Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06889 (Mol)
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The measurement of functional and phenotypic P-glycoprotein by flow cytometry is suitable for cells in suspension, and is particularly appropriate for blood and bone marrow cells. We describe a functional assay for P-glycoprotein using rhodamine 123, an assay for daunorubicin accumulation, and an assay to measure P-glycoprotein levels using the MRK16 antibody. Our protocols include the use of an anti-CD45 antibody for the identification of leukemic blasts. The protocols described in this chapter were designed for use in studies accompanying UK Medical Research Council Trials of patients with Acute Myeloid Leukaemia and High Risk Myelodysplastic Syndrome (>10% blasts). These assays are performed in more than one UK Centre, and hence each assay has been subjected to rigorous reproducibility testing.
Methods Mol Med 2005
PMID:Flow cytometric measurement of functional and phenotypic P-glycoprotein. 1591 79

Insight into the molecular mechanism of complex diseases is an important topic in the current bio-medical research. However, different from the single-gene disorders, high heterogeneity of many of the complex diseases prevents scientists from the exact understanding of the etiology. In this study, we used Myelodysplastic Syndromes (MDSs), a heterogeneous family of clonal disorders of hematopoietic stem cells, as a general model to explore the network properties of the heterogeneity of complex diseases. First, static bioinformatics analysis suggests that despite the huge heterogeneity of MDSs, their clinical properties can be explained well by the local properties of MDS-related genes on the human interactome. Then we design a novel systems biological method to explore the pattern of genetic abnormality propagation of a real MDS cohort by integrating flowcytometry, genotyping, gene expression profiling, expression quantitative trait loci (eQTLs) mapping and pathway inference. We constructed a MDS disease gene network which suggests the network basis of the heterogeneity of MDSs. The pipeline we proposed and the implication the results suggest may be helpful in the research of other complex diseases.
Mol Biosyst 2011 Jun
PMID:The network properties of myelodysplastic syndromes pathogenesis revealed by an integrative systems biological method. 2150 50

The aim of the present study is to evaluate the frequency of C609T polymorphism in the NQO1 (NAD(P)H) quinon oxydoreductase) gene and its relation to cytogenetic abnormalities in patients with Myelodysplastic Syndrome (MDS). The study group consisted of 80 patients MDS with 13 of them in the pediatric age group. The frequency of the NQO1 gene polymorphism was compared with a healthy control group involving 423 individuals. Cytogenetic abnormalities were detected in 43 patients (54%). In patients with MDS the overall frequency of the C609T polymorphism was not different than controls. Also, although the frequency of the C609T polymorphism was higher in patients with secondary MDS (sMDS) (OR: 1.893, 95% CI: 0.840-4.265, p=0.238) , 5/del(5q) (OR:1.298, 95% CI: 0.331-5.086,p=0.124), +21(OR:1.817, 95% CI:0.429-7698,p=0.124) and t(8;21) (OR:3.028, 95% CI: 0.604-15.172,p=0.137) groups, the difference did not reach statistical significiance. Our results do not support the view that the C609T polymorphism has a role in the pathogenesis of MDS. Also the frequency of the C609T allele did not seem to be associated with cytogenetic abnormalities.
Cell Mol Biol (Noisy-le-grand) 2016 Jun 30
PMID:The frequency of C609T polymorphism in the NQO1 gene and its relation to cytogenetic abnormalities in patients with myelodysplastic syndrome. 2745 74