A5110984683- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- NF-κB Signaling Pathways
- FOXO transcription factor regulation
- MicroRNA in disease regulation
- Neurogenesis and neuroplasticity mechanisms
University at Buffalo, State University of New York
2023-2025
Institute of Electrical and Electronics Engineers
2021
Gorgias Press (United States)
2021
Robotics Research (United States)
2021
Single allelic mutations in the forebrain-specific transcription factor gene FOXG1 lead to syndrome (FS). To decipher disease mechanisms of FS, which vary depending on mutation types, patient-specific animal models are critical. Here, we report first FS mouse model, Q84Pfs heterozygous (Q84Pfs-Het) mice, emulates one most predominant variants. Remarkably, Q84Pfs-Het mice recapitulate various human phenotypes across cellular, brain structural, and behavioral levels, such as microcephaly,...
Single allelic mutations in the FOXG1 gene lead to syndrome (FS). To understand pathophysiology of FS, which vary depending on mutation types, patient-specific animal models are critical. Here, we report a Q84Pfs heterozygous (Q84Pfs-Het) mouse model, recapitulates various FS phenotypes across cellular, brain structural, and behavioral levels. Q84Pfs-Het cortex shows dysregulations genes controlling cell proliferation, neuronal projection migration, synaptic assembly, vesicle transport. The...
Heterozygous mutations in the FOXG1 gene manifest as syndrome, a severe neurodevelopmental disorder characterized by structural brain anomalies, including agenesis of corpus callosum, hippocampal reduction, and myelination delays. Despite well-defined genetic basis therapeutic interventions targeting underlying cause are nonexistent. In this study, we explore potential adeno-associated virus 9 (AAV9)-mediated delivery gene. Remarkably, intracerebroventricular injection AAV9-FOXG1 to Foxg1...
Single allelic mutations in the gene encoding forebrain-specific transcription factor FOXG1 lead to syndrome (FS). Patient-specific animal models are needed understand etiology of FS, as FS patients show a wide spectrum symptoms correlated with location and mutation type gene. Here we report first patient-specific mouse model, Q84Pfs heterozygous (Q84Pfs-Het) mice, mimicking one most predominant single nucleotide variants FS. Intriguingly, found that Q84Pfs-Het mice faithfully recapitulate...