Substantial evidence suggests that chromosomal abnormalities contribute to the risk of autism. The duplication of human chromosome 15q11-q13 is known to be the most frequent cytogenetic abnormality observed in autism. We replicate this genetic abnormality in mice by using chromosome engineering to generate a 6.3 Mb duplication of the conserved linkage group on mouse chromosome 7. Mice with paternal duplication showed poor social interaction, behavioral inflexibility, abnormal ultrasonic vocalizations, and correlates of anxiety. This chromosome-engineered mouse model for autism seems to replicate various aspects of human autistic phenotypes and validates the relevance of the human chromosomal abnormality. This model will help in understanding the genetics of developmental brain disorders and thereby serve as an invaluable tool for therapeutic development.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Near-Infrared Fluorescent Probe for Simultaneously Imaging Ferrous Ions and Viscosity in a Mouse Model of Hepatocellular Carcinoma.
Anal Chem
January 2025
College of Chemistry, Central China Normal University, 152 Luoyu Road, Wuhan 430079, China.
Abnormal ferrous ion (Fe) levels lead to an increase in reactive oxygen species (ROS) in cells, disrupting intracellular viscosity and the occurrence of hepatocellular carcinoma (HCC). Simultaneously visualizing Fe and intracellular viscosity is essential for understanding the detailed pathophysiological processes of HCC. Herein, we report the first dual-responsive probe, , capable of simultaneously monitoring Fe and viscosity.
View Article and Find Full Text PDFBi-targeting of thioredoxin 1 and telomerase by thiotert promotes cell death of myelodysplastic syndromes and lymphoma.
Biol Direct
January 2025
Department of Clinical Laboratory, Affiliated Hangzhou First People's Hospital, School of Medicine, Westlake University, Hangzhou, Zhejiang, China.
Thioredoxin1 (TRX1) and telomerase are both attractive oncology targets that are tightly implicated in tumor initiation and development. Here, we reported that the 6-dithio-2-deoxyguanosine analog thiotert exhibits an effective cytotoxic effect on myelodysplastic syndromes (MDS) cell SKM-1 and lymphoma cell U-937. Further studies confirmed that thiotert effectively disrupts cellular redox homeostasis, as evidenced by elevated intracellular reactive oxygen species (ROS) levels, increased MnSOD, accelerated DNA impairment, and activated apoptosis signal.
View Article and Find Full Text PDFEffects of Cirsium japonicum var. maackii on avelliation of metabolic disease by improving insulin resistance.
Lab Anim Res
January 2025
Department of Laboratory Animal Medicine, College of Veterinary Medicine, Jeonbuk National University, The 1st Veterinary R&D Building Rm 301, 79 Gobong-ro, Iksan-si, Jeollabuk-do, 54596, Republic of Korea.
Background: Metabolic syndrome (MetS) refers to a group of risk factors that cause health problems, such as obesity, diabetes, dyslipidemia, and hyperglycemia. MetS is characterized by insulin resistance, which leads to abnormal insulin sensitivity. Cirsium japonicum var.
View Article and Find Full Text PDFLipid-encapsulated gold nanoparticles: an advanced strategy for attenuating the inflammatory response in SARS-CoV-2 infection.
J Nanobiotechnology
January 2025
Graduate School of Biotechnology, and College of Life Science, Kyung Hee University, Yongin-Si, 17104, Gyeonggi-Do, Republic of Korea.
Background: Nanodrugs play a crucial role in biomedical applications by enhancing drug delivery. To address safety and toxicity concerns associated with nanoparticles, lipid-nanocarrier-based drug delivery systems have emerged as a promising approach for developing next-generation smart nanomedicines. Ginseng has traditionally been used for various therapeutic purposes, including antiviral activity.
View Article and Find Full Text PDFSignatures of H3K4me3 modification predict cancer immunotherapy response and identify a new immune checkpoint-SLAMF9.
Respir Res
January 2025
Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.
H3 lysine 4 trimethylation (H3K4me3) modification and related regulators extensively regulate various crucial transcriptional courses in health and disease. However, the regulatory relationship between H3K4me3 modification and anti-tumor immunity has not been fully elucidated. We identified 72 independent prognostic genes of lung adenocarcinoma (LUAD) whose transcriptional expression were closely correlated with known 27 H3K4me3 regulators.
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!