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49 articles for “Gene mutations”
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Ovarian Cancer: Understanding Risk Factors, Diagnosis, and Advances in Treatment
Abstract: Ovarian cancer is a leading cause of cancer-related mortality among women worldwide, often diagnosed at advanced stages due to its subtle early symptoms. Ovarian cancer develops due to a combination of factors, including genetics, environmental influences, and hormonal changes. This article explores the pathophysiology of ovarian cancer, highlighting the genetic mutations, such as BRCA1 and BRCA2, that contribute to its development. It also discusses current diagnostic methods, including imaging techniques …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 14, Issue 2, 2025 Read article
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Non-Small Cell Lung Cancer: Types, Pathogenesis, Diagnosis, and Novel Therapeutic Strategies
Abstract: Non-small cell lung cancer (NSCLC) is the most prevalent type of lung cancer, accounting for over 85% of all cases globally. It remains one of the primary causes of cancer-related death due to its rapid progression, few early symptoms, and late detection. The three main forms of non-small cell lung cancer (NSCLC) are adenocarcinoma, squamous cell carcinoma, and giant cell carcinoma; each has a unique histology, prognosis, and response to …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 16, Issue 2, 2026 Read article
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Cancer Chronicles: An Overview of its Origins, Types, Treatment, and Prevention
Abstract: Cancer is a multifaceted illness characterized by abnormal cell growth and dissemination throughout the body. Its onset usually arises from a mix of genetic mutations and environmental factors. There exist more than 100 distinct forms of cancer, each possessing unique attributes, risk elements, and therapeutic alternatives. Cancer is a pervasive health challenge that knows no boundaries of age, race, or background, continuing to rank among the foremost causes of mortality …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 13, Issue 2, 2024 · pp. 36–42 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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A Narrative Review on Osteogenesis Imperfecta and Its Management
Abstract: Osteogenesis imperfecta (OI), sometimes referred to as brittle bone disease, is a heterogeneous illness characterized by short stature, several fractures, and distorted bones. The main contributing factor to OI is mutations in the genes needed to produce type 1 collagen. While severe OI is perinatally fatal, mild OI can occasionally not be detected until maturity. The frequency of Osteogenesis imperfecta ranges from about 1:15,000 to 1:20,000 births. Five kinds of …
Published in International Journal of Orthopedic Nursing and Practices · Vol. 2, Issue 1, 2024 · pp. 1–10 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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The Intersection of Bioinformatics and Cellular Function in Disease Modeling
Abstract: The integration of bioinformatics and cellular biology has revolutionized our understanding of disease mechanisms, offering unprecedented opportunities to model complex biological systems. Bioinformatics is an interdisciplinary field that merges biology, computer science, and statistics, offering advanced tools to analyze vast biological datasets. Cellular functions, including gene expression, protein interactions, and metabolic pathways, form the foundation of physiological and pathological states. Disruptions in these processes can result in diseases like cancer, …
Published in International Journal of Cell Biology and Cellular Functions · Vol. 2, Issue 2, 2024 · pp. 1–7 Read article
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Screening Phytocompounds of Tinospora cordifolia to Find Potential Drug Targets for Cystic Fibrosis
Abstract: This study aimed to evaluate the therapeutic potential of phytocompounds derived from Tinospora cordifolia in treating cystic fibrosis (CF), a genetic disorder caused by mutations in the CFTR gene that lead to severe respiratory and digestive complications. Phytocompounds were retrieved from the IMPPAT database and subjected to molecular docking simulations using PyRx to assess their binding affinity to the CFTR protein. The top-scoring compounds – sterol, magnoflorine, tembetarine, kaempferol, and …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 3, Issue 1, 2025 · pp. 16–24 Read article
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Dermatophytoses: Taxonomy, Pathogenesis, Diagnosis, Resistance, and Management.
Abstract: Dermatophytes, belonging to the family Arthrodermataceae, are keratinophilic fungi responsible for superficial mycoses. Dermatophytoses affect the skin, hair, and nails globally. Over the last few years, dermatophytic infections have seen a sharp rise in India, with the main causative agent being antifungal-resistant Trichophyton mentagrophytes genotype VIII. This review provides a detailed overview of dermatophytoses, including taxonomy, pathogenesis, epidemiology, diagnosis, and treatment. Dermatophytes belong to the kingdom Fungi, family Arthrodermataceae, with …
Published in International Journal of Fungi · Vol. 3, Issue 1, 2026 · pp. 28–37 Read article
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Pharmacoepigenomics of Replication Timing: How Anti- Cancer Drugs Reshape Chromatin Domains and Mutational Landscapes.
