Topic: in utero electroporation

Embryonal Tumors with Multilayered Rosettes (ETMR) are a diverse and rare, but highly aggressive, form of embryonal brain tumors. All ETMRs share common histological and transcriptomic traits such as the presence of highly proliferative rosettes and aberrations on relevant miRNAs signaling pathways, including depletion of let-7 family miRNAs and increased Lin28A expression. Two different genetic alterations have been found to underlie ETMR tumors: amplification of the C19MC microRNA cluster, and biallelic Dicer1 inactivating mutations. Remarkably, a faithful animal model recapitulating this pa

Neurons receive correlated levels of excitation and inhibition, a feature that is important for proper brain function. In fact, a dysregulation in the balance between excitation and inhibition has been linked to many neurodevelopmental disorders, including autism, schizophrenia, and epilepsy. However, how this relationship between excitatory and inhibitory inputs is established during the dynamic period of circuit wiring remains unexplored. Using multiple techniques, including in utero electroporation, electron microscopy and electrophysiology, we reveal a tight correlation in the distribution

Pathogenic variants in DCX on the X chromosome lead to lissencephaly and subcortical band heterotopia (SBH), brain malformations caused by neuronal migration defects. Doublecortin (DCX) binds to microtubules to modulate microtubule polymerization. How pathogenic DCX variants affect these activities remains not fully investigated. Our aim is to examine whether these variants affect microtubule binding and dynamics and develop a verification tool to apply on clinical research. DCX variants were identified using whole exome and Sanger sequencing from six families with lissencephaly/SBH. We examin

Periventricular heterotopia (PH) is a cortical malformation characterized by misplaced neurons adjacent to the lateral ventricles, commonly associated with epilepsy. It is genetically diverse, and its underlying mechanisms are not fully understood. While recent research suggests that neuronal differentiation can also be affected, it has traditionally been considered a neuronal migration disorder, supported by the identification of mutations in neuronal-enriched cytoskeletal genes. Furthermore, it is still unclear why only some neurons are affected in this condition, while the majority of other

The SWI/SNF (BAF) complex regulates gene transcription through chromatin remodeling, with SMARCA2 (BRM) serving as a core ATP hydrolysis enzyme subunit in this complex. Clinical cases have revealed that mutations in SMARCA2 (BRM) lead to Nicolaides-Baraitser syndrome, causing symptoms such as cortical dysplasia, corpus callosum agenesis, intellectual disability, and epilepsy. However, the pathogenic mechanisms of SMARCA2 (BRM) in neurodevelopment remain unclear. In this study, we hypothesize SMARCA2(BRM) mutation impairs the neural development through altering the chromatin remodeling of the S