نتایج جستجو برای: i mutation
تعداد نتایج: 1302420 فیلتر نتایج به سال:
Introduction: Imaging a non-small cell lung cancer (NSCLC) using radiolabeled tyrosine kinase inhibitors (TKIs) has attracted attention due to their unique interaction with the target epidermal growth factor receptor (EGFR). Olmutinib (OTB) is one of third-generation EGFR TKIs, which selectively inhibit L858R/T790M mutation. In this study, we aim estimate iodinated OTB (I-OTB)-receptor complex ...
introduction: cleft lips and cleft palates are common congenital abnormalities in children. various chromosomal loci have been suggested to be responsible the development of these abnormalities. the present study was carried out to investigate the association between the suspected genes (methylenetetrahydrofolate reductase [mthfr] a1298c and c677t) that might contribute into the etiology of the...
Objective(s): Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...
Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia suspected when typical symptom of with concurrent identified, it sometimes difficult to diagnose without test. Clinically, next generation sequencing technology has been developed widely used for diagnosis disease. Hereby, we experienced cases genetically confirmed <i...
Steroidogenic factor-I (SF-I, NR5A1) is an orphan nuclear receptor that regulates the transcription of multiple target genes involved in steroidogenesis, reproduction and male sexual differentiation. Unlike most nuclear receptors, SF-I binds to the response elements of these genes as a monomer and recognizes variations on the extended half site, PyCA AGGTCA. Recently, we described a heterozygou...
The mitochondrial DNA hypervariable segment I (HVS-I) is widely used in studies of human evolutionary genetics, and therefore accurate estimates of mutation rates among nucleotide sites in this region are essential. We have developed a novel maximum-likelihood methodology for estimating site-specific mutation rates from partial phylogenetic information, such as haplogroup association. The resul...
Abstract Background Thalassemia is common in the Iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. The molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. Α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly loc...
one of the traits of the greatest financial impact on sheep production is the number of lambs weaned per ewe with fecb considered as the most well known major gene concerned with this trait. in order to conduct a marker assisted introgression (mai) program the presence of fecb responsible mutation in afshari sheep breeding flock was surveyed. direct test to detect fecbb allele was conducted on ...
Tumaco, Colombia, is an area with elevated rates of tropical spastic paraparesis/human T-cell leukemia virus type I (HTLV-I)-associated myelopathy (TSP/HAM). We have identified a mutation in nucleotide 7959 of the tax gene of 14 Tumaco HTLV-I isolates (14 positive of 14 tested) that was present in 5 of 14 (35%) TSP/HAM patients from Japan and in 8 of 11 (72%) TSP/HAM patients from other geograp...
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