Abstract: DNA replication timing serves as a fundamental epigenetic feature that organizes genome function during the cell cycle (3), while anti-cancer drugs profoundly alter this process to disrupt tumor growth(4). These agents target chromatin architecture, shifting replication domains and reshaping mutational patterns critical for cancer evolution (1,5). DNA replication timing (RT) domains serve as dynamic epigenetic organizers, partitioning the genome into early- and late-replicating regions that correlate with chromatin states, gene …
Published in International Journal of Molecular Biotechnological Research · Vol. 4, Issue 1, 2026 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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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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Mystic Malignant Melanoma Modalities
Abstract: Melanoma is a highly aggressive form of cancer with four recognized subtypes. In about 90% of cases, melanoma is diagnosed as a primary tumor, without signs of spreading. If caught early, the survival rate is quite high, reaching around 94%. However, for metastatic melanoma, the survival rate drops significantly to about 40%. Diagnosing melanoma can be tricky, as it shares features with benign conditions like seborrheic keratosis, benign moles, blue …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 13, Issue 3, 2024 · pp. 1–10 Read article
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FMR1 Key Biomarker in Fragile X Syndrome- A Comprehensive Review
Abstract: Fragile X Syndrome (FXS) is a complicated neurodevelopmental condition that causes intellectual disabilities, behavioural issues, and a variety of physical symptoms. Central to understanding FXS is the Fragile X Mental Retardation 1 (FMR1) gene, pivotal in the disorder's pathogenesis. This review examines FMR1 as a key biomarker in FXS, drawing on recent research insights. The FMR1 gene, situated on the X chromosome, encodes the fragile X mental retardation protein (FMRP), …
Published in International Journal of Brain Sciences · Vol. 1, Issue 2, 2024 · pp. 8–18 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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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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Mast Cell Activation Disorders: Diagnosis & Management
Abstract: Mast Cell Activation Disorder (MCAD) is a broad umbrella term which includes a heterogenous group of disorders characterized by the inappropriate and excessive release of mediators from mast cells. Mast Cell Activation Syndrome represents a severe and well-defined form within the broader spectrum of Mast Cell Activation Disorders. These disorders are generally divided into clonal and non-clonal categories. Clonal conditions include Systemic Mastocytosis, Cutaneous Mastocytosis, and Monoclonal Mast Cell Activation …
Published in Research and Reviews : A Journal of Immunology · Vol. 16, Issue 2, 2026 · pp. 31–40 Read article
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First Insights into Whole Genome Sequencing of the Mycobacterium tuberculosis Complex: Molecular Diversity and Drug Susceptibility Patterns in Senegal
Abstract: Background: We conducted a bibliographic analysis of the Mycobacterium tuberculosis complex (MTBC) in sub-Saharan Africa, which included the analysis of 8,139 genomic sequences from 34 of the 49 sub-Saharan African countries. Notably, only one complete sequence from Senegal was identified, which had been generated in the United States. Our primary objective was to utilize whole genome sequencing (WGS) to detect resistance in anti-tuberculous strains of the MTBC in Senegal. This …
Published in Recent Trends in Infectious Diseases · Vol. 2, Issue 1, 2025 Read article
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Efficacy of Combination Therapy with Osimertinib and Afatinib in epidermal growth factor receptor-mutant non-small-cell lung cancer Patients
Abstract: Treatment options for patients with non-small-cell lung cancer who have epidermal growth factor receptor mutations are constrained by the emergence of resistance to epidermal growth factor receptor tyrosine kinase inhibitors. Osimertinib or afatinib alone, when tested in a laboratory model, led to the formation of drug-resistant clones harboring epidermal growth factor receptor secondary mutations. However, combining these drugs prevented the emergence of such mutations. In a Phase II clinical trial, …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 13, Issue 1, 2024 · pp. 13–24 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