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Pharmacogenomics ; 17(4): 393-403, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26895070

RESUMO

AIM: Hemoglobinopathies exhibit a remarkable phenotypic diversity that restricts any safe association between molecular pathology and clinical outcomes. PATIENTS & METHODS: Herein, we explored the role of genes involved in the nitric oxide biosynthesis and signaling pathway, implicated in the increase of fetal hemoglobin levels and response to hydroxyurea treatment, in 119 Hellenic patients with ß-type hemoglobinopathies. RESULTS: We show that two ASS1 genomic variants (namely, rs10901080 and rs10793902) can serve as pharmacogenomic biomarkers to predict hydroxyurea treatment efficacy in sickle cell disease/ß-thalassemia compound heterozygous patients. CONCLUSION: These markers may exert their effect by inducing nitric oxide biosynthesis, either via altering splicing and/or miRNA binding, as predicted by in silico analysis, and ultimately, increase γ-globin levels, via guanylyl cyclase targeting.


Assuntos
Anemia Falciforme/genética , Antidrepanocíticos/uso terapêutico , Argininossuccinato Sintase/genética , Hidroxiureia/uso terapêutico , Óxido Nítrico/biossíntese , Talassemia beta/genética , Anemia Falciforme/complicações , Anemia Falciforme/tratamento farmacológico , Estudos de Casos e Controles , Variação Genética , Humanos , Óxido Nítrico/genética , Óxido Nítrico Sintase Tipo I/genética , Óxido Nítrico Sintase Tipo II/genética , Talassemia beta/complicações , Talassemia beta/tratamento farmacológico
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