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A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
TLDR
The TCOF1 gene's core promoter was determined and four new single nucleotide polymorphisms (SNPs) were identified, one of which (-346C>T), was proved to be functional, as it decreased the promoter activity by 38%. Expand
Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
TLDR
This is the first study to report decreased expression levels of TCOF1 in TCS adult human cells, and it is still unknown if this finding is associated to any phenotype in adulthood, but it will be important to verify if TCS patients have an impairment in adult stem cell properties, as this can reduce the efficiency of plastic surgery results during rehabilitation of these patients. Expand
TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature
TLDR
An online database of TCOF1 mutations is developed in which all the reported mutations are renamed according to standard recommendations and in reference to the genomic and novel cDNA reference sequences ( www.usp.br/TCOF1_database). Expand
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
TLDR
A structured association study with the SNPs rs642961 and rs590223 located at 5′ and 3′ of the IRF6 gene and not in strong linkage disequilibrium (LD), in patients from five different Brazilian locations found any correlation between expression levels and genotypes of the two loci, and it is possible that these SNPs have a functional role in some specific period of embryogenesis. Expand
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity
TLDR
A new multigeneration family with 11 affected individuals (F1), in whom intra-familial clinical variability is described, and facial asymmetry was highly prevalent among the patients reported here, suggesting that there are at least two loci responsible for this phenotype. Expand
Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil.
TLDR
A positive association of rs987525 in the Brazilian population for the first time is presented, and it is likely that the European contribution to the population is driving this association. Expand
Understanding human DNA variants affecting pre-mRNA splicing in the NGS era.
TLDR
The Catalog of Somatic Mutations in Cancer (COSMIC) is explored to describe the proportion of splice-site mutations in cis and trans regulatory elements and to take advantage of recent advances in sequencing and computational technologies to analyze alternative splicing in cancer. Expand
A Scalable Saliva-based, Extraction-free RT-LAMP Protocol for SARS-Cov-2 Diagnosis
TLDR
This work has developed a straight saliva-based, RNA extraction-free, RT-LAMP test that is comparable to current nasopharyngeal swab RT-PCR tests in both sensitivity and specificity and therefore can be used for screening of SARS-CoV-2. Expand
Analysis of allelic differential expression in the human genome using allele-specific serial analysis of gene expression tags.
TLDR
It is suggested that at least 25% of the human genes display ADE and that allele-specific SAGE tags can be efficiently used for the identification of such genes. Expand
Intratumoral Genetic Heterogeneity in Rectal Cancer: Are Single Biopsies representative of the entirety of the tumor?
TLDR
Findings support that gene mutations found on single pretreatment biopsies will not necessarily be representative of mutations present in the entirety of the tumor and therefore may limit the utility of the biological information provided by single biopsy fragments for clinical management decisions. Expand
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