Back to search

Article

Non-coding structural variants identify a commonly affected regulatory region steering<i>FOXG1</i>transcription in early neurodevelopment

2025-03-11

Abstract excerpt

<h4>ABSTRACT</h4> The FOXG1 transcription factor is a crucial regulator of embryonic brain development. Pathogenic FOXG1 variants cause FOXG1 syndrome. Although structural variants (SVs) in the non-coding region downstream of FOXG1 have been reported in 38 individuals with similar characteristics, the regulatory pathomechanisms remain unknown. We identified a de novo non-coding deletion in an individual with FOXG1...

Topics

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

Identifiers and source

Literature Corpus work
b5e72ddd-9524-5414-add2-4b39a4a50a7c
DOI
10.1101/2025.03.10.25323301
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Non-coding structural variants identify a commonly affected regulatory region steering<i>FOXG1</i>transcription in early neurodevelopmentDOI 10.1101/2025.03.10.25323301
Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, <i>FOXG1</i>Semantic proximity
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersSemantic proximity
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevanceSemantic proximity
<i>cis</i> -Regulatory Chromatin Contacts in Neural Cells Reveal Contributions of Genetic Variants to Complex Neurological DisordersSemantic proximity
An integrated framework for functional dissection of variable expressivity in genetic disordersSemantic proximity
Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal <i>Cis</i> -Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic VariationSemantic proximity
A Chromatin Accessibility Atlas of the Developing Human TelencephalonSemantic proximity
Bridging between mouse and human enhancer-promoter long-range interactions in neural stem cells, to understand enhancer function in neurodevelopmental diseaseSemantic proximity
Regulatory<i>de novo</i>mutations underlying intellectual disabilitySemantic proximity
<i>De novo</i> variants in population constrained fetal brain enhancers and intellectual disabilitySemantic proximity
A Chromatin Accessibility Atlas of the Developing Human Telencephalon.Semantic proximity
CHD8 Regulates Cellular Homeostasis and Neuronal Function Genes Across Multiple Models of <i>CHD8</i> HaploinsufficiencySemantic proximity
Select a neighboring publication to make it the new centre.