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  • Open Access

    REVIEW

    Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies

    RAQUEL GÓMEZ-MOLINA1,*, RAQUEL MARTÍNEZ2,3,4, MIGUEL SUÁREZ2,3,4,*, ANA PEÑA-CABIA1, MARíA CONCEPCIóN CALDERÓN1, JORGE MATEO3,4

    Oncology Research, Vol.33, No.7, pp. 1531-1545, 2025, DOI:10.32604/or.2025.063951 - 26 June 2025

    Abstract Lynch syndrome (LS), also known as hereditary non-polyposis colorectal cancer (HNPCC), is an inherited condition associated with a higher risk of colorectal cancer (CRC) and other cancers. It is caused by germline mutations in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6 and PMS2. These mutations lead to microsatellite instability (MSI) and defective DNA repair mechanisms, resulting in increased cancer risk. Early detection of LS is crucial for effective management and cancer prevention. Endoscopic surveillance, particularly regular colonoscopy, is recommended for individuals with LS to detect CRC at early stages. Additionally, universal screening of CRC for More > Graphic Abstract

    Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies

  • Open Access

    ARTICLE

    Large Language Model in Healthcare for the Prediction of Genetic Variants from Unstructured Text Medicine Data Using Natural Language Processing

    Noor Ayesha1, Muhammad Mujahid2, Abeer Rashad Mirdad2, Faten S. Alamri3,*, Amjad R. Khan2

    CMC-Computers, Materials & Continua, Vol.84, No.1, pp. 1883-1899, 2025, DOI:10.32604/cmc.2025.063560 - 09 June 2025

    Abstract Large language models (LLMs) and natural language processing (NLP) have significant promise to improve efficiency and refine healthcare decision-making and clinical results. Numerous domains, including healthcare, are rapidly adopting LLMs for the classification of biomedical textual data in medical research. The LLM can derive insights from intricate, extensive, unstructured training data. Variants need to be accurately identified and classified to advance genetic research, provide individualized treatment, and assist physicians in making better choices. However, the sophisticated and perplexing language of medical reports is often beyond the capabilities of the devices we now utilize. Such an… More >

  • Open Access

    REVIEW

    The Role of Linker Histone Mutation in Oncogenesis: Molecular Mechanism and Structural Impact

    Gege Liu#, Houfang Zhang#, Yunhui Peng*

    BIOCELL, Vol.49, No.4, pp. 519-538, 2025, DOI:10.32604/biocell.2025.061470 - 30 April 2025

    Abstract Nucleosomes play a vital role in chromatin organization and gene regulation, acting as key hubs that interact with various chromatin-associated factors through diverse binding mechanisms. Recent research has highlighted the prevalence of mutations in linker histones across different types of cancer, emphasizing their critical involvement in cancer progression. These cancer-associated mutations in linker histones have been shown to disrupt nucleosome stacking and the formation of higher-order chromatin structures, which in turn significantly affect epigenetic regulatory processes. In this review, we provide a comprehensive analysis of how cancer-associated linker histone mutations alter their physicochemical properties, influencing More >

  • Open Access

    REVIEW

    Use of DNA methylation patterns for early detection and management of lung cancer: Are we there yet?

    MILICA KONTIC1,2,*, FILIP MARKOVIC1

    Oncology Research, Vol.33, No.4, pp. 781-793, 2025, DOI:10.32604/or.2024.057231 - 19 March 2025

    Abstract Detecting lung cancer early is crucial for improving survival rates, yet it remains a significant challenge due to many cases being diagnosed at advanced stages. This review aims to provide advances in epigenetics which have highlighted DNA methylation patterns as promising biomarkers for early detection, prognosis, and treatment response in lung cancer. Techniques like bisulfite conversion followed by PCR, digital droplet polymerase chain reaction, and next-generation sequencing are commonly used for detecting these methylation patterns, which occur early in the cancer development process and can be detected in non-invasive samples like blood and sputum. Key… More >

  • Open Access

    REVIEW

    The genetics of pediatric inflammatory bowel disease: Towards precision medicine

    AHMAD SHAHIR MOHAMAD NAZRI, NAZIHAH MOHD YUNUS, MARAHAINI MUSA*

    BIOCELL, Vol.49, No.1, pp. 149-160, 2025, DOI:10.32604/biocell.2024.057352 - 24 January 2025

    Abstract Pediatric inflammatory bowel disease (IBD) is a chronic and heterogeneous disease. IBD is commonly classified into Crohn’s disease and ulcerative colitis. It is linked to serious symptoms and complications. The onset of IBD commonly occurs during adolescence. Despite the significant number of cases globally (~5 million), the causes of pediatric IBD, which constitutes 25% of IBD patients, are not yet fully understood. Apart from environmental factors, genetic factors contribute to a higher risk of developing IBD. The predisposition risk of IBD can be investigated using genetic testing. Genetic mechanisms of pediatric IBD are highly complex More >

