نتایج جستجو برای: single nucleotide
تعداد نتایج: 949916 فیلتر نتایج به سال:
Background and purpose: Hemophilia is a hereditary X-linked disorder. Females are carriers and males have the disorder. Hemophilia A is caused by deficiency in the production of factor VIII. In some hemophilia patients, inhibitors including IgG1 and IgG4 antibodies are expressed against this factor. These inhibitors interact with factor VIII and suppress its function. The current study aimed at...
Background and purpose: Cytokines are a group of endogenous proteins which play an influential role in regulating the inflammatory responses and defeating infectious diseases. Elevated levels of proinflammatory cytokines and their receptors are usually observed in association with immune responses against viral infections such as hepatitis B virus (HBV) infection. IL 12 and its receptor play an...
Background: Type 2 diabetes is a metabolic disorder characterized by high blood sugar levels that can damage nerves. Many organs are affected ،especially the foot that leading to loss of sensation. These factors make favorable conditions for the development of diabetic foot ulcers. Polymorphisms (Thr399Ile) of Toll Like Receptor4 (TLR4) gene due to malfunction of TLR4 protein which plays an imp...
Background: DNA markers are inevitable tools of human identification in forensic science. Single Nucleotide Polymorphisms (SNPs) are one category of these markers which is concerned to use especially in the case of degraded DNA because of their short amplicons. Objectives: Detection of highly informative SNPs by the criteria is the essential step to devel...
Genotype imputation from low-density to high-density (SNP) chips is an important step before applying genomic selection, because denser chips can provide more reliable genomic predictions. In the current research, the accuracy of genotype imputation from low and moderate-density panels (5K and 50K) to high-density panels in the purebred and crossbred populations was assessed. The simulated popu...
Background: Tssk2, a member of the testis specific serine/threonine kinase (TSSK) family, is expressed predominantly in the testis and crucial for the formation and function of the sperm cells in mouse. Targeted deletion of Tssk1 and 2 in male chimeric mice caused infertility due to haploinsufficiency of the genes. Therefore it is reasonable to postulate that mutations in its human homologue TS...
Purpose: Estrogen as a crucial hormone during pregnancy acts by two types of receptors. Estrogen receptor alpha, expressed by estrogen receptor 1 (ESR1) gene, is more abundant and exists in all human reproductive systems. Association of ESR1 gene polymorphism has been shown in some reproductive fields such as spontaneous abortion, endometriosis-related infertility and in vitro fertili...
Background: Insulin resistance and progressive β-cells failure are the key factors in type 2 diabetes mellitus (T2DM) pathogenesis. Many studies support a primary role of RBP4 in insulin resistance and suggest that genetic variations which alter the expression level of RBP4 might influence the risk of T2DM and its complications. Diabetic foot is one of the main complications of diabetes le...
Background: CDKN2A, encoding two important tumor suppressor proteins p16 and p14, is a tumor suppressor gene. Mutations in this gene and subsequently the defect in p16 and p14 proteins lead to the downregulation of RB1/p53 and cancer malignancy. To identify the structural and functional effects of mutations, various powerful bioinformatics tools are available. The aim of this study is the ident...
Microarrays are widely used to evaluate gene expression at the genome scale. However, all too often the importance of data analysis at the level of the individual probe is overlooked. This is a particular problem when trying to detect differences in gene expression levels among genetically unique animals, across inbred animal strains, or among genetically modified animals. Of particular concern...
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