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59 articles for “Polymorphisms”

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Research ArticleOpen accessEvery word in the titleThe Relevance of Bioinformatic Tools in the Study of Polymorphisms of the B4GALNT2 Gene and its Association with CancerEddaikra Atika, Haddouche Hayet, Touil-Boukoffa ChafiaThe human gene B4GALNT2 encodes an enzyme (β1,4-N-acetylgalactosaminyltransferase II) that controls the expression of the blood group Sda carbohydrate’s antigen. This gene is located in position 17q21,32 and consists of 11 exons. The characterization and understanding of genetic variation is a real challenge in human genetics, both for healthy individuals and diseased ones. The in silico study of the B4GALNT2 … …Current Research in Bioinformatics, Vol. 8, Issue 1 · 27 Feb 2020 · 6,767 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleThe Role of SLC22A4 Gene Polymorphisms in the Response to Salbutamol in Asthmatic PatientsAlshymaa A. Ahmed, Nora M. Said, Alia A. El Shahaway, Nagwan A. IsmailResponse to Bronchodilators is influenced by many factors including genetics. To evaluate the influence of SLC22A4 gene polymorphisms (rs3792876 and rs2073838) on the response to inhaled salbutamol in asthmatic patients, bronchodilator response was assessed in 180 bronchial asthma patients via measuring changes of the Forced Expiratory Volume in one second (FEV1) after the administration of inhaled salbutamol and genotyping for … …American Journal of Immunology, Vol. 15, Issue 1 · 30 Jun 2019 · 7,470 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleFrequency of Single Nucleotide Polymorphisms of the SLCO1B1 Gene in Slavic Population of Central EuropeMichaela Mikulová, Veronika Kramarova, Ján ChandogaThe organic anion transporting polypeptide 1B1 (encoded by SLCO1B1 gene) is involved in the active cellular influx of diverse endogenous compounds and several drugs, such as HMG-CoA reductase inhibitors (statins). Two common polymorphisms c.388A>G and c.521T>C in SLCO1B1 alter transport activity of this transporter and play an important role in the pharmaceutical response to many drugs. The aim of our … …OnLine Journal of Biological Sciences, Vol. 16, Issue 4 · 11 Dec 2016 · 7,308 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleStudy the Impact of T-helper 1 Cytokine (TNF-α) Polymorphisms on Susceptibility/Resistance to Brucellosis in Makkah RegionAlaa B. Ismael, Adil Mergani, Salama A-H Mostafa, Abdelmoneim M. SalimPolymorphisms in the regulatory regions of cytokine genes may not only increase susceptibility to some infectious diseases but also affect the course and prognosis of the disease. TNF-α is considered an important Th1 cytokines that plays critical roles in control of Brucella infection and in macrophage activation. In this study, we are going to analyze the relationship of two polymorphisms … …American Journal of Infectious Diseases, Vol. 12, Issue 3 · 9 Aug 2016 · 7,119 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleTen Bioinformatics Tools for Single Nucleotide Polymorphisms DetectionMahin Ghorbani, Hamed KarimiSingle Nucleotide Polymorphisms (SNPs) as unique genetic variations are widely used as biomarkers for drug designing and development for individualized therapy. SNP genotyping techniques such as SBE with MS detection, SBE with fluorescence intensity detection, The FP-TDI, Pyrosequencing and The TaqMan 5’ nuclease assay are low-speed, time consuming and very expensive. To overcome such disadvantages, bioinformatics tools are emerged as … …Current Research in Bioinformatics, Vol. 3, Issue 2 · 10 Apr 2015 · 17,728 accessesView PDFCite
Research ArticleOpen accessEvery word in the titlePolymorphisms in the 5’ Flanking Region and First Exon of Insulin-Like Growth Factor 1 Gene in Southern Populations of BuffaloSaber Khederzadeh, Ahmad YazdanpanahThe Insulin-like Growth Factor 1 (IGF-1) system plays a critical endocrine role controlling nutrient metabolism in animals and it is a group of structurally-related polypeptides that regulate the growth of many types of mammalian cells. In liver, IGF-1 is dynamically regulated by lactation and energy balance. Less is known about the regulation of IGF-1 and IGF-binding protein mRNA in reproductive … …American Journal of Biochemistry and Biotechnology, Vol. 9, Issue 3 · 21 Sep 2013 · 6,846 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleStudy on Follicle Stimulating Hormone Receptor Gene Polymorphisms in South Indian Women with Polycystic Ovarian SyndromeHimavanth Reddy Kambalachenu, Solomon Franklin Durairaj Paul, Sanjeeva Reddy Nellepalli, Perumal VenkatachalamPolycystic Ovarian Syndrome (PCOS) is the most common endocrine disorder of women in their reproductive ages. Though PCOS is a complex, heterogeneous disorder, but there is strong evidence for its genetic predisposition. The aim was to study the association of Follicle Stimulating Hormone Receptor (FSHR) gene polymorphisms rs1394205, rs6165 and rs6166 in south Indian women with PCOS. The present case … …Current Research in Medicine, Vol. 4, Issue 2 · 4 Sep 2013 · 12,695 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleComparative Analysis of UGT1A9 Genetic Polymorphisms between Chinese Han and Tibetan PopulationsWei Yan, Jian Cui, Yuewen Wang et al.Although various polymorphisms have been identified in the UGT1A9 gene in the main sorts of ethnic groups in the world, no investigations have been focused on the Chinese Tibetan populations and the comparison between Chinese Tibetan and Han populations to date. This study was designed to systematically compare genetic differences between the two populations. We investigated the functional regions of … …Current Research in Medicine, Vol. 3, Issue 2 · 23 Aug 2012 · 7,641 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleRole of Angiotensin-Converting Enzyme and Vitamin D Receptor Gene Polymorphisms in Cancer Anorexia-Cachexia SyndromeAriele Fabris, Paolo Biagioni, Tiziana Punzi et al.The ubiquitin-proteasome pathway is a crucial connection between aberrant immune system activation, systemic inflammation and Cancer Anorexia-Cachexia Syndrome (CACS), a syndrome that culminates in hyper-activation of the ubiquitin-proteasome pathway. Angiotensin directly up-regulates this pathway, while vitamin D down-regulates it indirectly through the insulin-like growth factor-1 pathway. We investigated the genetic predisposition towards CACS in a cancer population, examining Insertion/Deletion (I/D) … …American Journal of Immunology, Vol. 8, Issue 3 · 2 Aug 2012 · 9,560 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleStudy and Identification of Insulin-Like Growth Factor-I Gene Polymorphisms in Zel Sheep PopulationSeyed Mohsen Kazemi, Cyrus Amirinia, Hossein Emrani, Shahaboddin GharahveysiProblem statement: The IGFs play an important role in regulating somatic growth according to nutritional conditions. Polymorphisms of IGF gene are reported to be significantly associated with many traits. Approach: In these study 142 samples of DNA from Zel sheep were used for detecting the polymorphisms of promoter region of the Insulin-like Growth Factor-1 (IGF-1) gene. Therefore DNA extracted from … …American Journal of Animal and Veterinary Sciences, Vol. 6, Issue 4 · 13 Jan 2012 · 7,739 accessesView PDFCite