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Childhood heart disease and parental emotional wellbeing: a predictive model to explain the perception of quality of life in children and adolescents.
Health Qual Life Outcomes
January 2025
Department of Human Sciences, LUMSA University, Rome, 00193, Italy.
Background: The number of people living with congenital heart disease (CHD) in 2017 was estimated to be 12 million, which was 19% higher than that in 1990. However, their death rate declined by 35%, emphasizing the importance of monitoring their quality of life due to its impact on several patient outcomes. The main objective of this study is to analyze how parents' psychosocial factors contribute to children's and adolescents' perceptions of their QoL, focusing on their medical condition.
View Article and Find Full Text PDFIdentification of immune suppressor candidates utilizing comparative transcriptional profiling in histiocytic sarcoma.
Cancer Immunol Immunother
January 2025
Department of Clinical Sciences and Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Histiocytic sarcoma (HS) is a rare yet lethal malignancy with no established standard of care therapies. A lack of pre-clinical models limits our understanding of HS pathogenesis and identification of therapeutic targets. Canine HS shares multiple clinical and genetic similarities with human HS, supporting its use as a unique translational model.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of Michigan Medical School, Ann Arbor, MI, USA.
Background: The transfer of mitochondrial DNA into the nuclear genomes of eukaryotes (Numts) has been linked to lifespan in non-human species and recently demonstrated to occur in rare instances from one human generation to the next.
Method: Here we investigated numtogenesis dynamics in humans in two ways. First, we quantified Numts in 1,187 post-mortem brain and blood samples from different individuals.
Background: Corticobasal syndrome (CBS) corresponds to a clinical phenotype with heterogeneous neuropathology, including corticobasal degeneration (CBD), progressive supranuclear palsy (PSP), Alzheimer's disease (AD), and synucleinopathies such as Lewy Body Disease (LBD), in rare cases. Previous reports of CBS-LBD describe patients with diffuse LBD, a younger age of onset and occasionally lacking core features like REM sleep Behavior Disorder (RBD).
Method: We present a young patient with CBS who had a rapid progression and was found to have a high burden of limbic LBD and high AD co-pathology at autopsy.
SiCLAT: simultaneous imaging of chromatin loops and active transcription in living cells.
Genome Biol
January 2025
State Key Laboratory for Complex, Severe, and Rare Diseases, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.
We present SiCLAT, which introduces a dCas9-dCas13d cassette into the mouse genome. This model enables the stable expression of both dCas9 and dCas13 proteins in diverse cell populations, facilitating concurrent labeling of DNA and RNA across various cell types. Using SiCLAT, we accurately labeled chromatin loop anchor interactions and associated gene transcription during myogenic differentiation.
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