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http://dx.doi.org/10.1378/chest.12-2187 | DOI Listing |
Br J Dermatol
January 2025
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFBiochem Biophys Res Commun
December 2024
Université Franche-Comté, INSERM, EFS BFC, UMR1098, Interactions Hôte-Greffon-Tumeur/Ingénierie Cellulaire et Génique, F-25000, Besançon, France. Electronic address:
Nonsense-Mediated mRNA Decay (NMD) is a key control mechanism of RNA quality widely described to target mRNA harbouring Premature Termination Codon (PTC). However, recent studies suggested the existence of non-canonical pathways which remain unresolved. One of these alternative pathways suggested that specific mRNA could be targeted through their 3' UTR (Untranslated Region), which contain various elements involved in mRNA stability regulation.
View Article and Find Full Text PDFJ Patient Rep Outcomes
January 2025
IQVIA, Deerfield, IL, USA.
Purpose: Eosinophilic esophagitis (EoE), a chronic immune-mediated progressive disease, causes dysphagia, food impaction, abdominal pain, vomiting, and heartburn. EoE requires long-term monitoring and can affect quality of life owing to its symptoms and associated emotional and social burden. This study aimed to understand patients' experiences with EoE.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Laboratory Animal Resource Center, Transborder Medical Research Center, Institute of Medicine, University of Tsukuba, Tsukuba 305-8575, Japan.
With the groundbreaking advancements in genome editing technologies, particularly CRISPR-Cas9, creating knockout mutants has become highly efficient. However, the CRISPR-Cas9 system introduces DNA double-strand breaks, increasing the risk of chromosomal rearrangements and posing a major obstacle to simultaneous multiple gene knockout. Base-editing systems, such as Target-AID, are safe alternatives for precise base modifications without requiring DNA double-strand breaks, serving as promising solutions for existing challenges.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Cardiology, Angiology and Intensive Care Medicine, Deutsches Herzzentrum der Charité (DHZC), Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.
The wearable cardioverter defibrillator (WCD) has emerged as a valuable tool used for temporary protection from sudden cardiac death. However, since the WCD uses surface electrodes to detect arrhythmias, it is susceptible to inappropriate detection. Although shock conversion rates for the WCD are reported to be high for detected events, its efficacy in clinical practice tends to be degraded by patient noncompliance.
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