Consulta: creatorFacets:"Nonino,A."
Registros recuperados: 2
Data/hora: 02/06/2024 07:34:20

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients
Provedor de dados: 56
Autores: Rozenberg,R.; Araújo,F.T.; Fox,D.C.; Aranda,P.; Nonino,A.; Micheletti,C.; Martins,A.M.; Cravo,R.; Sobreira,E.; Pereira,L.V.
Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47% of all the alleles, but N370S/N370S homozygosity was found in only 10% of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention....
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Gaucher disease; GBA gene; Allele dose-effect.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004

CD47 expression is decreased in hematopoietic progenitor cells in patients with myelofibrosis
Provedor de dados: 56
Autores: Nonino,A.; Nascimento,J.M.; Mascarenhas,C.C.; Mazzeu,J.F.; Pereira,R.W.; Jacomo,R.H.
Myelofibrosis (MF) is characterized by increased circulating hematopoietic progenitor cells (HPCs), abnormal cytokine levels, and the survival advantage of neoplastic progenitors over their normal counterparts, which leads to progressive disappearance of polyclonal hematopoiesis. CD47 is a surface glycoprotein with many functions, such as acting as a phagocytosis inhibitor of the expressing cell, that is increased in normal hematopoietic stem and progenitor cells mobilized into the blood and several human cancer-initiating cells, such as in acute myeloid leukemia. We compared CD47 expression in hematopoietic stem and progenitor cells of patients with MF and controls and found it to be decreased in progenitors of MF. Exposure of control HPCs to the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Myeloproliferative disorders; Primary myelofibrosis; Hematopoietic stem cells; Neoplastic stem cells; Antigens; CD47.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000100610