20 results for “exon 1”

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Research ArticleOpen accessEvery word in the titleDesign and Evaluation of Three Pair Primers for Exon 1 Amplification of Hyaluroglucosaminidase-1 GeneUsman Sumo Friend Tambunan, Sylvia Sugito, Arli Aditya ParikesitProblem statement: Hyaluronidase is an enzyme which catalyze hydrolysis of Hyaluronan (HA). Hyaluronan is important in cell migration during embryonic development, cellular proliferation and differentiation and has a structural role in connective tissues. Hyaluronidase deficiency is correlated with mucopolysaccharidosis IX. In human, hyaluronidase is encoded by HYAL1 gene. The mutation study of HYAL1 gene was carried out by many researchers, … …OnLine Journal of Biological Sciences, Vol. 10, Issue 2 · 16 Jun 2010 · 8,702 accessesView PDF Cite

Research ArticleOpen accessEvery word in the titleMinimum Free Energy Based Evaluation of mRNAs Secondary Structures Constructed by 18 Clinically Significant Exonic Single Nucleotide Polymorphisms (SNPs) and Haplotypes of 5 Missense SNPs of RB1 GeneSarder Nasir Uddin, Apurba Majumder, Khandker Khaldun Islam et al.Clinically significant 18 Single Nucleotide Polymorphisms (SNPs) from exon regions of Retinoblastoma gene (RB1) were analyzed to find out the structural variations in mRNAs. Online bioinformatic tools i.e., Vienna RNA, RNAfold were used for secondary structure analysis of mRNAs. Predicted minimum Free Energy Change (MFE) was calculated for mRNAs structures. It has been observed that the average of predicted MFE … …American Journal of Biochemistry and Biotechnology, Vol. 11, Issue 4 · 21 Oct 2015 · 8,556 accessesView PDF Cite

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 PDF Cite

Research ArticleOpen accessEvery word in the titleGenetic 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 PDF Cite

Research ArticleOpen accessIn the abstractEvaluation of Polymorphisms at Heat Shock Protein 90 Gene by High Resolution Melting Assays for Potential Heat Tolerance among Nigerian Zebu Cattle BreedsGbolabo Onasanya, George Msalya, Aranganoor Thiruvenkadan et al.Heat Shock Protein (HSP) 90 gene is a member of HSPs sub-family that act as molecular chaperons whenever animals come under thermal stress. The genes fulfill essential roles of providing cellular protection, immune response, protein synthesis, protein folding and unfolding, protection from cellular stress, inhibitory apoptosis and adaptation. This study was designed to analyze polymorphisms of HSP 90 and to … …American Journal of Animal and Veterinary Sciences, Vol. 15, Issue 1 · 7 Mar 2020 · 7,258 accessesView PDF Cite

Research ArticleOpen accessIn the abstractGenetic Mutation Assessment of NPM1 Gene and Gene Expression of MDR1 in Iraqi Patients with Acute Myeloid LeukemiaAhmed Abduljabbar Suleiman, Ali Zaid Al-Saffar, Tamadher Abbas Rafaa, Hasan Abdulwahab JwadSince its discovery, mutations in NPM1 have been frequently associated with a large number of Acute Myeloid Leukemia (AML) patients. The vast majority of genetic changes were previously detected in exon 12, however little information report mutations in Nuclear Export Signal region (NES) of NPM1. Sequencing analysis included exon 2 and 3 for 75 Iraqi AML patients showed three SNPs, … …OnLine Journal of Biological Sciences, Vol. 18, Issue 1 · 11 Jan 2018 · 7,782 accessesView PDF Cite

Research ArticleOpen accessIn the abstractThe Arid3a Transcription Factor Rescues Natural and RAS-V12-Induced Senescence Via a Rb-Dependent PathwayChristian Schmidt, Dongkyoon Kim, Shawn Mathur et al.Primary cells are protected against oncogenic events by undergoing premature cellular senescence—an irreversible cell cycle arrest activated by mitogenic signaling as well as by overexpression of tumor suppressors, including p16INK4A, p53 and PML. In the human, downregulation of Dril1/E2F-BP1, a transcriptional regulator of E2F, promotes PML-dependent premature senescence and bypass of ant-iproliferative signaling by p19Arf/p53/p21Cip1 and p16INK4a to prevent both … …American Journal of Immunology, Vol. 13, Issue 4 · 4 Nov 2017 · 8,396 accessesView PDF Cite

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 PDF Cite

Research ArticleOpen accessIn the abstractP53 Gene: Mutation and Immunohistochemical Analysis in Patients with Invasive Ductal Carcinoma of BreastShinjini Singh, Sandeep Kumar Rajput, Mritunjai Singh et al.The p53 tumor suppressor gene is the most commonly mutated gene in cancer. In breast cancer, the presence of p53 gene alterations has been associated with worse prognosis. This study was attempted to associate p53 gene mutations with its protein expression in North Eastern Indian population. We used single-stranded conformation polymorphism to screen samples for mutations in five conserved regions, … …American Journal of Biochemistry and Biotechnology, Vol. 9, Issue 4 · 20 Dec 2013 · 7,244 accessesView PDF Cite

Research ArticleOpen accessIn the abstractCTLA-4 Gene Polymorphism in Relation to Thyroid Disorders in Patients with Chronic Hepatitis C Under Interferon Alpha TherapySalwa M. Abo El-Khair, Abd El-Hameed A. Metwali, Mohamed Abd El-Maksoud, Tarek BesheerThyroid autoimmunity and dysfunction have reported as side effects of interferon-α treatment. The CT60 and exon 1+49 A/G polymorphisms in the Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) gene have linked to susceptibility to autoimmune disease. The aim of this research was to analyze the frequencies of CTLA-4 CT60 and +49 A/G polymorphisms and evaluate both polymorphisms as indicators of thyroid disorder … …American Journal of Biochemistry and Biotechnology, Vol. 8, Issue 3 · 20 Sep 2012 · 7,582 accessesView PDF Cite