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13 articles for “Single nucleotide polymorphism”
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Comprehensive In silico Analysis of Single Nucleotide Polymorphisms (SNPs) in Human BDNF Gene
Abstract: Since a number of single nucleotide polymorphisms (SNPs) are associated with the BDNF gene mutations involved in different diseases. Hence, it is important to find out the probable functional SNPs before planning a larger population study. So, to look out for the functional nsSNPs (non-synonymous single nucleotide polymorphisms) in BDNF gene, existing data present in the dbSNP database and different bioinformatics tools like SIFT, PolyPhen, nsSNPAnalyzer, F-SNP, I-mutant, Pymol were …
Published in Research and Reviews : A Journal of Life Sciences · Vol. 8, Issue 3, 2018 · pp. 128–139 Read article
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Single Nucleotide Polymorphism in CYP17 and CYP19 in Breast Cancer
Abstract: A single T > C change at the 5’ promoter region of the CYP17 and CYP19 genes are reported to be associated with increased risk of breast cancer. This study evaluates the influence of genetic polymorphism of CYP17 and CYP19 on breast cancer susceptibility. Ten patients with histopathologically confirmed breast cancer and 30 age-matched controls were included in study. A polymerase chain reaction – single nucleotide polymorphism (PCR-SSCP) method was …
Published in Research & Reviews: A Journal of Drug Design & Discovery · Vol. 1, Issue 2, 2014 · pp. 8–11 Read article
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Framework for High-Throughput Identification of Genomic Variants in Buffaloes
Abstract: The genetic improvement in livestock can be achieved through, i) selection and/through, ii) cross breeding. Conventional selection requires long time span and accurate performance records from the fields. The genetic improvement of Indian buffalo through cross breeding does not have much scope, as Indian buffaloes are genetically superior as compared to other foreign buffalo breeds. Thus selection based at molecular level will help us in identification of animals with desirable …
Published in Research and Reviews : A Journal of Biotechnology · Vol. 5, Issue 1, 2015 · pp. 5–17 Read article
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Genomic Medicine Revolutionizes Heart Care: A New Standard of Practice
Abstract: The integration of genomic and precision medicine into cardiovascular healthcare represents a transformative advancement in addressing the global burden of cardiovascular diseases (CVDs). Precision medicine leverages genomic, proteomic, and metabolomic data to provide personalized care, optimizing treatment outcomes while minimizing adverse effects. Over the past decade, extensive research has highlighted its potential to revolutionize the management of major CVDs, including myocardial infarction, hypertension, and heart failure, which significantly contribute to …
Published in International Journal of Tropical Medicines · Vol. 2, Issue 2, 2025 · pp. 30–37 Read article
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The Era of Pharmacology Toward Pharmacogenomics
Abstract: In both Modern Laboratory medicine as well medical science both the Pharmacogenomics is fast, emerging, outcome driven approach which is generally termed as precision medicine. Understanding the importance of gene-drug association and clinical implementation, effect of drug choices over the clinical subjects are kind of need of hour as it is proof of concept for evidence driven therapeutic approach. Also, in research prospective the genome wide association studies (GWAS) which …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 12, Issue 2, 2022 · pp. 33–38 Read article
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Pharmacogenomics in Anesthesia: Individualized Drug Responses
Abstract: Pharmacogenomics is the study of how a person’s genes influence how they react to medications. Pharmacology, the study of medications, and genomics, the examination of genes and their functions, merge in this field to develop safe, effective drugs that can be prescribed based on an individual’s genetic makeup. Pharmacogenomics examines how an individual’s unique genetic makeup can influence their responses to certain drugs. In anesthesia, where individual responses to pain …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 15, Issue 1, 2025 · pp. 83–95 Read article
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Relation of p53 Codon 72 Polymorphism with Breast Cancer Risk in DPR Korea Women
Abstract: Background: The p53 codon 72 polymorphism (rs1042522) is a single-nucleotide polymorphism (SNP) in exon 4 of p53 gene, resulting in the expression of either arginine (Arg), which encodes CGC, or proline (Pro), which encodes CCC. The p53 codon 72 polymorphism have been implicated as a risk factor for various cancers including breast cancer. We have investigated the association of the Arg/Pro polymorphism at codon 72 of p53 gene with breast …
