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The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.
Cell Rep
January 2025
Department of Neurological Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; The Brain Tumor Center, Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Mutation or deletion of the deubiquitinase USP7 causes Hao-Fountain syndrome (HAFOUS), which is characterized by speech delay, intellectual disability, and aggressive behavior and highlights important unknown roles of USP7 in the nervous system. Here, we conditionally delete USP7 in glutamatergic neurons in the mouse forebrain, triggering disease-relevant phenotypes, including sensorimotor deficits, impaired cognition, and aggressive behavior. Although USP7 deletion induces p53-dependent neuronal apoptosis, most behavioral abnormalities in USP7 conditional knockout mice persist following p53 loss.
View Article and Find Full Text PDFBackground: The burden of hospital-acquired infections (HAIs) equates to 3.5 million cases, resulting in more than 90 000 deaths and 2.5 million disability-adjusted life years (DALYs) across Europe.
View Article and Find Full Text PDFDevelopment of START, a novel multimedia-based symptom appraisal tool for autoimmune rheumatic diseases.
Rheumatology (Oxford)
January 2025
Department of Rheumatology and Immunology, Singapore General Hospital, Singapore.
Objectives: To facilitate earlier diagnosis of autoimmune rheumatic diseases (ARDs), we aimed to 1) develop START, a novel multimedia-based symptom appraisal tool for ARDs and 2) pilot test START among established ARD cases and non-ARD controls.
Methods: We developed START using a social cognitive theory-based theoretical framework and consensus-based lists of ARDs and manifestations from our previous work. START was revised through reviews by an expert panel of rheumatologists and cognitive debriefing interviews (CDIs) with patients newly referred for assessment of ARDs.
Association Between Early Childhood P300 Deficits and Risk for Preadolescence Depressive Disorder Mediated by Responsiveness to PCIT-ED Treatment.
Res Child Adolesc Psychopathol
January 2025
School of Education and Counseling Psychology, Santa Clara University, Santa Clara, CA, USA.
Preschool-onset major depressive disorder (PO-MDD) is an impairing pediatric mental health disorder that impacts children as young as three years old. There is limited work dedicated to uncovering neural measures of this early childhood disorder which could be leveraged to further understand both treatment responsiveness and future depression risk. Event-related potentials (ERPs) such as the P300 have been employed extensively in adult populations to examine depression-related deficits in cognitive and motivational systems.
View Article and Find Full Text PDFThe use of multiple evidence base methods to enrich climate change research and knowledge in the Arctic.
Ambio
January 2025
Department of Arctic and Marine Biology, UiT Arctic University of Norway, Alta, Norway.
Indigenous and local knowledge (ILK) is increasingly used along with scientific knowledge (SK) to understand climate change. The multi evidence base (MEB) offers ways of combining knowledge systems together. Nonetheless, there is little guidance on how to use MEB approaches in research.
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