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25 articles for “Genetic Disorder”
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Research ArticleOpen accessPhrase in the titleExplainability Aware Heterogeneous Temporal Graph Transformer for Automated Genetic Disorder Detection from Genomic DataPuvaneswari Subramaniapillai, Indirani Govindasamy, Revathy GurumurthyGenetic disorders affect millions worldwide, posing major challenges for accurate diagnosis and effective treatments. New developments in genomic technologies, especially Next-Generation Sequencing (NGS), have enhanced the classification of genetic modification and improved diagnostic abilities. Moreover, the Machine Learning (ML) and Deep Learning (DL) methods emerged as efficient tools for evaluating the intricate genomic data and determining the patterns, which can … …Journal of Computer Science, Vol. 22, Issue 11 · 14 Oct 2026 · 566 accessesView PDFCite
Review ArticleOpen accessIn the keywordsA Review on Epidemiology and Thalassemia Distribution, in Relevance to United Arab Emirates PopulationPooja Shivappa, Grisilda Vidya Bernhardt, Manal Munir Mufti, Ayesha BanuThalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. Depending on the type of mutated globin, there are two … …OnLine Journal of Biological Sciences, Vol. 21, Issue 2 · 1 Jun 2021 · 7,570 accessesView PDFCite
Research ArticleOpen accessIn the abstractInvestigation of Biochemical and Hormonal Parameters in Male Patients with MigraineDua’a AlHassoon, Omar Atrooz, Husni FarahMigraine is a complex neurological disorder, including hormonal and biochemical imbalances. The physiological changes include neural variations due to genetic, environmental, and lifestyle factors. Therefore, the research aims to investigate total testosterone levels, Acetylcholine (Ach), prolactin, and clinical markers (calcium, magnesium, glucose, and lipid profile) across migraine patients. The research employed a case-control observational design conducted at Al-Ahliyya Amman University, … …OnLine Journal of Biological Sciences, Vol. 26, Issue 2 · 22 Jul 2026 · 815 accessesView PDFCite
Research ArticleOpen accessIn the abstractAlpha Thalassemia Carrier Detection a Diagnostic ApproachH. R. Samruddhi, Anupama Hegde, Harsha Prasada L et al.Alpha-thalassemia is one of the most common single-gene disorders, and its carrier state often remains undetected due to nonspecific hematological findings. This study aimed to identify alpha-thalassemia carrier status among people being investigated for hemoglobinopathy in a tertiary care setting. A cross-sectional laboratory-based study was conducted from January 2023 to January 2024. Hemoglobin variant analysis reports by High Performance Liquid … …OnLine Journal of Biological Sciences, Vol. 26, Issue 3 · 22 Sep 2026 · 481 accessesView PDFCite
Literature ReviewOpen accessIn the abstractIntracranial Atherosclerotic Disease: Treatment Potential and Diagnostic OpportunitiesAnastasia Vladimirovna Poznyak, Victoria Alexandrovna Khotina, Anton Yuvenalievich Postnov et al.Atherosclerosis, characterized by the accumulation of atherosclerotic plaques within large arteries, substantially increases the risk of cardiovascular events, including ischemic stroke. Intracranial atherosclerotic disease (ICAD) represents a particularly significant clinical threat given its strong association with ischemic stroke across multiple intracranial arterial territories. This review provides a comprehensive analysis of the pathogenesis, diagnosis, and management of intracranial atherosclerosis. Special attention … …OnLine Journal of Biological Sciences, Vol. 26, Issue 1 · 5 May 2026 · 1,093 accessesView PDFCite
Literature ReviewOpen accessIn the abstractPotential Therapies for Mitochondrial Diseases Caused by mtDNA MutationsAnastasia V. Poznyak, Nikolay A. Orekhov, Dmitry Felixovich Beloyartsev et al.Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), present significant genetic and clinical complexities that challenge accurate diagnosis and treatment. This review examines the critical molecular mechanisms underlying these disorders, particularly the role of heteroplasmy, where mixtures of mutated and normal mtDNA influence disease severity, and the nuclear-mitochondrial DNA interactions that compound diagnostic and therapeutic challenges. The threshold effect, … …American Journal of Biochemistry and Biotechnology, Vol. 21, Issue 4 · 15 Feb 2026 · 1,735 accessesView PDFCite
Research ArticleOpen accessIn the abstractThe Relevance of Bioinformatic Tools in the Study of Polymorphisms of the B4GALNT2 Gene and its Association with CancerEddaikra Atika, Haddouche Hayet, Touil-Boukoffa ChafiaThe human gene B4GALNT2 encodes an enzyme (β1,4-N-acetylgalactosaminyltransferase II) that controls the expression of the blood group Sda carbohydrate’s antigen. This gene is located in position 17q21,32 and consists of 11 exons. The characterization and understanding of genetic variation is a real challenge in human genetics, both for healthy individuals and diseased ones. The in silico study of the B4GALNT2 … …Current Research in Bioinformatics, Vol. 8, Issue 1 · 27 Feb 2020 · 6,767 accessesView PDFCite
EditorialOpen accessIn the abstractChronic Visceral Pain and Functional DiseasesVictor V. ChabanA functional disorder is a medical condition that impairs the normal physiological function of organs without organic cause such as inflammation. The accumulation of abnormalities that limit body functions is a major risk factor for patients with functional disorders such as Irritable Bowel Syndrome (IBS), Chronic Pelvic Pain (CPP), Painful Bladder Syndrome (PBS) and others. Often, functional disorders co-morbid by … …International Journal of Research in Nursing, Vol. 8, Issue 1 · 21 Jun 2017 · 6,992 accessesView PDFCite
EditorialOpen accessIn the abstractBig Data and Parkinson’s Disease - from Understanding of Disease to Personalised MedicineYen F. Tai, Nicola PaveseThe advancement of information technology in recent years has generated a huge amount of datasets in all areas of scientific research. This has led to new opportunities to harness the 'Big Data' to improve our understanding of diseases - from investigating disease mechanisms to monitoring treatment responses. The Big Data approach is a data-driven and often hypothesis-free, way of studying … …Neuroscience International, Vol. 7, Issue 1 · 27 Jul 2016 · 7,755 accessesView PDFCite
Research ArticleOpen accessIn the abstractAssessment of Quality of Life, Anxiety and Depression in Children with Turner Syndrome: A Case-Control StudyKhaled Saad, Abdulrahman Abdullah Al-Atram, Khaled A. Abdel Baseer et al.Turner syndrome is a genetic disorder that affects only females and is caused by the loss of the whole or a part of the X-chromosome. The aim of this study was to assess the quality of life and frequency of anxiety and depression in a cohort of Egyptian children with Turner Syndrome (TS) diagnosed in Assiut university hospitals, Assiut, Egypt. … …Neuroscience International, Vol. 6, Issue 1 · 13 Mar 2015 · 7,040 accessesView PDFCite