Published in Research & Reviews: A Journal of Bioinformatics · Vol. 7, Issue 1, 2020 · pp. 23–30 Read article
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Molecular Mechanisms of Drug Metabolism in Anesthesia: A Pharmacogenomic Perspective
Abstract: Pharmacogenomics studies how a person’s genetic profile affects their reaction to drugs, which is vital in anesthesia. Anesthetic pharmacology depends significantly on drug metabolism, which involves complex biochemical processes that manage the absorption, distribution, metabolism, and excretion (ADME) of anesthetic drugs. The cytochrome P450 (CYP) enzyme family plays a critical role in the metabolism of various anesthetic drugs, with genetic polymorphisms leading to inter-individual variability in drug responses. Specific CYP …
Published in Research & Reviews: A Journal of Drug Formulation, Development and Production · Vol. 12, Issue 1, 2025 · pp. 90–95 Read article
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Review on Advanced Molecular Diagnostic Tools and Their Applications
Abstract: Although the diagnosis of diseases is still primarily based on conventional methods (staining, culture, biochemical analysis), a series of advanced molecular diagnostic tools are increasingly introduced and incorporated in the workflow of clinical laboratories worldwide. These tools, such as polymerase chain reaction, northern blotting, restriction length polymorphism, flow cytometry, southern blotting, fluorescent in situ hybridization, agarose gel electrophoresis and pyrosequencing that are based on either the properties of nucleic acids …
Published in Research and Reviews : A Journal of Life Sciences · Vol. 3, Issue 3, 2013 · pp. 21–33 Read article
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Targeting PTPN22 in Arthritis: Molecular Docking and Pharmacokinetic Evaluation of Artemisia vestita Compounds
Abstract: Rheumatoid arthritis (RA) is a long-term autoimmune condition characterized by inflammation of the synovial membrane, commonly resulting in swelling, pain, stiffness, and overall fatigue. Protein tyrosine phosphatase non-receptor type 22 (PTPN22) has been identified as a risk factor linked to various autoimmune diseases, including RA. In the PTPN22 gene, two missense Single nucleotide polymorphisms (SNPs) are associated with autoimmune conditions. The R620W (C1858T, rs247660) variant in exon 14 has been …
Published in International Journal of Bioinformatics and Computational Biology · Vol. 3, Issue 1, 2025 · pp. 20–31 Read article
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In silico Analysis of nsSNPs in the Human ACTN4 Gene associated with a Steroid-Resistant Nephrotic Syndrome
Abstract: The main motive of this study is to discover nsSNPs of ACTN4 gene through various insilico views. ACTN4 is one of the proteins that play a leading role in cellular pathways by altering cytoskeletal behaviour associated with steroid-resistant nephrotic syndrome. Data of ACTN4 was collected from NCBI dbSNP and Uniport KB and further used to explore adverse outcome using SIFT, PolyPhen, PROVEAN and SNAP2.Out of 11 nsSNPs selected in this …
Published in Research and Reviews: A Journal of Health Professions · Vol. 8, Issue 3, 2018 · pp. 43s–52s Read article
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Efficient Identification of Complex Diseases Through Epistasis Computational Models: A Review
Abstract: AbstractGenome-Wide Association Studies (GWAS) identify and characterize the genes that are associated with human diseases. One of the significant ongoing researches in GWAS is to identify the disease susceptible genes through Epistasis. The gene that masks the effects of other genes is called Epistasis. The gene interacts with another gene is known as epistatic or genetic interactions (GGIs). GWAS identifies the genetic variants of Single Nucleotide Polymorphism and also the …
Published in Research & Reviews: A Journal of Bioinformatics · Vol. 7, Issue 2, 2020 · pp. 21–32 Read article
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Pathogenesis, Treatment and Molecular Mechanisms for Development of Multidrug-resistant (MDR) TB as well as Identification of MDR Mycobacterium Tuberculosis
Abstract: Normal 0 false false false EN-US X-NONE X-NONE Tuberculosis (TB) is a medical, social, and economic disaster of huge magnitude in the world. Prevalence of TB has increased due to poverty, population growth, migration and a high number of TB cases in HIV positive individuals. High prevalence rate of M. tuberculosis strains with multidrug resistance (MDR) is a serious problem as global emergency. Strains of M. tuberculosis resistant to both …
Published in Research and Reviews: A Journal of Microbiology and Virology · Vol. 3, Issue 1, 2013 · pp. 16–38 Read article