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6 articles for “SNP”
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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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Molecular Diagnosis of Rifampicin Antibiotic Resistance in Mycobacterium Avium Subspecies Paratuberculosis Isolated from Sheep Clinical Samples
Abstract: The present study was conducted to identify parts of the rpoB gene in MAP of Indian sheep isolates. The rpoB gene (Beta sub unit of RNA polymerase) is involved in conferring the rifampicin antibiotic resistance in MAP bacteria. The resistance is due to the presence of mutations in the 81 bp variable region of the rpoB gene including C1367T and T1442C mutations identified by several workers. The study was further …
Published in Research and Reviews: A Journal of Microbiology and Virology · Vol. 12, Issue 3, 2022 · pp. 35–56 Read article
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Real Time Characterization of BA.2.86 and Its Variant (JN.1) in Senegal Using Midnight Protocol
Abstract: During the week ending August 13th, 2023, the most prevalent variant of interest (VOI), uploaded to GISAID, was the BA.2.86 variant. This SARS-CoV-2 Omicron lineage was described as the first phylogenetically distinct from the currently circulating SARS-CoV-2 Omicron XBB lineages, including EG.5.1 and HK.3. Compared to the XBB and BA.2 lineages, the BA.2.86 possesses more than 30 mutations in the Spike (S) protein, suggesting a significant potential for immune evasion. …
Published in International Journal of Vaccines · Vol. 1, Issue 2, 2024 · pp. 16–21 Read article
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Current Perspectives of Prader -Willi Syndrome: A Multisystem Approach
Abstract: Prader-Willi syndrome (PWS) is a genetic disorder with multisystem involvement, caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both. It is a complex and contiguous gene disorder which affects the multiple systems with many clinical presentations especially hypothalamic insufficiency. The clinical features are characterized by short stature position, developmental delay, cognitive …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 14, Issue 2, 2024 · pp. 42–48 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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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