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

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Stem cell research - 1 Jul 2018

Alari Valentina, Russo Silvia, Terragni Benedetta, Ajmone Paola Francesca, Sironi Alessandra, Catusi Ilaria, Calzari Luciano, Concolino Daniela, Marotta Rosa, Milani Donatella, Giardino Daniela, Mantegazza Massimo, Gervasini Cristina, Finelli Palma, Larizza Lidia

Abstract excerpt

Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP and p300 lysine-acetyltransferases and transcriptional coactivators. No RSTS in vitro induced Pluripotent Stem Cell...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CREB-Binding Protein

Share to E1A-Associated p300 Protein

Share to Induced Pluripotent Stem Cells

Share to Neurons

Share to Rubinstein-Taybi Syndrome

Share to Young Adult

Source

Identifiers

PMID: 29883886
DOI: 10.1016/j.scr.2018.05.019

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.PMID 29883886Read ↗

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.Semantic proximity Read ↗

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndromeSemantic proximity Read ↗

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Semantic proximity Read ↗

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.Semantic proximity Read ↗

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Semantic proximity Read ↗

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.Semantic proximity Read ↗

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.Semantic proximity Read ↗

Rubinstein-Taybi syndrome (CREBBP, EP300).Semantic proximity Read ↗

Rubinstein-Taybi syndrome: clinical and molecular overview.Semantic proximity Read ↗

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.Semantic proximity Read ↗

EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Semantic proximity Read ↗

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.Semantic proximity Read ↗

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