A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.

doi:10.1016/j.ajhg.2024.03.012

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

Community

Back to search

Article

A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.

American journal of human genetics - 2 May 2024

Funato Noriko, Heliövaara Arja, Boeckx Cedric

Abstract excerpt

Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive morphology of Homo sapiens remains challenging. Here, we report a noncoding single-nucleotide polymorphism (SNP), rs41298798, as a potential causal variant contributing to the morphology of the skull base and vertebral structures found in Homo sapiens....

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DiGeorge Syndrome

Share to Mice

Share to Mice, Knockout

Share to Neanderthals

Share to Skull

Share to Spine

Share to T-Box Domain Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 38608674
DOI: 10.1016/j.ajhg.2024.03.012
PMCID: PMC11080286

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 regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.PMID 38608674Read ↗

Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.Semantic proximity Read ↗

Modern human changes in regulatory regions implicated in cortical developmentSemantic proximity Read ↗

Modern human changes in regulatory regions implicated in cortical development.Semantic proximity Read ↗

A conserved regulatory atlas reveals enhancers critical for mouse and human gonadal developmentSemantic proximity Read ↗

Genes Affecting Vocal and Facial Anatomy Went Through Extensive Regulatory Divergence in Modern HumansSemantic proximity Read ↗

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical FeaturesSemantic proximity Read ↗

Regulatory mutants of the Tbx1 gene alter transcription programs of lineage determination and patterning in early mesodermSemantic proximity Read ↗

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.Semantic proximity Read ↗

The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lungSemantic proximity Read ↗

Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6).Semantic proximity Read ↗

Knocking-out the human face genes TBX15 and PAX1 in mice alters facial and other physical morphologySemantic proximity Read ↗

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