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| Ribeiro,M.L.; Santos,A.; Carvalho-Salles,A.B.; Hackel,C.. |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer. We studied 200 individuals from two cities in the State of São Paulo, by PCR, PCR-RFLP and ASOH techniques. The allelic frequencies of the autosomal markers and the StuI polymorphism of the AR gene were very similar to those described in most North American and European populations. In relation to the CAG and GGN number of repeats, the study subjects had smaller repeat lengths (mean of 20.65 and 22.38, respectively) than those described in North American, European and Chinese populations. In the present study, 30.5%... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prostate cancer; Polymorphisms; AR; SRD5A2; CYP17. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200009 |
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| Benites,B.D.; Fattori,A.; Hackel,C.; Lorand-Metze,I.; De Souza,C.A.; Schulz,E.; Costa,F.F.; Saad,S.T.O.. |
| Apoptotic protease activating factor 1 (APAF-1) has a critical role in the regulation of apoptosis. In the present study, the mRNA expression analysis of different APAF-1 transcripts (APAF-1S, APAF-1LC, APAF-1LN, and APAF-1XL) was analyzed in bone marrow samples from 37 patients with acute myeloid leukemia (newly diagnosed, with no previous treatment). APAF-1XL and APAF-1LN transcripts (with and without an extra WD-40 repeat region, respectively) were detected in all samples, although the major form expressed was APAF-1XL in 65% of the samples (group 1), while 35% of the samples expressed primarily APAF-1LN (group 2). Only 46% of the patients presented complete remission in response to remission induction therapy (represented by less than 5% marrow blasts... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: APAF-1; Acute myeloid leukemia; Apoptosis; Chemotherapy resistance. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000700004 |
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| Tagliarini,E.B.; Assumpção,J.G.; Scolfaro,M.R.; Mello,M.P. de; Maciel-Guerra,A.T.; Guerra Júnior,G.; Hackel,C.. |
| The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation. In addition to causing Wilms' tumor, mutations in WT1 are often responsible for urogenital defects in men, while SRY mutations are mainly related to 46,XY pure gonadal dysgenesis. In order to evaluate their role in abnormal testicular organogenesis, we screened for SRY and WT1 gene mutations in 10 children with XY partial gonadal dysgenesis, 2 of whom with a history of Wilms' tumor. The open reading frame and 360 bp of the 5' flanking sequence of the SRY gene, and the ten exons and intron boundaries of the WT1 gene were amplified by PCR of genomic DNA. Single-strand... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: XY partial gonadal dysgenesis; SRY open reading frame; SRY 5' untranslated region; WT1 exons; Denys-Drash syndrome. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000100004 |
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| Cabral,D.F.; Maciel-Guerra,A.T.; Hackel,C.. |
| We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Androgen receptor gene; Gene mutations; Androgen insensitivity syndromes; Male pseudohermaphroditism. |
| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008 |
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