Article

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

2025-12-30

Abstract excerpt

<title>Abstract</title> Background Heterozygous variants in <italic>CTNND2</italic> , encoding the brain-specific protein δ-catenin, are associated with a broad spectrum of neurodevelopmental disorders, including dyslexia, attention deficit hyperactivity disorder, intellectual disability, and autism. Despite its clinical significance, the full phenotypic spectrum of <italic>CTNND2</italic> -associated d...

Topics

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

Identifiers and source

Literature Corpus work: b7e47cc7-4e13-5698-a1e3-bf11a521d980
DOI: 10.21203/rs.3.rs-8224288/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisDOI 10.21203/rs.3.rs-8224288/v1Read

CTNND2-a candidate gene for reading problems and mild intellectual disability.Semantic proximity Read

Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoidsSemantic proximity Read

Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndromeSemantic proximity Read

WNT/β-catenin dependant alteration of cortical neurogenesis in a human stem cell model of SETBP1 disorderSemantic proximity Read

Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases.Semantic proximity Read

Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.Semantic proximity Read

GABA/Glutamate neuron differentiation imbalance and increased AKT/mTOR signalling in CNTNAP2 -/- cerebral organoidsSemantic proximity Read

Third-generation whole-genome sequencing reveals the role of CNTNAP2 as a tumor suppressor gene in high-risk neuroblastomas.Semantic proximity Read

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathySemantic proximity Read

The emerging face of FOXG1 Syndrome: a rare, genetically defined neurodevelopmental disorder coming of age in the genomics era.Semantic proximity Read

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells.Semantic proximity Read

DLG2 knockout reveals neurogenic transcriptional programs underlying neuropsychiatric disorders and cognitionSemantic proximity Read