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109 results for “mutation”
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Research ArticleOpen accessEvery word in the titleCASE REPORT OF A PATIENT WITH RARE P.ARG136CYS (APOE2*) MUTATION IN APOLIPOPROTEIN E GENEJana Lisyova, Jan Chandoga, Stanislav Oravec et al.Apolipoprotein E (apoE) is a polymorphic glycoprotein associated with plasma lipoproteins and plays an essential role in the metabolism and clearance of plasma lipids. ApoE can represent the major genetic risk factor in development of premature atherosclerosis, coronary heart disease and late-onset familial and sporadic Alzheimer’s Disease (AD). We present a case report of a 51-year old male with suspected … …OnLine Journal of Biological Sciences, Vol. 14, Issue 1 · 9 Jan 2014 · 7,295 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleP53 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 PDFCite
Research ArticleOpen accessEvery word in the titleIdentification of Novel Mutations of AMH Gene in Iraqi Women with Premature Ovarian FailureFarah Amer Abed, Raya E. Maroof, Ulfat Mohammed Ali Al-NakkashAn over all of thirty females experiencing idiopathic POF and thirty controls have been studied and among them only six patients and four control were sent to sequence. The AMH gene fragments AMH1, AMH2 and AMH5 generates 530 bp, 288 bp and 1080 bp respectively were amplified. Fragments were sequenced and the results show six out of eight observed SNPs … …OnLine Journal of Biological Sciences, Vol. 18, Issue 4 · 11 Dec 2018 · 7,250 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleGenetic 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 PDFCite
Research ArticleOpen accessEvery word in the titleUNUSUAL 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 accessEvery word in the titleMycobacterium tuberculosis Complex Mutations in Drug Resistant Clinical Isolates from Southwest MexicoMartínez-Cruz Perla Mónica, Nakamura-López Yuko, Quintero-Hernández Verónica et al.Mutations in target genes have been described in Mycobacterium tuberculosis Complex (MTBc) drug resistant isolates worldwide. In Mexico, not enough information has been reported in this concern. The aim of this study was to characterize mutations related to resistance to first line drugs in MTBc isolates from Oaxaca, Mexico. MTBc isolates were identified in clinical samples from Tuberculosis (TB) patients. … …American Journal of Infectious Diseases, Vol. 17, Issue 4 · 28 Oct 2021 · 6,667 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleAssessment of Site Specific Mutational Effect on Transcription Initiation at Escherichia coli PromoterS. Kannan, M. Krishnan, S. Sundarraj et al.Problem statement: It is widely accepted thought that the weak promoters control the RNA synthesis and play regulatory role in complex genetic networks in bacterial system. An experiment had been designed to address whether mutations in the -16/-17 region affect the rate of transcription at an activator-independent promoter in E. coli or not? Approach: The aim of this study was … …American Journal of Biochemistry and Biotechnology, Vol. 5, Issue 2 · 30 Jun 2009 · 7,555 accessesView PDFCite
Research ArticleOpen accessEvery word in the titleMolecular Analysis of KRAS Mutation Associated with Colorectal Cancer in Iraqi PatientsRehab Subhi Ramadhan, Aola Sabah Ali, Rebah Najah AlgafariThe role of KRAS gene was investigated in manifestation of colorectal cancer in Iraqi patients. A total 40 blood samples were collected during October 2016 to January 2017 from AL-Amal Hospital in Baghdad and 20 blood samples from healthy subjects served as control. Blood samples were collected from subjects of 40-70 years old for both patients and control. The study … …American Journal of Biochemistry and Biotechnology, Vol. 14, Issue 1 · 3 Mar 2018 · 9,024 accessesView PDFCite
Research ArticleOpen accessIn the keywordsAlpha Thalassemia Carrier Detection a Diagnostic ApproachH. R. Samruddhi, Anupama Hegde, Harsha Prasada L et al.Alpha-thalassemia is one of the most common single-gene disorders, and its carrier state often remains undetected due to nonspecific hematological findings. This study aimed to identify alpha-thalassemia carrier status among people being investigated for hemoglobinopathy in a tertiary care setting. A cross-sectional laboratory-based study was conducted from January 2023 to January 2024. Hemoglobin variant analysis reports by High Performance Liquid … …OnLine Journal of Biological Sciences, Vol. 26, Issue 3 · 22 Sep 2026 · 481 accessesView PDFCite
Research ArticleOpen accessIn the keywordsAn Adaptive Machine Learning Algorithm for Resilient Higher-Order Mutant GenerationSubhasish Mohanty, Jyotirmaya Mishra, Sudhir Kumar Mohapatra et al.In the field of software engineering, ensuring the reliability androbustness of software is paramount, and software testing plays a criticalrole in this process. Mutation testing, a fault-based technique, evaluates theeffectiveness of test suites by introducing artificial defects, known asmutants, into programs. This research presents a novel method forgenerating higher-order mutants (HOMs) using the Chemical ReactionOptimization (CRO) algorithm, which enhances the … …Journal of Computer Science, Vol. 21, Issue 5 · 20 May 2025 · 8,238 accessesView PDFCite