Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
PMP2+ Schwann cells maintain the survival of large-caliber motor axons.
J Neurosci
January 2025
Department of Developmental Biology, Washington University School of Medicine, St. Louis, Missouri, 63110, USA.
Neurodegenerative diseases of both the central and peripheral nervous system are characterized by selective neuronal vulnerability, i.e., pathology that affects particular types of neurons.
View Article and Find Full Text PDFSystematic Literature Review on Public Health Impacts of Persistent Tic Disorders: Health Care Needs and Health Care Use.
Psychiatr Clin North Am
March 2025
Applied Research and Evaluation Team, Division of Human Development and Disability, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC), 4770 Buford Hwy S106-4, Atlanta, GA 30341, USA.
This study describes our systematic literature review documenting outcomes associated with persistent tic disorders (PTDs) and summarizes 15 articles comparing health care use between individuals with PTDs and a comparison group without PTDs. Only 2 studies included adults and only one study stratified findings by sociodemographic characteristics, precluding conclusions on health care disparities. Most children with PTDs had access to routine care, similar to children without PTDs, but needed and used more specialty health care, including mental health services, compared to children without PTDs.
View Article and Find Full Text PDFAdult bi-paternal offspring generated through direct modification of imprinted genes in mammals.
Cell Stem Cell
January 2025
State Key Laboratory of Organ Regeneration and Reconstruction, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China; University of Chinese Academy of Sciences, Beijing 100049, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China; Bejing Institute for Stem Cell and Regenerative Medicine, Beijing 100101, China. Electronic address:
Imprinting abnormalities pose a significant challenge in applications involving embryonic stem cells, induced pluripotent stem cells, and animal cloning, with no universal correction method owing to their complexity and stochastic nature. In this study, we targeted these defects at their source-embryos from same-sex parents-aiming to establish a stable, maintainable imprinting pattern de novo in mammalian cells. Using bi-paternal mouse embryos, which exhibit severe imprinting defects and are typically non-viable, we introduced frameshift mutations, gene deletions, and regulatory edits at 20 key imprinted loci, ultimately achieving the development of fully adult animals, albeit with a relatively low survival rate.
View Article and Find Full Text PDFSequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFPreterm Neonates Exhibit a "Catch-Up" Pattern in Motor Development During the Neonatal Period: A Diffusion Tensor Imaging Study.
Pediatr Neurol
January 2025
Department of Radiology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China; Shaanxi Engineering Research Center of Computational Imaging and Medical Intelligence, Xi'an, China. Electronic address:
Background: Preterm infants are at high risk for subsequent neurodevelopmental disability. Early developmental characterization of brain and neurobehavioral function is critical for identifying high-risk infants. This study aimed to elucidate the early evolution of sensorimotor function in preterm neonates by exploring postnatal age-related changes in the brain white matter (WM) and neurobehavioral abilities.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!