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33 articles for “genetic mutation”
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Pharmacogenomics in Anesthesia: Case Studies and Clinical Applications for Personalized Care
Abstract: Pharmacogenomics, the study of how genetic variability influences individual responses to medications, is transforming anesthetic practice by enabling personalized care. This case study collection explores the integration of pharmacogenomic insights into anesthesia management, highlighting its impact on safety, efficacy, and patient outcomes. Adverse reactions to anesthetics often arise from genetic polymorphisms that alter drug metabolism or sensitivity. For instance, patients with RYR1 mutations are susceptible to malignant hyperthermia (MH) when …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 15, Issue 2, 2025 · pp. 85–91 Read article
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A Decade of Viral Evolution (2015–2025): Emergence, Mutations, and Implications for Global Health
Abstract: Over the past decade (2015-2025), viral evolution has profoundly reshaped the global health landscape, challenging healthcare systems, diagnostic tools, therapeutic strategies, and vaccine efficacy. This review comprehensively analyzes the evolutionary trajectories of major human and zoonotic viruses, with a focus on pandemic-prone, drug-resistant, and emerging pathogens. Viral evolution is driven by diverse molecular mechanisms including high mutation rates, recombination, reassortment, host immune pressure, and antiviral interventions, leading to genetic diversification, …
Published in International Journal of Vaccines · Vol. 2, Issue 2, 2025 · pp. 31–40 Read article
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CRISPR-Cas9: Revolutionizing the Genetic Frontier
Abstract: The rapid development of CRISPR/CRISPR-associated enzyme (Cas) technology has enabled truly customised treatment of human genetic disorders, paving the way for recent developments in the field of gene therapy. Because CRISPR/Cas can accurately target and edit individual genes within a genome, it has established itself as a formidable tool for genetic manipulation. CRISPR/Cas9 technology allows for precise editing of specific DNA sequences in an organism's genome. This method uses three …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 2, 2025 Read article
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Next Generation Sequencing (NGS) in Personalized Medicine: Emphasizing Public Health Beyond Reality
Abstract: NGS is a modern technology that allows researchers to quickly sequence large amounts of DNA or RNA, it is also known as massively parallel sequencing or deep sequencing. NGS has revolutionized genomic research and biological sciences by its speed, scale, accuracy, ultra-high throughput, and cost. NGS replaced the conventional sequencing method. A novel idea in healthcare is precision medicine, which involves adjusting medical care to each patient’s unique traits and …
Published in Recent Trends in Infectious Diseases · Vol. 2, Issue 1, 2025 · pp. 1–17 Read article
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Drug Repurposing of Anticancer Agents JP-8g and REDX05358 Against the Target Protein Plectin 1a in Epidemolysis Bullosa Simplex with Muscular Dystrophy (EBS-MD)
Abstract: Epidermolysis Bullosa Simplex with Muscle Dystrophy is a genetic disease affecting the skin and muscles which can be seen at birth or start at adulthood due to the mutation in the protein Plectin 1a (PLEC gene) causing skin blisters and muscle weakness. This protein is seen in sarcolemma, Z disks in skeletal muscles, hemidesmosomes in skin and cardiac muscles giving stability to cytoskeleton, playing a crucial role in neuromuscular transmission …
Published in International Journal of Cell Biology and Cellular Functions · Vol. 3, Issue 2, 2025 · pp. 22–34 Read article
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An Overview of Gene Therapy
Abstract: Gene therapy is a revolutionary technique in medical science that seeks to cure or stop illnesses by means of introducing, altering, or quieting genes inside a patient's cells. Advancements in molecular biology, genetics, and biotechnology have propelled this field forward markedly changed over the last few decades. The underlying idea of gene therapy is to introduce genetic material into target cells via viral or non-viral vectors to rectify faulty genes, …
Published in Research and Reviews: A Journal of Pharmaceutical Science · Vol. 16, Issue 3, 2025 · pp. 89–105 Read article
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Stretching Boundaries: A Comprehensive Review of Ehlers-Danlos Syndrome and its Subtypes
