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

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.

Human molecular genetics - 15 Jan 2015

Funato Noriko, Nakamura Masataka, Richardson James A, Srivastava Deepak, Yanagisawa Hiromi

Abstract excerpt

T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates. Here, we report that the loss of Tbx1 in mouse (Tbx1(-/-)) results in skeletal abnormalities similar to those of cleidocranial dysplasia (CCD) in humans, which is an autosomal-dominant...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Cell Differentiation
Share to Cleidocranial Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Core Binding Factor Alpha 1 Subunit

Share to Mesoderm

Share to Neural Crest

Share to Osteoblasts

Share to T-Box Domain Proteins

Source

Identifiers

PMID: 25209980
DOI: 10.1093/hmg/ddu458

Genes

TBX1
RUNX2

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

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia.PMID 25209980Read ↗

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.Semantic proximity Read ↗

Deletion of the T-box transcription factor gene, Tbx1, in mice induces differential expression of genes associated with cleft palate in humans.Semantic proximity Read ↗

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosageSemantic proximity Read ↗

Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1.Semantic proximity Read ↗

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.Semantic proximity Read ↗

Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.Semantic proximity Read ↗

Prospective signs of cleidocranial dysplasia in Cebpb deficiency.Semantic proximity Read ↗

Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndromeSemantic proximity Read ↗

A Runx2 threshold for the cleidocranial dysplasia phenotype.Semantic proximity Read ↗

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.Semantic proximity Read ↗

Cleidocranial dysplasia: clinical and molecular geneticsSemantic proximity Read ↗

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