Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.bpg.2022.101801 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prevalence and clinical profile of hepatitis C virus infections in multitransfused thalassemic patients in the capital twin cities of Pakistan.
Braz J Biol
January 2025
Operational Research Center in Healthcare, Near East University, Mersin, Turkey.
Hepatitis C virus (HCV) presents a significant global health concern, affecting 3.3% of the world's population. The primary mode of HCV transmission is through blood and blood products.
View Article and Find Full Text PDFMastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.
Codas
January 2025
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre - HCPA - Porto Alegre (RS), Brasil.
Purpose: to characterize mastication and electrical activation of the masseter and anterior temporalis muscles in children and adolescents with osteogenesis imperfecta (OI), and relate results to guided occlusion and occlusal interference.
Methods: This observational, analytical cross-sectional study included 22 subjects divided into mild OI (MOI) (type 1) (n=15) and moderate-to-severe OI (MSOI) (types 3, 4, and 5) (n=7) groups. The Orofacial Myofunctional Evaluation with Scores (OMES) form was used to evaluate the clinical aspects of mastication.
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Primary ciliary dyskinesia is a rare monogenic syndrome that is associated with chronic respiratory disease, infertility, and laterality defects. Although more than 50 genes causative of primary ciliary dyskinesia have been identified, variants in the genes encoding coiled-coil domain-containing 39 (CCDC39) and CCDC40 in particular cause severe disease that is not explained by loss of ciliary motility alone. Here, we sought to understand the consequences of these variants on cellular functions beyond impaired motility.
View Article and Find Full Text PDFOcular Safety and Toxicology of Subretinal Gene Therapy With rAAV.hPDE6A in Nonhuman Primates.
Transl Vis Sci Technol
January 2025
STZ eyetrial at the Centre for Ophthalmology, Tuebingen, Germany.
Purpose: Reports of gene therapy-associated retinal atrophies and inflammation have highlighted the importance of preclinical safety assessments of adeno-associated virus (AAV) vector systems. We evaluated in nonhuman primates (NHPs) the ocular safety and toxicology of a novel AAV gene therapy targeting retinitis pigmentosa caused by mutations in PDE6A, which has since been used in a phase I/II clinical trial (NCT04611503).
Methods: A total of 34 healthy cynomolgus animals (Macaca fascicularis) were treated with subretinal injections of rAAV.
[Gene editing is changing the treatment of hereditary diseases].
Lakartidningen
January 2025
docent, verksamhetschef, Karolinska centrum för cellterapi (KCC), Karolinska universitetssjukhuset, Stockholm; Karolins-ka ATMP-centrum; institutionen för laboratorie-medicin, Karolinska institutet.
Gene editing is a novel technology within gene therapy, which changes sequences in chromosomal DNA with precision. Even if there are alternative strategies, the Nobel Prize-winning CRISPR/Cas technology has become the dominating principle. During recent years base editing and prime editing, permitting editing without DNA double-strand breaks, have been developed.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!