Article

Tatton-Brown-Rahman Syndrome-associated <i>DNMT3A</i> mutations de-repress cortical interneuron differentiation to disrupt neuronal network function

2025-06-25

Abstract excerpt

Pathogenic mutations in DNMT3A cause Tatton-Brown-Rahman Syndrome (TBRS), a disorder characterized by somatic overgrowth of multiple tissues including the brain and intellectual disability (OGID). Here, we investigated TBRS etiology using new human pluripotent stem cell models, modeling varying levels of TBRS-associated loss of DNMT3A function. We identified lineage-specific overgrowth in TBRS ventral forebrain me...

Topics

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

Identifiers and source

Literature Corpus work: 6b0e1590-ddc4-558f-9063-8e4ec1cd010d
DOI: 10.1101/2025.06.24.661324

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Tatton-Brown-Rahman Syndrome-associated <i>DNMT3A</i> mutations de-repress cortical interneuron differentiation to disrupt neuronal network functionDOI 10.1101/2025.06.24.661324Read

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsSemantic proximity Read

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.Semantic proximity Read

DNMT3A haploinsufficiency results in behavioral deficits and global epigenomic dysregulation shared across neurodevelopmental disordersSemantic proximity Read

Thyroid hormone promotes fetal neurogenesisSemantic proximity Read

MECP2T203M mutation disrupts neurogenesis in human cerebral organoids by altering chromatin dynamics and transcriptional regulation.Semantic proximity Read

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons.Semantic proximity Read

Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficitsSemantic proximity Read

Thyroid hormone promotes fetal neurogenesisSemantic proximity Read

A conserved differentiation program facilitates inhibitory neuron production in the developing mouse and human cerebellumSemantic proximity Read

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingSemantic proximity Read

Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.Semantic proximity Read

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.Semantic proximity Read