W.A. Silva Jr.

Publications of : W.A. Silva Jr.

Human Genetics Research Article

Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil

Familial hypercholesterolemia (FH) is a dominant, autosomal disease characterized by high LDL levels in blood plasma, and is caused by a defect in the gene encoding the LDL receptor (LDLR). The clinical diagnosis is based on personal and familial history, physical examination findings, and measures of high LDL cholesterol concentrations. LDLR is a cell-surface glyco.. Read More»

Genet. Mol. Res. 16(3): gmr16039226

DOI: 10.4238/gmr16039226

Medical Genetics Research Article

Gene expression study related with the intrinsic pathway of apoptosis in bladder cancer by real-time PCR technique

D.F. Barione, F.S.N. Lizarte, P.C. Novais, C.A.M. de Carvalho, F.C.B. Valeri, F.M. Peria, H.F. de Oliveira, D.L. Zanette, W.A. Silva Jr., A.J. Cologna, R.B. Reis, S. Tucci Jr., A.C.P. Martins, D.P.C. Tirapelli and L.F. Tirapelli

We examined the expression of anti-apoptotic genes (XIAP and Bcl-2) and apoptotic genes (cytochrome c, caspase-9, Apaf-1) in tissue samples of patients with superficial bladder cancer. Thirty-two bladder cancer tissue samples (8 papillary urothelial neoplasm of low malignant potential, 10 low-grade, and 14 high-grade) and 8 normal bladder tissue samples from necropsy were used for the study of .. Read More»

Genet. Mol. Res. 12(2): 2013.April.2.4

DOI: 10.4238/2013.April.2.4

Cytogenomics Research Article

Report of a chimeric origin of transposable elements in a bovine-coding gene

L.M. Almeida, M.E.J. Amaral, I.T. Silva, W.A. Silva Jr., P.K. Riggs and C.M. Carareto

Despite the wide distribution of transposable elements (TEs) in mammalian genomes, part of their evolutionary significance remains to be discovered. Today there is a substantial amount of evidence showing that TEs are involved in the generation of new exons in different species. In the present study, we searched 22,805 genes and reported the occurrence of TE-cassettes in coding sequences of 542.. Read More»

Genet. Mol. Res. 7(1): vol7-1gmr371

DOI: 10.4238/vol7-1gmr371

Plant Genetics Research Article

Global gene expression profile in myelodysplastic syndromes using SAGE

C.F. Mendiburu, W.A. Silva Jr., O. Ricci Jr., C.R. Bonini-Domingos and A.C. Fett-Conte

The molecular pathogenesis of myelodysplastic syndromes (MDS) is poorly understood. In order to expand our knowledge of genetic defects in MDS, we determined the overall profile of genes expressed in bone marrow from patients with refractory anemia with excess blasts (RAEB) by serial analysis of gene expression (SAGE). The present report describes a partial transcriptome of RAEB bone marrow der.. Read More»

Genet. Mol. Res. 7(4): vol7-4gmr521

DOI: 10.4238/vol7-4gmr521

Human Genetics Research Article

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

The main purpose of this research was to analyze the relation of the genetic polymorphisms frequently expressed by antigen-presenting cells, erythrocytes and malaria susceptibility/resistance with the human malaria infection cases. The sample used consisted of 23 Plasmodium vivax (Pv)- and P. falciparum (Pf)-infected patients, and 21 healthy individuals as a control group, from the Baixo Amazon.. Read More»

Genet. Mol. Res. 7(4): vol7-4gmr439

DOI: 10.4238/vol7-4gmr439