نتایج جستجو برای: g145r mutation
تعداد نتایج: 291423 فیلتر نتایج به سال:
Background and Aim: FLT3 gene is a member of class III receptor Tyrosine Kinase, which is expressed in most patients with acute myeloid leukemia (AML). Mutations of FLT3 such as Internal Tandem Duplication (ITD) and point mutation of the D835 are the most common genetic defects in myeloid leukemia. These two mutations in patients with MLA and their effect on survival rate were studied for the f...
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
Background: We aimed to investigate the etiologic causes and the existence of Janus kinase 2 mutation (JAK2) in cases with thrombocytosis. Methods: In this retrospective study, patients, who were admitted to hematology clinic with thrombocytosis between 2013 and 2015, were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. Results: We retrospe...
Background: This study aimed to assess the frequency determination of c.1115_1118delTTGG and c.3788_3790delTCT Fanconi's anemia A gene (FANCA) gene mutation in the North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population. Materials and Methods: A cross-sectional study was conducted at Khyber Medical University, Peshawar, Pakistan. For the Exon 13 mutation c.1115_1118delTTGG, the ...
hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...
background: non-dystrophic myotonias are a heterogeneous set of skeletal, muscular channelopathies, which have been associated with point mutations within sodium channel α-subunit (scn4a) gene. because exons 22 and 24 of scn4a gene are recognized as hot spots for this disease, the purpose of the study is to identify mutation in exons 22 and 24 of scn4a gene in iranian non-dystrophic myotonias p...
introduction : myeloproliferative neoplasms (mpns) are a group of clonal malignant hematologic disease, where the main and common members are; polycythemia vera (pv), primary myelofibrosis (pmf), and essential thrombocytosis (et). these group of diseases are able to be transformed into each other. methods: this cross sectional study conducted the evaluation of jak2v161f mutation in dna in per...
glucose-6-phosphate dehydrogenase (g6pd) is a greatly polymorphic enzyme encoded by human x-linked gene. g6pd deficit is the most public enzymopathy in human with about 400 million people affected globally. it is the main controlling enzyme in the hexose monophosphate shunt catalase the oxidation of glucose-6-phosphate to 6-phosphogluconolacton and the creation of reducing equals in the form o...
Background & Objective: FLT3-ITD mutation detection has been an integral part of diagnostic work ups focused on acute myeloid leukemia. However, some studies have indicated that the mutation is unstable during the various stages of the disease. The purpose of this study was to evaluate the stability of this marker in paired diagnosis-relapse samples using Delta-PCR method. Materials & Methods:...
Many kinds of mutations in mitochondrial (mt) DNA have been reported to be related to the development of Diabetes Mellitus (DM), this type of diabetes has also been shown to be influenced by other genetic factors and/or environmental factors. Among them, tRNALeu(UUR) and its adjacent mtDNA NADH dehydrogenase subunit 1(ND1) region within the mt genome are linked to high susceptibility to DM. A p...
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