A5079710467- Hedgehog Signaling Pathway Studies
- Ocular Disorders and Treatments
- Developmental Biology and Gene Regulation
- Pharmacogenetics and Drug Metabolism
- Cleft Lip and Palate Research
- Cancer-related Molecular Pathways
- Drug-Induced Hepatotoxicity and Protection
- Genetics and Physical Performance
- Muscle metabolism and nutrition
- Craniofacial Disorders and Treatments
- Drug Transport and Resistance Mechanisms
- Veterinary Oncology Research
- Congenital limb and hand anomalies
- Genomics and Chromatin Dynamics
- Virus-based gene therapy research
- T-cell and Retrovirus Studies
- Cancer therapeutics and mechanisms
- Head and Neck Surgical Oncology
- Genetics and Neurodevelopmental Disorders
- Cancer, Hypoxia, and Metabolism
- HIV/AIDS drug development and treatment
- Cancer Research and Treatments
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- Glutathione Transferases and Polymorphisms
Universidade Federal do Estado do Rio de Janeiro
2014-2022
Universidade Federal Fluminense
2017-2018
Fundação Oswaldo Cruz
2011-2018
Universidade Federal Rural do Rio de Janeiro
2018
Universidade Federal do Rio de Janeiro
2005-2017
National Human Genome Research Institute
2006-2010
National Institutes of Health
2006-2010
Instituto Nacional do Câncer
2007-2009
Cancer Genetics (United States)
2008
Universidade Federal da Integração Latino-Americana
2007
The secreted protein sonic hedgehog (Shh) plays an integral role in forming the ventral midline of vertebrate central nervous system (CNS). In absence Shh function, development is perturbed resulting holoprosencephaly (HPE), a structural malformation brain, as well neuronal patterning and path finding defects along length anteroposterior neuraxis. Central to understanding neural tube how transcription regulated CNS. To address this issue, we devised enhancer trap assay systematically screen...
<h3>Background:</h3> Holoprosencephaly (HPE) is the most common structural malformation of human forebrain. There are several important HPE mutational target genes, including transcription factor <i>SIX3</i>, which encodes an early regulator Shh, Wnt, Bmp and Nodal signalling expressed in developing forebrain eyes all vertebrates. <h3>Objective:</h3> To characterise genetic clinical findings patients with <i>SIX3</i> mutations. <h3>Methods:</h3> Patients their family members were tested for...
Mutations within either the SHH gene or its related pathway components are most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with essential functions of during forebrain development patterning. Here we summarize nature types deleterious sequence alterations among over one hundred distinct mutations (64 novel mutations) compare these to a dozen disease-related Hedgehog family members IHH DHH. This combined structural...
Holoprosencephaly (HPE) is the most common developmental anomaly of human forebrain; however, genetics this heterogeneous and etiologically complex malformation incompletely understood. Heterozygous mutations in SIX3, a transcription factor gene expressed anterior forebrain eyes during early vertebrate development, have been frequently detected HPE cases. However, only few investigated with limited functional studies that would confirm role pathogenesis. Here, we report development set...
Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested SMMCI alone, some midline defects, be considered different entity from HPE (OMIM: 147250). Families SMMCI, without cases, are difficult to counsel for risk in future generations because same defects described "SMMCI syndrome" can also spectrum.We screened five cases mutations...
What is known and Objective: Anti-tuberculosis drugs (ATD), although highly effective, often cause liver injury. Glutathione S-transferases (GST) play a crucial protective role in the detoxifying mechanisms of drugs. Several studies have investigated genetic null variants GSTM1 GSTT1 as possible risk factors for ATD-induced injury; however, those findings are inconsistent. We genotypes Brazilian patients with tuberculosis (TB), adjusting other predictors Methods: This was prospective cohort...
Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common malformation. The etiology of HPE complex and multifactorial. To date, at least 12 HPE-associated genes have been identified, including TGIF (transforming growth factor beta-induced factor), located on chromosome 18p11.3. encodes a transcriptional repressor retinoid responses involved TGF-β signaling regulation, Nodal signaling. mutations are reported...
