نتایج جستجو برای: mutation analysis

تعداد نتایج: 3045422  

Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

Journal: :iranian journal of allergy, asthma and immunology 0
sepideh safaei immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran mohammad reza fazlollahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran masoud houshmand national institute of genetic engineering biotechnology tehran, iran amir ali hamidieh hematology oncology & stem cell transplantation research center, tehran university of medical sciences, tehran, iran mohammad hassan bemanian department of pediatrics , division of allergy and clinical immunology, shahid sadoghi hospital, shahid sadoghi university of medical sciences, yazd, iran samin alavi department of pediatric hematology-oncology, mofid children's hospital, shahid beheshti university of medical sciences, tehran, iran

wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia,  eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia  (xlt) that  presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...

Journal: :iranian journal of medical sciences 0
mohammad miryounesi genomic research center, shahid beheshti university of medical sciences, tehran, iran; soudeh ghafouri-fard department of medical genetics, shahid beheshti university of medical sciences, tehran, iran; majid fardaei department of medical genetics, shiraz university of medical sciences, shiraz, iran

congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...

Journal: :hepatitis monthly 0
giuseppe fabio parisi department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy giovanna di dio department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy chiara franzonello department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy alessia gennaro department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy novella rotolo department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy elena lionetti department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy

context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...

Journal: :hepatitis monthly 0
bo qin shaoxing centre for disease control and prevention, shaoxing, china; state key lab of virology, wuhan institute of virology, chinese academy of sciences, wuhan, china; shaoxing center for disease control and prevention, shaoxing, china. tel: +86-57588137362, fax: +86-57588137333 bo zhang state key lab of virology, wuhan institute of virology, chinese academy of sciences, wuhan, china xiaodong zhang college of life science, shaoxing university, shaoxing, china tingting he shaoxing centre for disease control and prevention, shaoxing, china wenying xu shaoxing centre for disease control and prevention, shaoxing, china lijun fu shaoxing centre for disease control and prevention, shaoxing, china

background nucleus(t)ide analogs (nas), containing lamivudine (lmv), adefovir dipivoxil (adv), endeavor (etv), telbivudine (ldt), and tenofovir (tdf) are widely used for the treatment of chronic hepatitis b (chb), but long term anti-hepatitis b virus (hbv) therapy with nas may give rise to the emergence of drug-resistant viral mutants. objectives this study aimed to find and identify some new r...

Journal: :Journal of Theoretical Biology 2021

• Mutation-selection balance at two linked loci can be fully investigated. Dynamics of loss wild-type alleles depend on the type epistasis. After Muller's ratchet clicks, a deleterious allele is fixed by selection. We report complete analysis deterministic model mutations and negative selection against them haploid without recombination. As long as mutation weaker force than selection, mutant r...

Journal: :iranian journal of blood and cancer 0
majid yavarian mozhgan shahian mehran karimi narges rezaie

background: the frequency of pyruvate kinase (pk) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. the purpose of this study is to obtain data on the frequency and spectrum of gene mutation of pk in newborns, from shiraz and surrounding areas. materials and methods...

Journal: :مجله بین المللی زیست و زیست پزشکی 0
reza tabaripoor department of cellular and molecular biology, islamic azad university, babol branch, iran haleh akhavan niaki department of genetics, faculty of medicine, babol university of medical sciences, babol, iran mohammad reza esmaeili dooki non-communicable pediatric diseases research center, babol university of medical sciences, babol, iran tahereh dadkhah cellular and molecular biology research center, babol university of medical sciences, babol, iran ali mohammad shirafkan islamic azad university, damghan branch, iran elham ghadami department of genetics, faculty of medicine, babol university of medical sciences, babol, iran

cystic fibrosis (cf) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (cftr) protein. the frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. the aim of this study was to perform a comprehensive analysis of the c...

Journal: :journal of cellular and molecular anesthesia 0
akbar dorgalaleh department of hematology and blood transfusion, school of allied medicine, iran university of medical sciences, tehran shadi tabibian department of hematology and blood transfusion, school of allied medicine, iran university of medical sciences, tehran bijan varmaghani department of hematology and blood transfusion, school of allied medicine, iran university of medical sciences, tehran gholam hossein tamaddon department of hematology and blood transfusion, school of allied medicine, shiraz university of medical sciences, shiraz, iran hasan boustani department of hematology and blood transfusion, school of allied medicine, ilam university of medical sciences, ilam, iran

background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...

Objective(s):Sulfur mustard (SM) was used by the Iraqi army against the Iranian troops in the Iran-Iraq war from 1983–1988. This chemical gas affects different organs including the skin, lungs and the hematopoietic system. Any exposure to SM increases the risk of chromosomal breaking, hyperdiploidy and hypodiploidy. Studies have shown that the risk for acute myeloblastic and lymphoblastic leuke...

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