Article

Developmental effect of RASopathy mutations on neuronal network activity on a chip

2023-09-22

Abstract excerpt

RASopathies are a group of genetic disorders caused by mutations in genes encoding components and regulators of the RAS/MAPK signaling pathway, resulting in overactivation of signaling. RASopathy patients exhibit distinctive facial features, cardiopathies, growth and skeletal abnormalities, and varying degrees of developmental delay, neurocognitive impairment, intellectual disabilities, and attention deficits. At...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5b7e5e0d-85d6-504d-81b0-4559cdebfd8f
DOI: 10.1101/2023.09.20.558464

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Developmental effect of RASopathy mutations on neuronal network activity on a chipDOI 10.1101/2023.09.20.558464Read

Pyramidal neurons form active, transient, multilayered circuits perturbed by autism-associated mutations at the inception of neocortex.Semantic proximity Read

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutationsSemantic proximity Read

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.Semantic proximity Read

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.Semantic proximity Read

Single Cell transcriptional analysis of <i>ex vivo</i> models of cortical and hippocampal development identifies unique longitudinal trendsSemantic proximity Read

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-causing mutationsSemantic proximity Read

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.Semantic proximity Read

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activitySemantic proximity Read

Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cerebral organoidsSemantic proximity Read

Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cortical organoids.Semantic proximity Read

Trisomy 21 Impairs Synchronized Activity in Human Down Syndrome Cortical Excitatory Neuron NetworksSemantic proximity Read

Hyperexcitability in human <i>MECP2</i> null neuronal networks manifests as calcium-dependent reverberating super burstsSemantic proximity Read