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66 articles for “mutations”
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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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Epidermolysis Bullosa and Its Role in Cervical Cancer: An Overview
Abstract: Epidermolysis Bullosa is a group of uncommon genetic disorders that primarily affect the skin and mucous membranes. It is marked by severe skin fragility and the formation of blisters even after minor trauma. Traditionally, the focus of Epidermolysis Bullosa research has been on its dermatological manifestations, which include recurrent blistering, scarring, and the potential for infections due to the compromised skin barrier. However, recent advancements in Epidermolysis Bullosa research have …
Published in International Journal of Cell Biology and Cellular Functions · Vol. 2, Issue 2, 2024 · pp. 14–18 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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Exploring Abies grandis phytocompounds potential by in silico analysis targeting on the 5P9J Protein
Abstract: Blood Cancer, also popular with name ‘Hematologic cancer’ have variety of types: Leukaemia, Lymphoma, Myeloma, uncontrolled multiplication of blood cells mainly affecting to bone marrow and blood cells (White Blood Cells). Lymphoma, originating from lymphatic system resulted in uncontrolled growth and instead of normal apoptosis development of tumor. Myeloma, uncontrolled formation of malignant plasma cells leads disrupting production of healthy blood cells. This situation creates variety of diseases like anaemia, …
Published in International Journal of Molecular Biotechnological Research · Vol. 3, Issue 2, 2025 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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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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Mass Spectrometry–Based Phosphoproteomic Markers to Predict Kinase Inhibitor Response in Solid Tumors
Abstract: Mass spectrometry-based phosphoproteomics has emerged as a powerful tool for predicting kinase inhibitor responses in solid tumors, offering direct functional insights into signaling pathways that surpass traditional genomic profiling by capturing dynamic kinase activities and adaptive resistance mechanisms. Technological breakthroughs, including data- independent acquisition (DIA), trapped ion mobility spectrometry (timsTOF), and efficient enrichment methods like TiO2 or IMAC, now enable comprehensive profiling of over 40,000 phosphorylation sites from limited clinical …
Published in International Journal of Cell Biology and Cellular Functions · Vol. 4, Issue 2, 2026 Read article
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A Comprehensive Review on COVID-19 Evolution and Development
Abstract: The emerging pandemic causing flu-like symptoms in patients is caused by the novel Coronavirus that was previously called 2019-nCoV. The mutated gene of SARS-CoV was transformed to SARS-CoV-2 in animals and further transmitted to humans in the month of December 2019 in Wuhan city of China. Eventually, the novel coronavirus spread all around the globe as a highly contagious disease. COVID-19 (the illness caused by coronavirus) has affected 213 countries …
Published in Research and Reviews : A Journal of Life Sciences Read article
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Melanogenic Inhibitory Effects of Sesamum indicum Phytocompounds Towards CDK 2, c-KIT, and BRAF.
Abstract: Objective: Melanoma is thought to be the fifth most frequent cancer in the US population, despite cancer being the most common cause of death in the globe. BRAF, CDK2, and c-KIT proteins are regarded as potential therapeutic agents since mutations in these proteins are the primary cause of melanoma. For the investigation of their pharmacological properties and therapeutic activities against the target proteins, Sesamum indicum L. and its phytocompounds were …
Published in International Journal of Bioinformatics and Computational Biology 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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The Curious Case of the Sphered Blood Cells: Unveiling Hereditary Spherocytosis
Abstract: Hereditary spherocytosis (HS) is an inherited blood disorder that disrupts the shape and flexibility of red blood cells (RBCs) due to genetic mutations. These abnormal, sphere-shaped RBCs, called spherocytes, are prematurely destroyed in the spleen, leading to hemolytic anemia. Symptoms range from mild fatigue to chronic weakness and shortness of breath. While incurable, Hereditary spherocytosis can be effectively managed. Regular monitoring, folic acid supplementation, and in severe cases, splenectomy (surgical …
Published in Research and Reviews : A Journal of Medical Science and Technology · Vol. 13, Issue 1, 2024 · pp. 49–57 Read article
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Enzyme Stability Prediction using BERT and CNN-A Deep Learning Approach for Enhanced Biocatalysis
