Article

TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons

2023-01-20

Abstract excerpt

Genetic variation in the transcription factor 4 ( TCF4) gene is associated with risk for a variety of developmental and psychiatric conditions, which includes a syndromic form of ASD called Pitt Hopkins Syndrome (PTHS). TCF4 encodes an activity-dependent transcription factor that is highly expressed during cortical development and in animal models is shown to regulate various aspects of neuronal development and...

Topics

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

Identifiers and source

Literature Corpus work: e518b0cc-a4ea-5b1b-875e-b0ba57c9d2f8
DOI: 10.1101/2023.01.19.524788

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neuronsDOI 10.1101/2023.01.19.524788Read

TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons.Semantic proximity Read

Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4.Semantic proximity Read

Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the density and connectivity of distinct inhibitory interneuron subtypes.Semantic proximity Read

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.Semantic proximity Read

<i>Tcf4</i> encodescortical differentiation during developmentSemantic proximity Read

Autism spectrum disorder risk genes have convergent effects on transcription and neuronal firing patterns in primary neurons.Semantic proximity Read

Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers.Semantic proximity Read

Transcriptional regulation of schizophrenia risk gene TCF4 in inhibitory neurons during neurodevelopmentSemantic proximity Read

Identification of a transcriptional signature found in multiple models of ASD and related disordersSemantic proximity Read

Evaluation of Na <sub>v</sub> 1.8 as a therapeutic target for Pitt Hopkins SyndromeSemantic proximity Read

Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk.Semantic proximity Read

Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.Semantic proximity Read