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

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.

Medicine - 12 May 2023

Wu Xiao-Hui, Lin Shuang-Zhu, Liu Zhen-Xian, Qi Yang-Fan, Wang Wan-Qi, Li Jia-Yi, Chen Qian-Dui, Yang Lu-Lu

Abstract excerpt

BACKGROUND: TBL1XR1, also known as IRA1 or TBLR1, encodes a protein that is localized in the nucleus and is expressed in most tissues. TBL1XR1 binds to histones H2B and H4 in vitro and functions in nuclear receptor-mediated transcription. TBL1XR1 is also involved in the regulation of the Wnt-β-catenin signaling pathway. Mutations in the TBL1XR1 gene impair the Wnt-β-catenin signaling pathway's ability to recruit...

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 beta Catenin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Receptors, Cytoplasmic and Nuclear

Share to Repressor Proteins

Share to Spasms, Infantile

Share to Tremor

Source

Open in PubMed Open full text

Identifiers

PMID: 37171308
DOI: 10.1097/MD.0000000000033744
PMCID: PMC10174347

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.PMID 37171308Read ↗

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.Semantic proximity Read ↗

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.Semantic proximity Read ↗

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.Semantic proximity Read ↗

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.Semantic proximity Read ↗

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.Semantic proximity Read ↗

A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.Semantic proximity Read ↗

Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.Semantic proximity Read ↗

Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development.Semantic proximity Read ↗

Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.Semantic proximity Read ↗

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndromeSemantic proximity Read ↗

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.Semantic proximity Read ↗

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.Semantic proximity Read ↗

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