نتایج جستجو برای: mutation

تعداد نتایج: 291413  

ژورنال: پیاورد سلامت 2009
بهار, بابک, توگه, غلام رضا, درگاهی, حسین, علی مقدم, کامران, غفاری, حمیداله, قوام زاده, اردشیر, نادعلی, فاطمه, چهاردولی, بهرام, کریم زاده, پریسا,

Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...

  Objective(s): The major antibiotic efflux pump of Esherichia coli is AcrAB-TolC. The first part of the pump, AcrAB, is encoded by acrAB operon. The expression of this operon can be kept elevated by overexpression of an activator, MarA following inactivation of MarR and AcrR repressors due to mutation in encoding genes, marR and acrR, respectively. The aims of this research were to us...

ژورنال: پژوهش در پزشکی 2004
طاهره غازیانی, , حسین سندی, , محمد رضا آگاه, , محمد رضا زالی, , مریم جزایری, , پیمان ادیبی, ,

Background : Finding an association between HFE mutations and hepatitis C especially in those with iron overload is the focus of recent researches. We examined the frequency of these mutations and ferritin level in a group of patients with different stages of hepatitis B and healthy individuals.  Materials and methods : A total of 75 (18 carrier, 57 chronic) cases of HBsAg positive patients and...

ژورنال: پیاورد سلامت 2013
اژدری, عبدالطیف, عباسی, سکینه, محمدی, شاهین,

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...

ژورنال: Medical Laboratory Journal 2012
Alizadeh Sharg Sh, , Dolatkhah H, , Movahedian A, , Rahmani S Z, ,

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 ...

Gedik, Habip, Yokus, Osman,

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 ...

Journal: :international journal of molecular and cellular medicine 0
shahram torkamandi department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) milad gholami department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) javad mohammadi asl ahvaz jundishapour university of medical sciences, ahvaz, iran.سازمان های دیگر: . noor genetics laboratory, ahvaz, iran somaye rezaie department of neurology, imam hossein hospital, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) mohammad ali zaimy department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) mir davood omrani department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

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...

Journal: :iranian journal of neurology 0
mohammad mehdi heidari department of biology, school of science, yazd university, yazd, iran mehri khatami department of biology, school of science, yazd university, yazd, iran shahriar nafissi department of neurology, school of medicine, tehran university of medical sciences, tehran, iran faezeh hesami-zokai department of biology, school of science, yazd university, yazd, iran afshin khorrami department of biology, school of science, yazd university, yazd, iran

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...

Journal: :international journal of hematology-oncology and stem cell research 0
akram asghari hematology-oncology department, rasul akram hospital, tehran university of medical sciences, tehran, ali shahriari ahmadi hematology-oncology department, rasul akram hospital, tehran university of medical sciences, tehran, iran ali basi hematology-oncology department, firoozgar hospital, tehran university of medical sciences, tehran, iran masood vkili hematology-oncology department, rasul akram hospital, tehran university of medical sciences, tehran, iran mohsen razavi hematology-oncology department, firoozgar hospital, tehran university of medical sciences, tehran, iran mohsen arabi hematology-oncology department, rasul akram hospital, tehran university of medical sciences, tehran, iran

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...

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