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33 articles for “genetic mutations”
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Wiskott-Aldrich Syndrome: A Comprehensive Guide
Abstract: Wiskott-Aldrich Syndrome (WAS) is an uncommon genetic disorder inherited through the X chromosome, marked by a combination of immune system deficiencies, eczema, and low platelet counts. This syndrome primarily affects males, leading to significant morbidity and mortality due to recurrent infections, bleeding complications, and autoimmune diseases. Mutations in the WAS gene disrupt the production of the Wiskott-Aldrich Syndrome protein (WASp), crucial for the functioning of immune cells and platelet formation. …
Published in Research and Reviews : A Journal of Immunology · Vol. 14, Issue 2, 2024 · pp. 39–46 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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X - Chromosome Linked Rett Syndrome
Abstract: Rett Syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females synonymized as “Cerebroatrophic hyperammonemia”. It is due to genetic mutation of the MECP2 gene present on the X-chromosome. Develops as a new mutation with
Published in Research and Reviews: A Journal of Neuroscience 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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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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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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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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A Brief Review On Nanoparticles Drug Delivery System Used In Cervical Cancer
Abstract: Among cervical tumor-related deaths worldwide, cervical cancer is a major cause. The limitations of traditional methods, such as chemotherapy and radiation therapy, stem from their adverse effects and increased susceptibility to medications. Despite being seen as innovative options, immune checkpoint inhibitors (ICIs) have rather low clinical response rates. Reliable treatments for patients with metastatic or recurring cervical cancer are currently lacking. Lately, nanomaterials including polymers, liposomes, and dendrimers have been …
Published in Research and Reviews : A Journal of Life Sciences · Vol. 15, Issue 1, 2025 · pp. 30–40 Read article
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Pathogens in Nosocomial Infections: Epidemiology, Resistance, and Control Measures
Abstract: Nosocomial infections, also known as healthcare-associated infections (HAIs), are a serious global health issue, leading to higher patient morbidity, prolonged hospital stays, and increased medical costs. Various pathogens—such as bacteria, viruses, fungi, and parasites—are responsible for these infections, especially in healthcare environments where they easily spread. They can be transmitted through direct contact with infected patients, contaminated medical equipment, or even airborne particles.Patients with weakened immune systems, those requiring prolonged …
Published in International Journal of Pathogens · Vol. 2, Issue 1, 2025 · pp. 12–16 Read article
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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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Biological Membranes: Structure, Function, and Their Roles in Disease Pathophysiology
Abstract: Biological membranes are important structures that control cellular work, signal transmission, transport, and communication. Dysfunction of membranes has been considered in the development of many diseases, such as cancer, neurodegenerative diseases, and infections, with the distortion of lipid composition, protein activity, and cellular connections involved in the pathogenesis of the disease. The damage on membrane can be caused by oxidative stress, genetic mutation, and environmental influence to disrupt cellular homeostasis. …
Published in International Journal of Membranes · Vol. 3, Issue 1, 2026 · pp. 38–46 Read article
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Drug Resistance in Targeted Cancer Treatment: Clinical Difficulties, Molecular Mechanisms, and Emerging Strategies
Abstract: Targeted cancer therapy, which selectively inhibits the molecular mechanisms responsible for tumor growth and development, has revolutionized modern oncology. Targeted therapies have lower systemic toxicity and better therapeutic efficacy when compared to traditional chemotherapy. However, the emergence of medication resistance often limits the long-term efficacy of these treatments, ultimately resulting in treatment failure and disease progression. Drug resistance develops through a number of intricate biological processes and can be innate …
Published in Research and Reviews: A Journal of Pharmaceutical Science · Vol. 17, Issue 1, 2026 · pp. 130–138 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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Visualization of genomic sequence in BRCA1 and BRCA2
Abstract: Heredity is the main reason of breast cancer in women and mutation or genetic variations also another reason for the spread of breast cancer. Heredity and genetic variations are responsible 5%-10%, 30%-50% respectively. There are 90% chances of developing neoplasm by the mutations. The effect of BRCA1 and BRCA2 may leads to the variations in DNA therefore it should be in limited amounts so that there will be minimum changes …
Published in Research and Reviews: A Journal of Pharmacology · Vol. 15, Issue 1, 2025 · pp. 49–55 Read article
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Exploring the Genetic and Environmental Factors Contributing to Ovarian Cancer in Women in Mumbai, India
Abstract: Background: Ovarian cancer incidence in Mumbai has risen by 30% over the past decade, with an age-standardized rate of 9.1 per 100,000 women, contrasting stable trends in Western nations. This study investigates the interplay of genetic and environmental factors driving this disparity in Mumbai’s diverse population. Methods: A hospital-based case-control study was conducted at a hospital, enrolling 200 epithelial ovarian cancer cases (aged 30–70 years) and 400 age-matched controls. Germline …
Published in Research and Reviews: Journal of Oncology and Hematology · Vol. 14, Issue 3, 2025 · pp. 12–17 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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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