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Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
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Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
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Advancing a Healthier Wisconsin Endowment, Medical College of Wisconsin, Milwaukee, WI, USA.
Medical devices significantly enhance healthcare by integrating advanced technology to improve patient outcomes. Ensuring their safety and reliability requires a delicate balance between innovation and rigorous oversight, managed through the collaborative efforts of standards development organizations, standards accrediting organizations, and regulatory agencies such as the U.S.
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View Article and Find Full Text PDFThe 18 Workshop on Recent Issues in Bioanalysis (18 WRIB) took place in San Antonio, TX, USA on May 6-10, 2024. Over 1100 professionals representing pharma/biotech companies, CROs, and multiple regulatory agencies convened to actively discuss the most current topics of interest in bioanalysis. The 18 WRIB included 3 Main Workshops and 7 Specialized Workshops that together spanned 1 week to allow an exhaustive and thorough coverage of all major issues in bioanalysis of biomarkers, immunogenicity, gene therapy, cell therapy and vaccines.
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