نتایج جستجو برای: mutations

تعداد نتایج: 172787  

زمانی, محمد, دانشی, احمد, ریاض‌الحسینی, یاسر, ریحانی‌فر, فرحناز, نجم‌آبادی, حسین, کهریزی, کیمیا, محسنی, مرضیه ,

    Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...

اصغر رامیار, , زهرا چاوش‌زاده, , فریبرز زندیه, , قاسم آهنگری, , محبوبه منصوری, , محمد حسن بمانیان, , محمد قره‌گزلو, , محمدرضا فضل‌الهی, , مرحوم ابوالحسن فرهودی, , مرضیه حیدر‌زاده, , مسعود موحدی, ,

Background: Mutations of ELA2, the gene encoding neutrophil elastase (NE) are known to be associated with cyclic neutropenia (CN) and severe congenital neutropenia (SCN). However, high variability of these mutations has been reported. This study was designed to describe the analysis of the ELA2 gene, clinical manifestations and demographic characteristics in patients with CN and SCN. Methods...

Journal: :iranian journal of public health 0
m hashemzadeh chaleshtori dd farhud ma patton

background: mutations in the gjb2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...

Journal: :iranian journal of virology 0
hossein keyvani department of virology, iran university of medical sciences, tehran, iran fatemeh ramezani hepatitis b molecular laboratory-department of virology-school of public health-tehran university of medical sciences, tehran, iran seyem mohamad jazayeri hepatitis b molecular laboratory-department of virology-school of public health-tehran university of medical sciences, tehran, iran seyed hamid reza monavari department of virology, iran university of medical sciences, tehran, iran farah bokharaei-salim department of virology, iran university of medical sciences, tehran, iran seyed moayed alavian middle east liver diseases center (meld centers) tehran, iran

abstract background: naturally occurred hepatitis b virus (hbv) with surface mutations in a variety of chronic hepatitis b (chb) patients who have received no vaccine or hbig bearing substitutions in surface protein, have been reported. objectives: current knowledge concerning the prevalence of these naturally occurring surface antigen mutations among iranian carriers is limited. patients and m...

Journal: :jundishapur journal of microbiology 0
sajad shahmoradi hepatitis b molecular laboratory, department of virology-school of public health, tehran university of medical sciences, tehran, ir iran mohammad hossein somi liver and gastrointestinal disease research center, eastern azarbyjan university of medical sciences, tabriz, ir iran mehdi norouzi hepatitis b molecular laboratory, department of virology-school of public health, tehran university of medical sciences, tehran, ir iran seyed moayed alavian baqiyatallah university of medical sciences, baqiyatallah research center for gastroenterology and liver disease, tehran, ir iran hadi karimzadeh hepatitis b molecular laboratory, department of virology-school of public health, tehran university of medical sciences, tehran, ir iran ramin rahimnia hepatitis b molecular laboratory, department of virology-school of public health, tehran university of medical sciences, tehran, ir iran

conclusions the distribution of amino acid mutations as well as the ratio between missense and silent nucleotide mutations (dn/ds) showed that a narrowly focused immune pressure had already been on the surface protein (especially ctl epitopes) which led to the emergence of escape mutants in these patients who were in tolerance phase of chronicity. materials and methods the surface genes from 17...

Journal: :acta medica iranica 0
payam dindoost department of gastroenterology, middle east liver diseases center (meld centers), tehran, iran. narges chimeh department of psychiatry, family research institute, shahid beheshti university, tehran, iran. blain f hollinger department of gastroenterology, baylor college of medicine one baylor plaza, houston, usa. esmaeil saberfar department of virology, bayerpaul (bp) vaccines and pharmaceutical company, tehran, iran. mehdi norouzi department of virology, faculty of public health, tehran university of medical sciences, tehran, iran. seyed mohammad jazayeri department of virology, faculty of public health, tehran university of medical sciences, tehran, iran.

occult hepatitis b (ohb), or persistent hepatitis b virus (hbv) viremia in surface-antigen-hbsag-negative patients, has been recognized as a medical concern during the last decade. the exact magnitude, pathogenesis and clinical relevance of ohb are unclear. this review organizes the published data on ohb and presents an overview of the current hypotheses on ohb's pathogenesis and clinical relev...

Background: In various cancers, Ganoderic Acid A (GAA), an active triterpenoid derived from Ganoderma Background: Thalassemia refers to a category of inherited disorders resulting from defects in synthesizing one or several chains of hemoglobin (Hb). The present study aimed to determine the frequency of alpha and beta-thalassemia mutations in Kurdistan province, Iran. Materials and Methods: In...

صالحی, رسول, صالحی, منصور, نصر اصفهانی, بهرام,

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...

Journal: :journal of kermanshah university of medical sciences 0
nasibe karimi ali bidmeshkipour keyghobad ghadiri reza alibakhshi

introduction: cystic fibrosis (cf) is a common genetic disorder in white populations with an autosomal recessive pattern, caused by mutations in the cftr gene. the frequency of more than 1950 various mutations reported in the cftr gene significantly varies in different populations. ∆f508 is a common mutation in exon 10, which is first addressed in the molecular analysis of the disease. other ex...

E Mohiti R Pourahmad Jaktaji

Quinolones are a large and widely consumed class of synthetic drugs. Expanded-spectrum quinolones, like ciprofloxacin are highly effective against Gram-negative bacteria, especially Escherichia coli. In E. coli the major target for quinolones is DNA gyrase. This enzyme is composed of two subunits, GyrA and GyrB encoding by gyrA and gyrB, respectively. Mutations in either of these genes cause qu...

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