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http://dx.doi.org/10.1186/s13053-022-00228-y | DOI Listing |
Eur J Med Chem
August 2025
Dipartimento di Scienze degli Alimenti e del Farmaco (DipALIFAR), Università degli Studi di Parma, Viale delle Scienze, 27/A, 43124, Parma, Italy. Electronic address:
Cystic fibrosis (CF) is a multifaceted disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resulting thick mucus accumulation increases the risk of microbial infections, leading to chronic lung inflammation, progressive tissue damage, and pulmonary exacerbations (PEs). Respiratory viruses may facilitate bacterial colonization, significantly contributing to PEs.
View Article and Find Full Text PDFPLoS Comput Biol
September 2025
Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Fanconi Anemia (FA) is a heritable syndrome characterized by DNA damage repair deficits, frequent malformations and a significantly elevated risk of bone marrow failure, leukemia, and mucosal head and neck squamous cell carcinomas (HNSCC). Hematopoietic stem cell gene therapy can prevent marrow failure and lower leukemia risk, but mucosal gene therapy to lower HNSCC risk remains untested. Major knowledge gaps include an incomplete understanding of how rapidly gene-corrected cellular lineages could spread through the oral epithelium, and which delivery parameters are critical for ensuring efficient gene correction.
View Article and Find Full Text PDFClin Kidney J
September 2025
Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, Rome, Italy.
Genome editing technologies, particularly clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9, have transformed biomedical research by enabling precise genetic modifications. Due to its efficiency, cost-effectiveness and versatility, CRISPR has been widely applied across various stages of research, from fundamental biological investigations in preclinical models to potential therapeutic interventions. In nephrology, CRISPR represents a groundbreaking tool for elucidating the molecular mechanisms underlying kidney diseases and developing innovative therapeutic approaches.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Department of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, China.
[This corrects the article DOI: 10.3389/fmed.2025.
View Article and Find Full Text PDFMol Ther Methods Clin Dev
September 2025
Molecular Biology Interdepartmental Program, University of California, Los Angeles, Los Angeles, CA 90095, USA.
X-linked agammaglobulinemia (XLA) is a rare inborn error of immunity caused by loss-of-function mutations in the gene encoding Bruton's tyrosine kinase (BTK). XLA patients lack mature B cells and have negligible antibody levels, leaving them susceptible to recurrent bacterial and chronic viral infections. Autologous hematopoietic stem cell gene therapy with gene-corrected HSC may serve as a promising treatment of XLA; this therapy would provide a one-time cure and would replace lifelong immunoglobulin replacement therapy.
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