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  1. A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease

    Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...

    Shimaa Abobakr, Olfat Shaker, ... Ayman Mohamed Hany in Immunogenetics
    Article Open access 10 July 2024
  2. The obesity-related mutation gene on nonalcoholic fatty liver disease

    The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...

    Yen-Yu Chen, Chi-Sheng Chen, ... Shu-Chi Wang in Human Genetics
    Article 10 July 2024
  3. Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

    Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...

    Zachary T. Sentell, Zachary W. Nurcombe, ... Thomas M. Kitzler in European Journal of Human Genetics
    Article 10 July 2024
  4. A small molecule compound targeting hemagglutinin inhibits influenza A virus and exhibits broad-spectrum antiviral activity

    Influenza A virus (IAV) is a widespread pathogen that poses a significant threat to human health, causing pandemics with high mortality and...

    Yin-yan Li, Guo-dong Liang, ... Jie Yang in Acta Pharmacologica Sinica
    Article 10 July 2024
  5. Epidemiology of biliary tract-associated bloodstream infections and adequacy of empiric therapy: an Australian population-based study

    Purpose

    Although the biliary tract is a common source of invasive infections, the epidemiology of cholangitis- and cholecystitis-associated...

    Ian Gassiep, Felicity Edwards, Kevin B. Laupland in European Journal of Clinical Microbiology & Infectious Diseases
    Article Open access 10 July 2024
  6. Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes

    Age at diagnosis (AAD) of Type 1 diabetes (T1D) is determined by the age at onset of the autoimmune attack and by the rate of beta cell destruction...

    Pierre Bougnères, Sophie Le Fur, ... Alain-Jacques Valleron in Journal of Human Genetics
    Article 10 July 2024
  7. Pharmacogenetics in Italy: current landscape and future prospects

    Pharmacogenetics investigates sequence of genes that affect drug response, enabling personalized medication. This approach reduces drug-induced...

    Matteo Floris, Antonino Moschella, ... Monica Miozzo in Human Genomics
    Article Open access 10 July 2024
  8. Liver X receptor inverse agonist SR9243 attenuates rheumatoid arthritis via modulating glycolytic metabolism of macrophages

    Liver X receptors (LXRs) which link lipid metabolism and inflammation, were overexpressed in experimental rheumatoid arthritis (RA) rats as observed...

    De-chong Zheng, Jia-qin Hu, ... Ying **e in Acta Pharmacologica Sinica
    Article 10 July 2024
  9. Creation and validation of the first infinium DNA methylation array for the human imprintome

    Background

    Differentially methylated imprint control regions (ICRs) regulate the monoallelic expression of imprinted genes. Their epigenetic...

    Natalia Carreras-Gallo, Varun B. Dwaraka, ... Cathrine Hoyo in Epigenetics Communications
    Article Open access 10 July 2024
  10. Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

    In this study, we explore the landscape of short tandem repeats (STRs) within the human genome through the lens of evolving technologies to detect...

    Kevin Uguen, Jacques L. Michaud, Emmanuelle Génin in European Journal of Human Genetics
    Article 10 July 2024
  11. Antiferromagnetic artificial neuron modeling of the withdrawal reflex

    Replicating neural responses observed in biological systems using artificial neural networks holds significant promise in the fields of medicine and...

    Hannah Bradley, Lily Quach, ... Vasyl Tyberkevych in Journal of Computational Neuroscience
    Article 10 July 2024
  12. Methylprednisolone Modulates the Tfr/Tfh ratio in EAE-Induced Neuroinflammation through the PI3K/AKT/FoxO1 and PI3K/AKT/mTOR Signalling Pathways

    Methylprednisolone (MP) is a potent glucocorticoid that can effectively inhibit immune system inflammation and brain tissue damage in Multiple...

    Nan Wu, Yun Zhao, ... Xueli Fan in Inflammation
    Article Open access 09 July 2024
  13. Map** the influence of hydrocarbons mixture on molecular mechanisms, involved in breast and lung neoplasms: in silico toxicogenomic data-mining

    Background

    Exposure to chemical mixtures inherent in air pollution, has been shown to be associated with the risk of breast and lung cancers. However,...

    A’edah Abu-Bakar, Maihani Ismail, ... Salmaan Hussain Inayat-Hussain in Genes and Environment
    Article Open access 09 July 2024
  14. A complete chromosome substitution map** panel reveals genome-wide epistasis in Arabidopsis

    Chromosome substitution lines (CSLs) are tentatively supreme resources to investigate non-allelic genetic interactions. However, the difficulty of...

    Cris L. Wijnen, Ramon Botet, ... Joost J. B. Keurentjes in Heredity
    Article Open access 09 July 2024
  15. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

    Background

    Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of...

    Yvan de Feraudy, Marie Vandroux, ... Jocelyn Laporte in Genome Medicine
    Article Open access 09 July 2024
  16. E2F1 Facilitates the Proliferation and Stemness of Gastric Cancer Cells by Activating CDC25B Transcription and Modulating the MAPK Pathway

    Gastric cancer (GC) is a health problem that concerns people around the world. CDC25B is an essential cell cycle regulatory factor that is...

    Ming Liu, Chaobo Xu, ... Yijun Mei in Biochemical Genetics
    Article 09 July 2024
  17. Clinical and genomic features of Mycobacterium avium complex: a multi-national European study

    Background

    The Mycobacterium avium complex (MAC) comprises the most frequent non-tuberculous mycobacteria (NTM) in Central Europe and currently...

    Nils Wetzstein, Margo Diricks, ... Thomas A. Wichelhaus in Genome Medicine
    Article Open access 09 July 2024
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