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Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
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.
View Article and Find Full Text PDFProtocol for a systematic review and individual participant data meta-analysis for risk factors for lung cancer in individuals with lung nodules identified by low-dose CT screening.
BMJ Open
January 2025
Centre for Cancer Screening, Prevention and Early Diagnosis, Wolfson Institute of Population Health, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Background: Worldwide, lung cancer (LC) is the second most frequent cancer and the leading cause of cancer related mortality. Low-dose CT (LDCT) screening reduced LC mortality by 20-24% in randomised trials of high-risk populations. A significant proportion of those screened have nodules detected that are found to be benign.
View Article and Find Full Text PDFDistinct CSF α-synuclein aggregation profiles associated with Alzheimer's disease phenotypes and MCI-to-AD conversion.
J Prev Alzheimers Dis
February 2025
The ADNI is detailed in Supplemental Acknowledgments.
Background: α-Synuclein (α-Syn) pathology is present in 30-50 % of Alzheimer's disease (AD) patients, and its interactions with tau proteins may further exacerbate pathological changes in AD. However, the specific role of different aggregation forms of α-Syn in the progression of AD remains unclear.
Objectives: To explore the relationship between various aggregation types of CSF α-Syn and Alzheimer's disease progression.
Structure and assembly mechanisms of the microbial community on an artificial reef surface, Fangchenggang, China.
Appl Microbiol Biotechnol
January 2025
Key Laboratory of Marine Ranching, Ministry of Agriculture and Rural Affairs, China, South China Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Guangzhou, 510300, China.
The construction of artificial reefs (ARs) is an effective way to restore habitats and increase and breed fishery resources in marine ranches. However, studies on the impacts of ARs on the structure, function, and assembly patterns of the bacterial community (BC), which is important in biogeochemical cycles, are lacking. The compositions, diversities, assembly patterns, predicted functions, and key environmental factors of the attached and free-living microbial communities in five-year ARs (O-ARs) and one-year ARs (N-ARs) in Fangchenggang, China, were analyzed via 16S rRNA gene sequencing.
View Article and Find Full Text PDFPrioritizing implementation solutions for the urban family physician policy in Iran: a multi-criteria decision-making study.
BMC Health Serv Res
January 2025
Department of Health Policy and Management, School of Public Health and Safety, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Family physician program is one of the effective reforms of the health system in Iran, but despite the implementation of this program in rural areas and the passage of ten years since its implementation in two provinces of Fars and Mazandaran, its implementation has faced problems. The aim of this study is to identify and prioritize implementation solutions related to the challenges of the family physician program in Iran.
Methods: This is a qualitative study using semi-structured interviews with 22 snowball-sampled experts and managers of basic health insurers to extract problems and executive solutions through coding and data analysis using Atlas Ti software and content analysis in the first stage.
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