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Anatomical Variations of the Vermiform Appendix.
Acta Med Acad
December 2024
Department of Anatomy, Medical School, National and Kapodistrian University of Athens, Greece; Research and Education Institute in Biomedical Sciences, Piraeus Athens, Greece.
Objective: The aim of the present work is to systematically review and present the existing literature on anatomical variations of the appendix.
Methods: Detailed research was conducted in the PubMed medical database, using the terms "Appendix" AND "Anatomical variations", and 74 articles were initially revealed. After the application of the inclusion and exclusion criteria, all the non-related articles were excluded, and thus 40 articles were finally selected.
Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Pharmacogenomic diplotyping of complex genes requires full-length DNA sequences and detection of structural rearrangements. We introduce StarPhase, a tool that leverages PacBio HiFi sequence data to diplotype 21 CPIC Level A pharmacogenes and provides detailed haplotypes and supporting visualizations for HLA-A, HLA-B, and CYP2D6.
View Article and Find Full Text PDFMutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays.
Brain Commun
November 2024
Department of Neurodegenerative Disease, Huntington's Disease Centre, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Huntington's disease is an inherited neurodegenerative disorder caused by a CAG repeat expansion that encodes a polyglutamine tract in the huntingtin (HTT) protein. The mutant CAG repeat is unstable and expands in specific brain cells and peripheral tissues throughout life. Genes involved in the DNA mismatch repair pathways, known to act on expansion, have been identified as genetic modifiers; therefore, it is the rate of somatic CAG repeat expansion that drives the age of onset and rate of disease progression.
View Article and Find Full Text PDFDNA nanotechnology-based strategies for minimising hybridisation-dependent off-target effects in oligonucleotide therapies.
Mater Horiz
December 2024
Laboratory of Advanced Theranostic Materials and Technology, Ningbo Institute of Materials Technology and Engineering, Chinese Academy of Sciences, Ningbo, China.
Targeted therapy has emerged as a transformative breakthrough in modern medicine. Oligonucleotide drugs, such as antisense oligonucleotides (ASOs) and small interfering RNAs (siRNAs), have made significant advancements in targeted therapy. Other oligonucleotide-based therapeutics like clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein (Cas) systems are also leading a revolution in targeted gene therapy.
View Article and Find Full Text PDFNeoadjuvant Pembrolizumab in Stage I-III Deficient Mismatch Repair Colon Cancer: A Clinical Trial.
Ann Surg
December 2024
Department of Oncology, Rigshospitalet, Copenhagen, Denmark.
Objective: This clinical trial investigated the safety and efficacy of single-cycle pembrolizumab in patients with localized deficient mismatch repair (dMMR) colon cancer.
Background: Neoadjuvant immunotherapy has induced remarkable rates of pathological complete response in patients with dMMR colon cancer. However, the optimal length and type of treatment are yet to be determined.
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