Abstract: An important factor in determining the efficacy of industrial enzymes used in various biotechnological applications is their stability. The goal of this study is to develop a predictive model for industrial enzyme stability, which is essential to the efficiency of these enzymes in biotechnological applications. The research takes a comprehensive strategy to comprehend the parameters affecting enzyme stability by combining statistical analysis, deep learning algorithms (BERT and CNN), and molecular …
Published in Research and Reviews : A Journal of Life Sciences · Vol. 14, Issue 2, 2024 · pp. 19–35 Read article
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Angioedema-Diagnosis & Management
Abstract: Angioedema (AE) encompasses a diverse range of conditions categorized into three main groups: (1) angioedema mediated by histamine (AE-H); (2) angioedema mediated by bradykinin (AE-BK); and (3) angioedema with an unknown mechanism (AE-UNK). It can manifest on any part of the body, though commonly affected areas include the face, lips, mouth, throat, larynx, extremities, genital regions, and gastrointestinal tract. AE-H can occur by itself or in conjunction with chronic urticaria, …
Published in Research and Reviews : A Journal of Immunology · Vol. 14, Issue 2, 2024 · pp. 9–21 Read article
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Skin Cancer Detection System Based on Machine Learning for Recognition of Cancerous Images
Abstract: Skin cancer ranks among the most prevalent types of cancer globally and poses significant risks when left untreated. Skin cancer arises when abnormal cells proliferate uncontrollably in the skin. This uncontrolled growth can be triggered by genetic mutations, exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds, or various other factors. In this, the early detection of cancer plays a crucial role in treatment and …
Published in Research and Reviews: A Journal of Medicine · Vol. 14, Issue 2, 2024 · pp. 1–8 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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Aquatic Ecosystems: A Review on Prospecting of Anticancer Molecules from Fungi & Other Microbes
Abstract: Marine biota; namely, actinomycetes, bacteria, fungi, microalgae, green algae, oceanic weeds, mangroves, and other extremophiles constitute about 90% of the oceanic biomass. The organisms are taxonomically diverse, biologically productive/active, and biochemically unique. These unique biochemiques may act as a great source for the discovery of new bioactive molecules, including anticancer drugs. The marines produce medicinally potent biochemicals; namely, sulfated saccharides, polyphenols, and, sterols. Only a few of these alkaloids have …
Published in International Journal of Fungi · Vol. 1, Issue 2, 2024 · pp. 1–22 Read article
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An Evaluative Comparison of CD123 and CD66c as Biomarkers to Detect Minimal Residual Disease in B-Cell Acute Lymphoblastic Leukemia
Abstract: Background: B-cell Acute Lymphoblastic Leukemia (B-ALL) often shows lineage heterogeneity with lymphoid cells expressing myeloid markers. Minimal Residual Disease (MRD) refers to the small number of cancer cells that may remain in a patient's body after treatment and that are undetectable by standard diagnostic methods. In diseases like B-cell Acute Lymphoblastic Leukemia (B-ALL), MRD is a critical prognostic indicator, as its presence can signal a higher risk of relapse. In …
Published in Research and Reviews : A Journal of Medical Science and Technology · Vol. 13, Issue 3, 2024 · pp. 7–12 Read article
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Exploring the Complexities of Parkinson’s Disease
Abstract: Parkinson’s disease (PD) is a neurological disorder, primarily affecting older adults, marked by both motor and non-motor symptoms. This review explores PD as a multisystem disorder that influences the central, enteric, and autonomic nervous systems, along with the immune system and gastrointestinal tract. Key pathogenic features include the degeneration of dopamine-producing neurons in the substantia nigra and the formation of Lewy bodies containing misfolded α-synuclein proteins. The bradykinesia, tremors, stiffness, …
Published in Research and Reviews: A Journal of Neuroscience · Vol. 14, Issue 3, 2024 · pp. 1–8 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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Deciphering the Roles of Estrogen Receptors and 27-Hydroxycholesterol in BC Progression
Abstract: Breast cancer (BC) ranks among the top causes of cancer-related deaths in women worldwide. Many risk factors of BC are linked to estrogen. Experiments of Beatson in 1896 show the role of steroid hormones as major determinant in BC. Action of steroid hormones is mediated by their receptors including Estrogen receptors (ERs). ERs are part of a subfamily of ligand-regulated transcription factors. Their primary role is to translate hormone signals …
Published in International Journal of Genetic Modifications and Recombinations · Vol. 2, Issue 2, 2024 · pp. 18–26 Read article