  • Open Access

    ARTICLE

    DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Congenital Heart Diseases

    Shuliang Xia1,2,3,#, Huikang Tao2,#, Shixin Su4, Xinxin Chen2, Li Ma2, Jianru Li5, Bei Gao6, Xumei Liu5, Lei Pi7, Jinqing Feng4, Fengxiang Li2, Jia Li4,*, Zhiwei Zhang1,3,*

    Congenital Heart Disease, Vol.19, No.2, pp. 247-256, 2024, DOI:10.32604/chd.2024.052583 - 16 May 2024

    Abstract Aims: Multiple genes and environmental factors are known to be involved in congenital heart disease (CHD), but epigenetic variation has received little attention. Monozygotic (MZ) twins with CHD provide a unique model for exploring this phenomenon. In order to investigate the potential role of Deoxyribonucleic Acid (DNA) methylation in CHD pathogenesis, the present study examined DNA methylation variation in MZ twins discordant for CHD, especially ventricular septal defect (VSD). Methods and Results: Using genome-wide DNA methylation profiles, we identified 4004 differentially methylated regions (DMRs) in 18 MZ twin pairs discordant for CHD, and 2826 genes were… More > Graphic Abstract

    DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Congenital Heart Diseases

  • Open Access

    REVIEW

    Pathogenic genes associated with Parkinson’s disease: molecular mechanism overview

    TINGTING LIU1,#, YIWEI HAO2,#, LIFENG ZHAO2,*

    BIOCELL, Vol.48, No.5, pp. 707-729, 2024, DOI:10.32604/biocell.2024.049130 - 06 May 2024

    Abstract Parkinson’s disease (PD) is a common neurodegenerative disease in the elderly, accounting for more than 1% of the population aged 65 years. Monogenic inheritance is relatively rare in PD, accounting for approximately 5% to 10% of PD patients, and there is a growing body of evidence suggesting that multiple genetic risk factors play a significant role in the pathogenesis of PD. Several groups have identified and reported a number of genes carrying mutations associated with affected family members. Mutated genes associated with PD are also candidates for idiopathic PD, and these genes may also carry… More >

  • Open Access

    REVIEW

    Elicitation-Based Modulation of Shelf Life in Fruits: Physiological and Molecular Insights

    Ankita Kundu1, Abir Das1, Sayan Pal1, Arijit Ghosh1, Malay Kumar Adak1,*, Masayuki Fujita2, Mirza Hasanuzzaman3,*

    Phyton-International Journal of Experimental Botany, Vol.92, No.8, pp. 2283-2300, 2023, DOI:10.32604/phyton.2023.028178 - 25 June 2023

    Abstract The process of ripening involves physiological and biochemical events that become a concern during postharvest storage. We have documented different approaches for the preservation and maintenance of fruit quality during the postharvest period that are biocompatible and fully safe for consumption. Chemical residues that sustain sensory characteristics, such as color, flavor, aroma, and texture, are considered. In fruit ripening, both physical and chemical elicitors are described that regulate ethylene biosynthesis or its signaling for gene expression. The key regulatory enzymes, such as ACC synthase and ACC oxidase, for ethylene biosynthesis, are important for both climacteric… More >

  • Open Access

    REVIEW

    DNA methylation as a mediator of epigenetic regulation in the pathogenesis and precision medicine of osteoarthritis: An updated review

    QIAO ZHOU1,2,3, JIAN LIU2,4, LING XIN4, YANYAN FANG2,4, LEI WAN2,4, DAN HUANG2,4, JINCHEN GUO1, JIANTING WEN2,4

    BIOCELL, Vol.47, No.4, pp. 761-772, 2023, DOI:10.32604/biocell.2023.026698 - 08 March 2023

    Abstract The pathophysiology of osteoarthritis (OA) is multifactorial, with the primary risk factors being obesity, age, environmental variables, and genetic predisposition. The available evidence suggests that genetic diversity does not adequately account for all clinical characteristics and heterogeneity of OA. Genetics has emerged as a nascent and crucial area of research in OA. The epigenetic module presents a potential link between genetic and environmental risk factors and the susceptibility and pathogenesis of OA. As a critical epigenetic alteration, DNA methylation has been shown to have an important role in the etiology of OA and is a More >

  • Open Access

    ARTICLE

    Genetics Based Compact Fuzzy System for Visual Sensor Network

    Usama Abdur Rahman1,*, C. Jayakumar2, Deepak Dahiya3, C.R. Rene Robin4

    Computer Systems Science and Engineering, Vol.45, No.1, pp. 409-426, 2023, DOI:10.32604/csse.2023.026846 - 16 August 2022

    Abstract As a component of Wireless Sensor Network (WSN), Visual-WSN (VWSN) utilizes cameras to obtain relevant data including visual recordings and static images. Data from the camera is sent to energy efficient sink to extract key-information out of it. VWSN applications range from health care monitoring to military surveillance. In a network with VWSN, there are multiple challenges to move high volume data from a source location to a target and the key challenges include energy, memory and I/O resources. In this case, Mobile Sinks(MS) can be employed for data collection which not only collects information… More >

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