Pitt-Hopkins Syndrome Latest Advances

Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention.

Journal: bioRxiv : the preprint server for biology

Published: January 09, 2026

Gastric volvulus and wandering spleen in Pitt-Hopkins syndrome: first paediatric case report.

Journal: Frontiers in pediatrics

Published: September 15, 2025

Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.

Journal: Translational science of rare diseases

Published: August 18, 2025

Characterization of astrocyte density in the Pitt-Hopkins Syndrome mouse model of ASD.

Journal: bioRxiv : the preprint server for biology

Published: July 17, 2025

High prevalence of eosinophilic esophagitis and hypogammaglobulinemia in patients with Pitt-Hopkins syndrome.

Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

Published: July 01, 2025

Transcription factor 4 regulates the interhemispheric midline remodeling through neuron-astroglia communications during corpus callosum formation.

Journal: Translational psychiatry

Published: May 05, 2025

Monogenic defects in Russian children with autism spectrum disorders.

Journal: World journal of clinical pediatrics

Published: April 23, 2025

An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.

Journal: Cell communication and signaling : CCS

Published: April 22, 2025

Repurposing nicardipine leads to improved development in a young patient with Pitt-Hopkins syndrome.

Journal: Frontiers in pharmacology

Published: March 11, 2025

Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.

Journal: Clinical dysmorphology

Published: February 13, 2025

The E-protein Daughterless regulates olfactory learning of adult Drosophila melanogaster.

Journal: eNeuro

Published: January 28, 2025

The molecular properties of the bHLH TCF4 protein as an intrinsically disordered hub transcription factor.

Journal: Cell communication and signaling : CCS

Published: January 27, 2025