نتایج جستجو برای: mutations
تعداد نتایج: 172787 فیلتر نتایج به سال:
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...
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...
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 here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...
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...
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...
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...
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...
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...
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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