نتایج جستجو برای: amplified refractory mutation system
تعداد نتایج: 2553865 فیلتر نتایج به سال:
Abstract Background The prevalence and genotypes of G6PD deficiency vary worldwide, with higher in malaria endemic areas. first-time assessment molecular characterization mutations the Lao Theung population were performed this study. Methods A total 252 unrelated participants residing People’s Democratic Republic (PDR) recruited. All participant samples tested for enzyme activity gene mutations...
Objective(s):Organic anion transporter polypeptide 1B1 (OATP1B1) encoded by solute carrier organic transporter 1B1 (SLCO1B1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. Aim of this study was to investigate the frequencies of functionally significant SNPs (388A>G and 521T>C) and their haplotypes in 6 ethnic groups of ...
Background: The transversion of G to T (G894T) in human endothelial nitric oxide synthase (eNOS) gene has profound effects such as male infertility, recurrent miscarriage, multiple sclerosis and cardiovascular diseases.Objectives: Development of a new Multiplex Tetra-Primer Amplifi cation Refractory Mutation System - Polymerase Chain Reaction (T-ARMS-PCR) for detection of...
Backgrounds and Aims: P53 gene is regarded important in pathogenesis of different cancers. Therefore, this study aimed to investigate the frequency of p53 gene codon 72 Arg/Pro polymorphism in women suffering from breast cancer. Materials and Methods: A total of 90 patients with breast cancer and 83 matched healthy control women participated in this case-control study. Genomic DNA was extrac...
Background & aim: Recurrent pregnancy loss is defined as loosing at least 2 pregnancies before 20th weeks of gestation. Besides all the known causative factors, in about half of the cases, the causing factor, remains unknown. In recent years, some studies have shown the role of candidate genes polymorphisms in RPL. CDH1 is one of these candidate genes that plays critical role in embryo implanta...
Background: Individuals respond to statins differently due to genetic variations. One of the most significant enzymes involved in drug metabolism is CYP2D6 enzyme, coded by the CYP2D6 gene. Individuals who carry two non-functional alleles in this gene are considered as poor metabolizers (PMs). Recognizing poor metabolizers might help in preventing adverse effects of drugs. Objective: In this ...
background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...
in this study, slag penetration into a magnesia refractory monolithic was investigated by the crucible test method. a synthetic calcium aluminate slag system has been used to study commercial magnesia mix refractory for 1, 2, 3, 4, 5 and 6 hours at 1450°c and 1600°c. it has been shown that the penetration rate is controlled by a diffusion mechanism at 1450°c. in this case, capillaries are the ...
BACKGROUND Epidermal growth factor receptor (EGFR) mutation status is crucial in treatment selection for non-small cell lung cancer (NSCLC) patients; however, the detection materials' availability remains challenging in clinical practice. In this study, we collected surgical resection tissues, lymph node biopsy, and cytological samples for EGFR mutation testing and investigated the associations...
PURPOSE We undertook a multidimensional clinical genomics study of children and adolescent young adults with relapsed and refractory cancers to determine the feasibility of genome-guided precision therapy. EXPERIMENTAL DESIGN Patients with non-central nervous system solid tumors underwent a combination of whole exome sequencing (WES), whole transcriptome sequencing (WTS), and high-density sin...
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