Consulta: creatorFacets:"Sandrin-Garcia,Paula"
Registros recuperados: 3
Data/hora: 10/06/2024 06:40:26

CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome
Provedor de dados: 74
Autores: Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide.
Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727

Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
Provedor de dados: 74
Autores: Sandrin-Garcia,Paula; Richieri-Costa,Antonio; Tajara,Eloiza Helena; Carvalho-Salles,Andréa Borduchi; Fett-Conte,Agnes Cristina.
The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Velocardiofacial syndrome; 22q11.2 deletion.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100006

Alterations in gene expression profiles correlated with cisplatin cytotoxicity in the glioma U343 cell line
Provedor de dados: 74
Autores: Carminati,Patricia Oliveira; Mello,Stephano Spano; Fachin,Ana Lucia; Junta,Cristina Moraes; Sandrin-Garcia,Paula; Carlotti,Carlos Gilberto; Donadi,Eduardo Antonio; Passos,Geraldo Aleixo Silva; Sakamoto-Hojo,Elza Tiemi.
Gliomas are the most common tumors in the central nervous system, the average survival time of patients with glioblastoma multiforme being about 1 year from diagnosis, in spite of harsh therapy. Aiming to study the transcriptional profiles displayed by glioma cells undergoing cisplatin treatment, gene expression analysis was performed by the cDNA microarray method. Cell survival and apoptosis induction following treatment were also evaluated. Drug concentrations of 12.5 to 300 μM caused a pronounced reduction in cell survival rates five days after treatment, whereas concentrations higher than 25 μM were effective in reducing the survival rates to ~1%. However, the maximum apoptosis frequency was 20.4% for 25 μM cisplatin in cells analyzed at 72 h,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Apoptosis; Cisplatin; Gene expression; Glioma.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100027