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

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.

Gene - 30 Nov 2023

Ren Mingyue, Zheng Hong, Lu Xiangpeng, Lian Wenjun, Feng Bin

Abstract excerpt

BACKGROUND: The TBL1XR1 gene encodes the protein transducin-beta-like 1 receptor1, widely distributed in the pituitary, hypothalamus, white and brown adipose tissue, muscle, and liver. Current evidence suggests that heterozygous TBL1XR1 pathogenic variants can lead to a wide spectrum of phenotypes. This study aims to reveal the clinical phenotype and genetic profiles of de novo TBL1XR1 variations and summarize...

Read the complete abstract on PubMed

Topics

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

Share to Heterozygote
Share to Adipose Tissue, Brown
Share to Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Phenotype

Share to Receptors, Cytoplasmic and Nuclear

Share to Repressor Proteins

Source

Identifiers

PMID: 37683765
DOI: 10.1016/j.gene.2023.147777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.PMID 37683765Read ↗

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

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

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

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

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.Semantic proximity Read ↗

Phenotypic spectrum associated with de novo mutations in QRICH1 gene.Semantic proximity Read ↗

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

De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.Semantic proximity Read ↗

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.Semantic proximity Read ↗

A de novo mutation affecting human TrkB associated with severe obesity and developmental delaySemantic proximity Read ↗

MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.Semantic proximity Read ↗

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