Here, we report six Brazilian patients with holoprosencephaly caused by SIX3 mutations. Missense mutations were more common than frameshift Comparison of missense versus was essentially unremarkable. Our cases suggest that result in a severe phenotype other gene for holoprosencephaly. One patient had double mutation, which has not been reported previously. In our mutations, three transmitted the paternal side, two maternal and one de novo event. Mutations normal parents involvement their...
Holoprosencephaly (HPE) is a spectrum of brain and facial malformations primarily reflecting genetic factors, such as chromosomal abnormalities gene mutations. Here, we present clinical molecular analysis 195 probands with HPE or microforms; approximately 72% the patients were derived from Latin American Collaborative Study Congenital Malformations (ECLAMC), 82% newborns. Alobar was predominant defect in almost all categories, except for without oral cleft median lateral clefts....
The protein p53 is considered to be one of the most important tumor suppressor factors. Despite this importance, a potential association between TP53 messenger (m)RNA levels and aggressiveness has not been well defined in animal cancer. We assessed correlated gene expression 40 canine mammary carcinomas with histologic grade, size, aggressiveness. tumors were subjected analysis mRNA determined by RT-rtPCR. Statistical revealed no correlation ( r = 0.00) or growth 0.06). Histologic grades...
The canine BRCA2 is a tumor supressor gene which encodes the protein, involved in DNA repair through interaction with RAD51 recombinase. This process mediated by eigth BRC repeats that are encoded exon 11. Two variants corresponding to human mutations BRC3 repeat have been reported repeat. In addition, other also described Considering importance of polymorphisms breast cancer development, this study aimed investigate frequency 11 48 blood and tissue samples from bitches mammary tumors (CMT),...
Distinct N-acetyltransferase 2 (NAT2) slow acetylators genotypes have been associated with a higher risk to develop anti-tuberculosis drug-induced hepatotoxicity (DIH). However, studies not pointed the relevance of different acetylation phenotypes presented by homozygotes and compound heterozygotes on clinical basis.This study aimed investigate association between NAT2 developing DIH in Brazilian patients undergoing tuberculosis treatment, focusing discrimination acetylators.The frequency...
The ZIC genes comprise a family of transcriptional factors associated with neural tube defects (NTDs) in mice and holoprosencephaly humans. An allelic variant ZIC2, CAC repeat within the first exon, was reported association an increased risk non-syndromic NTDs patients Hispanic ethnic background. We investigated whether this 10-residue histidine tract polymorphism ZIC2 gene (c.718_720dupCAC) sample 138 their parents from Latin American Collaborative Study Congenital Malformations (ECLAMC)...
CYP3A4 is involved in tuberculosis (TB) and human immunodeficiency virus (HIV) drug metabolism. Transcriptional activation by rifampicin involves the gene 5'-upstream region. Consequently, variation may interfere with transcription enzymatic activity even response. However, genetic polymorphisms distribution of allelic frequencies individuals from Rio de Janeiro remain unknown. The aim this study was to conduct research into sequencing region Brazilian patients without HIV. This follow-up...
Polymorphisms in MSTN have previously been associated with equine performance. Therefore, the aim of this study was to identify variants intron 1 16 Brazilian Sport Horses selected for competition eventing and their possible effects selection on Among nine identified, eight had already reported previous studies or genomic databases, although they showed differences frequencies when compared other horse breeds. Moreover, a new mutation identified two horses, both heterozygous form....
TP53 and PGAM1 genes play a key role in glycolysis which is an essential metabolic pathway of cancer cells for obtaining energy. The purpose this work was to evaluate mRNA expressions canine mammary carcinomas (CMC) correlate them with animal data tumour histological features. None the nine samples analysed revealed DNA sequence variations. RNA from 21 CMC were using one-step reverse transcription-PCR kit its platform system. Most had low levels (71.5%) normal expression (95.2%). Our results...