نتایج جستجو برای: med12 mutations
تعداد نتایج: 172942 فیلتر نتایج به سال:
The p53 transcriptional network orchestrates alternative stress responses such as cell-cycle arrest and apoptosis. Here we investigate the mechanism of differential expression of p21, a key mediator of p53-dependent cell-cycle arrest. We demonstrate that the transcriptional activity of the p21 promoter varies greatly in response to distinct p53-activating stimuli. Chromatin immunoprecipitation ...
Background: Acute leukemia is the prevalent malignancy in pediatrics. One of the most important causing factors of acute lymphoblastic leukemia is mutations of proto oncogenes and their chang in to oncogenes. Activation of N-RAS proto-oncogene due to point mutations plays a major role in ALL malignancy. Since there was no report on the frequency of N-RAS gene mutation in Iranian pediatric AL...
Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...
Background: Beta thalassemia is a common inherited disease, resulting from one or more of 200 different mutations in the beta-globin gene. Qazvin province has attracted migrations of several different populations due to industrialization during the past five decades. The aim of this study was to define the molecular spectrum of beta-thalassemia mutations in Qazvin province. Methods: Ethylen dia...
Amelogenin gene (AMEL-X) encodes an enamel protein called amelogenin, which plays a vital role in tooth development. Any mutations in this gene or the associated pathway lead to developmental abnormalities of the tooth. The present study aims to analyze functional missense mutations in AMEL-X genes and derive an association with amelogenesis imperfecta. The information on miss...
The autism spectrum disorders (ASD) are amongst the most heritable complex disorders. Although there have been many efforts to locate the genes associated with ASD risk, many has been remained to be disclosed about the genetics of ASD. Scrutiny's have only disclosed a small number of de novo and inherited variants significantly associated with susceptibility to ASD. These only comprise a small ...
Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...
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