Abstract: The Ehlers-Danlos syndromes (EDS) encompass 13 inheritable disorders affecting connective tissue. These conditions arise from genetic alterations impacting the structure of connective tissue. Every variant of Ehlers-Danlos syndrome (EDS) exhibits distinct features and has specific diagnostic criteria. While certain traits such as joint hypermobility, skin hyperextensibility, and tissue fragility are common across all types of EDS. The range of clinical presentations spans from minor skin and joint looseness to severe …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 1, 2024 · pp. 44–57 Read article
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Breast Cancer: Susceptible Genes and Significant Risk Factors
Abstract: Breast cancer is the most common malignancy affecting women globally. In 2012, around 1.67 million new cases were reported worldwide. With the increase in life expectancy in developed countries, the incidence of breast cancer among older adults has risen significantly. In 2017, an estimated 252,710 new cases of invasive breast cancer were recorded, along with 6,341 cases of breast cancer in situ in the USA. About 24% of all breast …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 13, Issue 2, 2024 · pp. 36–43 Read article
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Progeria Syndrome Unveiled: A Scientific Odyssey into Premature Aging Mechanisms and Therapeutic Frontiers
Abstract: Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and fatal genetic disorder in childhood, exhibiting features akin to premature aging. Despite normal appearances in infancy, affected children face accelerated aging with distinct facial characteristics, including micrognathia, dental malformations, lower body weight, early hair loss, decreased joint mobility, lipodystrophy, etc. The cause of HGPS is a point mutation that occurs at the exon 11 of the LMNA gene which normally …
Published in Research and Reviews: A Journal of Health Professions · Vol. 14, Issue 2, 2024 · pp. 52–68 Read article
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An Overview of Fanconi Anemia: A Genetic Disorder
Abstract: Fanconi Anemia (FA) is a rare genetic disorder caused by DNA repair defects due to pathogenic variants in one of 21 genes. It is the primary cause of inherited bone marrow failure, marked by pancytopenia. Clinically, Fanconi Anemia (FA) is associated with congenital malformations in multiple systems, resulting in progressive bone marrow failure and heightened cancer risk, especially in the urogenital region and the head and neck. There are approximately …
Published in International Journal of Oncological Nursing and Practices · Vol. 2, Issue 2, 2024 · pp. 19–25 Read article
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Precision Medicine for Neurofibromatosis Type 1: Progress and Prospects in Drug Discovery
Abstract: Objective: The development of neurofibromas, café-au-lait spots, and other neurological problems are the hallmarks of neurofibromatosis type 1 (NF1), a hereditary disorder. The dearth of efficacious pharmaceutical therapies underscores the need for novel therapeutic approaches, even in the face of clinical variability. Through very accurate prediction of the binding affinity of possible therapeutic drugs with the target protein, the computational technique known as “molecular docking” has become a potent tool …
Published in International Journal of Bioinformatics and Computational Biology · Vol. 2, Issue 1, 2024 · pp. 01–15 Read article
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Artificial Intelligence in Microbiological Research: Methods, Applications and Implications
Abstract: Artificial Intelligence (AI) is revolutionising microbiological research by enabling the rapid analysis of complex biological data and improving the accuracy, efficiency, and reliability of scientific investigations. Recent advances in machine learning, deep learning, and bioinformatics have transformed AI into a powerful tool for studying microorganisms, their genetic composition, evolutionary patterns, and interactions with hosts and the environment. AI-driven computational models can process large and complex datasets far more efficiently than …
Published in Research and Reviews: A Journal of Microbiology and Virology · Vol. 16, Issue 2, 2026 Read article
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Harnessing Bacteria for Next-Generation Data Storage Technologies – A Review
Abstract: The exponential increase in global digital information has created a pressing need for storage technologies that are more durable, compact, and sustainable than conventional electronic media. While hard drives, solid-state drives, and cloud-based systems have transformed information management, they face severe limitations related to storage density, energy consumption, maintenance costs, and long-term preservation. Researchers have, therefore, begun exploring biological systems as alternative information storage platforms. Among these, bacteria have emerged …
Published in International Journal of Molecular Biotechnological Research · Vol. 4, Issue 2, 2026 Read article