Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders.

Science advances - 1 Dec 2023

López-Tobón Alejandro, Shyti Reinald, Villa Carlo Emanuele, Cheroni Cristina, Fuentes-Bravo Patricio, Trattaro Sebastiano, Caporale Nicolò, Troglio Flavia, Tenderini Erika, Mihailovich Marija, Skaros Adrianos, Gibson William T, Cuomo Alessandro, Bonaldi Tiziana, Mercurio Ciro, Varasi Mario, Osborne Lucy, Testa Giuseppe

Abstract excerpt

Copy number variations at 7q11.23 cause neurodevelopmental disorders with shared and opposite manifestations. Deletion causes Williams-Beuren syndrome featuring hypersociability, while duplication causes 7q11.23 microduplication syndrome (7Dup), frequently exhibiting autism spectrum disorder (ASD). Converging evidence indicates GTF2I as key mediator of the cognitive-behavioral phenotypes, yet its role in cortical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Cell Differentiation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Histone Demethylases

Share to Mice, Transgenic

Share to Proteomics

Share to Social Behavior

Share to Transcription Factors, TFII

Source

Open in PubMed Open full text

Identifiers

PMID: 38019906
DOI: 10.1126/sciadv.adh2726
PMCID: PMC10686562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders.PMID 38019906Read ↗

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disordersSemantic proximity Read ↗

Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.Semantic proximity Read ↗

Cortical Organoids Model Early Brain Development Disrupted by 16p11.2 Copy Number Variants in AutismSemantic proximity Read ↗

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.Semantic proximity Read ↗

Patient brain organoids identify a link between the 16p11.2 copy number variant and the <i>RBFOX1</i> geneSemantic proximity Read ↗

Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genesSemantic proximity Read ↗

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.Semantic proximity Read ↗

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific ExpressionSemantic proximity Read ↗

Aberrant pace of cortical neuron development in brain organoids from patients with 22q11.2 deletion syndrome-associated schizophreniaSemantic proximity Read ↗

<i>DLG2</i> knockout reveals neurogenic transcriptional programs underlying neuropsychiatric disorders and cognitionSemantic proximity Read ↗

7q11.23 CNV alters protein synthesis and REST-mediated neuronal intrinsic excitabilitySemantic proximity Read ↗

Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.