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| http://dx.doi.org/10.1111/pbi.13259 | DOI Listing |
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As the toolbox of base editors (BEs) expands, selecting appropriate BE and guide RNA (gRNA) to achieve optimal editing efficiency and outcome for a given target becomes challenging. Here, we construct a set of 10 adenine and cytosine BEs with high activity and broad targeting scope, and comprehensively evaluate their editing profiles and properties head-to-head with 34,040 BE-gRNA-target combinations using genomically integrated long targets and tiling gRNA strategies. Interestingly, we observe widespread non-canonical protospacer adjacent motifs (PAMs) for these BEs.
View Article and Find Full Text PDFClinical characteristics of the Ala21Val variant in the myelin proteolipid protein 1 (PLP1) gene associated with Pelizaeus-Merzbacher disease in a Brazilian male patient.
Hum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFHierarchical architecture of neo-sex chromosomes and accelerated adaptive evolution in tortricid moths.
Genome Res
January 2025
Institute of Plant Protection, Beijing Academy of Agriculture and Forestry Sciences, Beijing 100097, China;
Sex chromosomes can expand through fusion with autosomes, thereby acquiring unique evolutionary patterns. In butterflies and moths (Lepidoptera), these sex chromosome-autosome (SA) fusions occur relatively frequently, suggesting possible evolutionary advantages. Here, we investigated how SA fusion affects chromosome features and molecular evolution in leafroller moths (Lepidoptera: Tortricidae).
View Article and Find Full Text PDFEquity and the operational considerations of the kidney transplant allocation system.
Curr Opin Organ Transplant
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Division of Nephrology, Department of Medicine, Vagelos College of Physicians & Surgeons.
Purpose Of Review: Demonstrate the impact of allocation system design on access to the waitlist and transplantation for patients with end-stage kidney disease (ESKD).
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Strengthening tobacco control research: key factors impacting policy outcomes and health equity.
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January 2025
NYU Grossman School of Medicine, New York, NY, United States.
In this policy brief, we explore several potential drivers of heterogeneity in policy outcomes that can be examined in tobacco control policy evaluations, expanding the evidence base to contribute to continued, equitable progress in reducing tobacco-related health outcomes. We discuss these factors in the context of a hypothetical evaluation of the impact of smoke-free laws on current smoking and quit attempts in the Tobacco Nation. Despite a similar policy environment within the Tobacco Nation, there is variation in the strength of smoke-free law coverage across states.
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