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135 results for “Genotype”

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Research ArticleOpen accessIn the abstractFrequency 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 accessIn the abstractUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDFCite
Research ArticleOpen accessIn the abstractINTERVENTION OF PHARMACOGENETIC PROFILING IN THERAPEUTICS OF KASHMIRI POPULATION, A LESSON LEARNED FROM CYP3A5*3 VARIANTAshaqullah Bhat, Aadil Wani, Rajinder Kaur et al.Human Cytochrome P450 3A, a variant of Cytochrome P-450- dependent monooxygenases is a major drug metabolizing enzyme. CYP3A has evolved to catalyze the biotransformation of its substrate. A great deal of inter-individual variation in expression levels exists for CYP3A5 gene. The common polymorphism in CYP3A5 that induces a cryptic splice site has been shown to cause a significant reduction in … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 10 Jul 2014 · 7,215 accessesView PDFCite
Research ArticleOpen accessIn the abstractLEUKOTRIENE C4 SYNTHASE AND LEUKOTRIENE RECEPTOR-1 GENES POLYMORPHISM AMONG ATOPIC ASTHMATIC PATIENTSHeba M. Kadry, Amal H. Atta, Mostafa K. Sultan, Nagwa A. El-BazAsthma is a complex polygenic disease in which Cysteinyl Leukotrienes (Cys-LTs) are a potential risk factors causing airway inflammation and remodeling, which are characteristics of asthma. The polymorphisms in the leukotriene C4 synthase -444A/C and cysteinyl leukotriene receptor1 927 T/C genes has been implicated in susceptibility to asthma. The objective of this study was to analyse two different polymorphisms, LTC4S-444 … …American Journal of Immunology, Vol. 10, Issue 2 · 5 May 2014 · 7,379 accessesView PDFCite
Research ArticleOpen accessIn the abstractGENE IMPRINTING: ENGRAVING THE PATHOGENESIS OF HERIDETARY DISEASESSandeep Satapathy, Roshan Kumar Singh, Harikrishnan RajendranGene imprinting has conduited the scope of our understanding of phenotypic expression and its corelation with constituent genotype. It is an epigenetic process that involves DNA methylation and histone modulation to attain monoallelic gene expression without altering the genetic sequences. A distinctive model of non-mendelian genetics, imprinting extends the control over expression of traits and selection of the allele that … …American Journal of Immunology, Vol. 10, Issue 1 · 12 Feb 2014 · 7,682 accessesView PDFCite
Research ArticleOpen accessIn the abstractEffects of Some Heavy Metals in Some Morpho-Physiological Parameters in Maize SeedlingsSali Aliu, Bekim Gashi, Imer Rusinovci et al.Nowadays the heavy-metal pollution of the soil is causing ever greater problems, exacerbated by the fact that the heavy metals accumulated in plants may, either directly or indirectly, find their way into animals and human beings. Maize is one of the world’s most important crops, ranking third after wheat and rice, so the changes induced by one of the most … …American Journal of Biochemistry and Biotechnology, Vol. 9, Issue 1 · 18 Mar 2013 · 8,430 accessesView PDFCite
Research ArticleOpen accessIn the abstractG-2548A Leptin Promoter and Q223R Leptin Receptor Polymorphisms in Obese Mexican SubjectsP. Carrillo-Vazquez Jonathan, Lopez-Alcantar Jeronimo, Chimal-Vega Brenda et al.Leptin interaction with its receptor in the hypothalamus stimulates a specific signaling cascade that results in the synthesis of anorexigenic and orexigenic peptides in order to regulate food intake and energy expenditure. Many polymorphisms in leptin (lep) and leptin receptor (lepr) genes have been associated with body weight. In particular, G-2548A in the lep promoter and Q223R in lepr variants … …American Journal of Agricultural and Biological Sciences, Vol. 8, Issue 1 · 12 Feb 2013 · 8,641 accessesView PDFCite
Research ArticleOpen accessIn the abstractBovine Viral Diarrhea-an Emerging Disease in Camelids a ReviewU. WerneryBovine Viral Diarrhea (BVD) is an emerging disease in both New World Camelids (NWCs) and Old World Camelids (OWCs). The virus has been isolated from NWCs particularly in alpacas and dromedaries, but there are no reports of BVD in Bactrians. BVD is an important infectious disease. Both sub-genotypes 1a, 1b and genotype 2 have been isolated from NWCs but the … …Current Research in Virology, Vol. 1, Issue 1 · 30 Aug 2012 · 12,849 accessesView PDFCite
Research ArticleOpen accessIn the abstractStudy 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
Research ArticleOpen accessIn the abstractGenetic Polymorphism Exon 9-11 at the Leptin Gene Receptor in Breeder Hens of Mazandaran Native FowlsHossein Ali Abbasi, Shahabodin Gharavysi, Rohullah AbdullahpourProblem statement: Leptin a 16 kD protein synthesized by white adipose tissue and involved in regulation of feed intake, energy balance, fertility and immune function. In order to evaluate the leptin gene receptor polymorphism, we have used a Restriction Fragment Length Polymorphism (RFLP) method. Approach: Blood samples were collected from randomly chosen 100 native fowls breeding station of Mazandaran. The … …American Journal of Animal and Veterinary Sciences, Vol. 6, Issue 2 · 17 Sep 2011 · 7,700 accessesView PDFCite