evaluated treatment effect on MCF-7 diameter, cell viability, death,...