نتایج جستجو برای: x gene mutations
تعداد نتایج: 1789763 فیلتر نتایج به سال:
Background: Breast cancer is one of the most common cancer of women in the world. Although different genetic alteration has been reported in this malignancy, but P 53 gene mutations has more frequency. P 53 gene is one of the most important suppressor genes and it play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...
Background: Affecting more than 400 million people worldwide, glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is the most common enzymopathy in the world. In Northern provinces of Iran high rates of incidence of the disease have been reported (8.7% to16.4% of the whole population) and most of these patients carry one of the three common G6PD gene mutations: Mediterranean, C...
Background and purpose: Influenza is one of the viral infections of the respiratory system, which causes death in high-risk groups every year. The genomic changes of influenza virus make it susceptible to drug resistance, therefore, continuous monitoring of the influenza virus is highly important in order to recognize the efficacy of available drugs. The current study investigated the neuramin...
Background and Objective: The drug resistance mutations are key elements in the failure of long-term treatment of Hepatitis B virus (HBV) and human immunodeficiency virus (HIV) infections. The mutation in the YMDD motif in the P gene of HBV is the most critical factor in antiviral drug (especially lamivudine) resistance. This study aimed to assess the YMDD motif and other polymerase gene mutati...
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
Background: The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by mutations in the gene for Bruton's tyrosine kinase (BTK). BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Methods: Using the anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify I...
Background: Clarithromycin resistance in Helicbacter pylori has been found to be associated with point mutations in 23s rRNA gene leads to reduced affinity of the antibiotic to its ribosomal target or changing the site of methylation. The aim of this study was to determine the most important point mutations in 23s rRNA gene in H. pylori that are closely related to clarith-romycin resistance amo...
background: the b-cell defect in x-linked agammaglobulinemia (xla) is caused by mutations in the gene for bruton's tyrosine kinase (btk). btk mutations result in deficient expression of btk protein in peripheral blood monocytes. methods: using the anti-btk monoclonal antibody (48-2h), a flow cytometric analysis of intra cytoplasmic btk protein expression in monocytes was performed to ident...
Introduction: Mucopolysaccharidosis I (MPS-I) is an autosomal recessive lysosomal storage diseases, caused by α-L-iduronidase (IDUA) enzyme deficiency. The clinical manifestations of MPS-I patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. From when IDUA gene has been cloned more than 109 distinct mutations have been identified in it an...
scid disorder is major failure of the immune system, usually genetic. the aim of this study was on mutations detection of rag1, rag2, and il7rg genes in scid cases. mutation detection was performed by pcr sequencing. our results indicated that 13 mutations were found through cases which include 4 mutations in il7r gene (t661i, i138v, t56a, c57w), 7 mutations in rag1 (w896x, w204r, m324v,...
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