نتایج جستجو برای: single nucleotide polymorphisms
تعداد نتایج: 989640 فیلتر نتایج به سال:
AKT1 (V-akt murine thymoma viral oncogene homolog 1) is a protein kinase isoform of AKT. Five single-nucleotide polymorphisms, rs3803300, rs1130214, rs3730358, rs2498799 and rs2494732, at the genomic region of AKT1 have been reported to be significantly associated with schizophrenia. We tested for the presence of these five single-nucleotide polymorphisms in a Taiwanese population by genotyping...
Single Nucleotide Polymorphisms (SNPs) are the most common source of genetic variations. There has been enormous research in the area of Biocomputing and Bioinformatics on identification and analysis of SNPs. A large number of methods have been developed for their identification ever since the importance of SNPs in understanding of diseases emerged with the completion of Human Genome Project. T...
Actins play essential roles in cellular morphogenesis. In mice, the t-actin 1 and 2 genes, which encode actin-like proteins, are specifically expressed in haploid germ cells. Both T-ACTIN 1/ACTLB and T-ACTIN 2/ACTL7A have also been cloned as orthologous genes in humans; they are present on chromosome 9q31.3 as intronless genes. Defects of germ cell-specific genes can introduce infertility witho...
Genome-wide association studies are discovering relationships between single-nucleotide polymorphisms and breast cancer, but the functions of these single-nucleotide polymorphisms are unknown and environmental exposures are likely to be important. We assessed whether breast cancer risk single-nucleotide polymorphisms interacted with ionizing radiation, a known breast carcinogen, among 859 cases...
BACKGROUND Atopic dermatitis is the most common chronic inflammatory skin disease. A complex interaction of both genetic and environmental factors is thought to contribute to the disease. AIMS To evaluate whether single nucleotide polymorphisms in the TLR2 gene c.2258C>T (R753Q) (rs5743708) and TLR2 c.-148+1614T>A (A-16934T) (rs4696480) (NM_0032643) are associated with atopic dermatitis in Tu...
The adrenergic system provides the primary control for cardiac, vascular, pulmonal, and metabolic functions. Seven of the nine adrenergic receptor subtypes display mutations that affect their function. Results from transgenic mouse models and from association studies in human populations allow to link protein dysfunctions to cardiovascular diseases or to risk for disease development. The diseas...
The dietary demand of the modern horse relies on high-cereal feeding and limited forage compared with natural grazing conditions, predisposing the horse to several important diseases. Salivary and pancreatic alpha-amylases (coded by AMY1 and AMY2 genes, respectively) play a crucial role in carbohydrate digestion in nonruminants, but little is known about these 2 genes in the horse. Aim of this ...
conclusions although previous studies have shown that a-g transition mutations in 23 srrna gene (domain v) are the main reason for the occurrence of high level macrolides resistance in b. pertussis, however, the mentioned single nucleotide polymorphisms (snps) have not been detected in our resistant strain. this is the first report of high level macrolide resistant b. pertussis, without snps in...
Aim: This study aimed to investigate the relationship between severe novel coronavirus pneumonia (NCP) and hypercoagulable conditions that predispose patients thrombosis such as prothrombin gene ( F2) rs1799963 (G20210A), factor V Leiden F5) rs6025 (G1691A) PAI-1 (rs1799768). Patients: NCP-diagnosed 62 previously healthy were enrolled for investigation of thrombophilia-related polymorphisms. Ma...
Congenital heart disease is the most common type of birth defect. The single nucleotide polymorphism in GATA4 is associated with various congenital heart disease phenotypes. In the present study, we analysed the nonsynonymous single nucleotide polymorphism of GATA4, which are involved in congenital heart disease by predicting the changes in protein structures. Total of 49 nonsynonymous single n...
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