PDGFRA, KIT, and KDR Gene Amplification in Glioblastoma: Heterogeneity and Clinical Significance

Brain Glioblastoma PDGFRA, KIT and KDR Gene Amplification: Heterogeneity and Its Clinical Significance Academic Background Glioblastoma (GBM) is the most common malignant tumor of the central nervous system, with its heterogeneity posing significant challenges in treatment. GBM exhibits cellular genetic and phenotypic diversity not only between dif...

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Correlation between Erf Gene Loss-of-Function Variants and Noonan Syndrome-like Phenotype - With or Without Craniosynostosis Research Background Members of the ETS transcription factor family play a crucial role in RAS-MAPK signal transduction, regulating the expression of “early response” genes and other functionally related genes. Among them, ETS...

Application of Gene Therapy in Focal Cortical Dysplasia

New Gene Therapy Approach May Control Epileptic Seizures Caused by Focal Cortical Dysplasia Focal Cortical Dysplasia (FCD) is a type of disorder caused by abnormal cortical development, often accompanied by drug-resistant epilepsy and cognitive and behavioral disorders. According to the classification criteria proposed by Najm et al. in 2022 for th...

MERTK Reduces Blood-Spinal Cord Barrier Permeability Through the RhoA/ROCK1/P-MLC Pathway After Spinal Cord Injury

Study on MERTK Reducing Blood-Spinal Cord Barrier Permeability after Spinal Cord Injury via RhoA/ROCK1/p-MLC Pathway Spinal Cord Injury (SCI) is a central nervous system disease caused by trauma, inflammation, tumors, or other pathological reasons, resulting in sensory, motor, and autonomic nervous system dysfunction in patients, imposing a heavy b...

Mapping the Behavioral Signatures of Shank3B Mice in Both Sexes

Behavioral Characterization of Shank3B Mice Across Both Sexes Research Background Autism Spectrum Disorder (ASD) is a group of complex mental disorders characterized by abnormalities in social interaction and repetitive behaviors. The Shank3B mutant ASD mouse model is widely used in research; however, the behavioral phenotype of this model has not ...