نتایج جستجو برای: mutations
تعداد نتایج: 172787 فیلتر نتایج به سال:
Abstract Background: Investigators were suspicious of tyrosine-methionine-aspartate-aspartate (YMDD) mutations occurred only in patients who were treated by lamivudine. However, YMDD mutations of hepatitis B virus gene (HBV DNA) in patients with chronic hepatitis B (CHB) untreated with antiviral medicines was reported in some studies. The aim of this study was to evaluate YMDD mutations in Ira...
Background and Objective: Spina Bifida (SB) is a congenital malformation and is a result of the failure of the closure and failure of the neural tube. The causes and mechanisms of genetic involvement involved in the onset of SB are still ambiguous. The present study addresses the genetic variation in SB disease using Next Generation Sequencing (NGS) as a powerful molecular tool for comprehensiv...
the aim of this study was to investigate the frequency, location and type of rpob gene mutations in mycobacterium tuberculosis (mtb) collected from patients in the southern endemic region of iran. drug susceptibility testing was determined by using the bactec system and the center for diseases control’s (cdc) standard conventional proportional method. in 29 rifampicin-resistant mtb (85%) isolat...
Background and Objectives: Breast cancer (BC) is the most common invasive malignancy affecting women worldwide. The tumor-suppressor P53 gene (P53) is frequently mutated in breast tumors. To use P53 as a target for therapy, it is important to accurately assess p53 mutation status in tumor samples. Materials and Methods: A total of 102 tumor samples were collected from breast cancer patients ref...
KRAS and BRAF mutations in Iranian colorectal cancer patients: A systematic review and meta-analysis
Background: Mutations in the EGFR signaling pathway play an important role in the development of colorectal cancer (CRC). Mutations in these genes, like KRAS and BRAF, affect the treatment strategies and associated with poor prognosis and relative resistance to anti-EGFR therapies. Our aim was to conduct a systematic and meta-analysis on all studies that have been conducted on the prevalence of...
Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
Background: Phenylketonuria (PKU), the most common inborn error of aminoacid metabolism, is an autosomal recessive disorder caused by more than 600 mutations in Phenylalanine Hydroxylase gene (PAH). Distribution pattern of mutations in the PAH gene are specific to each population. The aim of this study was to identify mutations in exons 10 and 11 of the PAH gene in patients with PKU from Golest...
Background and purpose: Phenylketonuria (PKU), a genetic disorder with an autosomal recessive pattern of inheritance, is mainly due to phenyalanine hydroxylase deficiency. In Iran, many studies have investigated the genetics of this disease among different populations. This study aimed to report the frequencies of the mutations for each population as determined in different studies. Material...
Background and Aims: DNA methyltransferase3A (DNMT3A) is necessary for the adjustment of gene expression, and the mutations in the DNMT3A gene are reported in a variety of leukemia cases. DNMT3A mutations are during cancer progression and cause poor prognosis in many leukemias. Thus, this gene can be a target for new treatments. This study aimed to examine the distribution of DNMT3A mutations i...
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