Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

doi:10.1093/hmg/ddy146

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

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Human molecular genetics - 15 Jul 2018

Liu Ning, Schoch Kelly, Luo Xi, Pena Loren D M, Bhavana Venkata Hemanjani, Kukolich Mary K, Stringer Sarah, Powis Zöe, Radtke Kelly, Mroske Cameron, Deak Kristen L, McDonald Marie T, McConkie-Rosell Allyn, Markert M Louise, Kranz Peter G, Stong Nicholas, Need Anna C, Bick David, Amaral Michelle D, Worthey Elizabeth A, Levy Shawn, Wangler Michael F, Bellen Hugo J, Shashi Vandana, Yamamoto Shinya

Abstract excerpt

The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Disease Models, Animal

Share to Drosophila melanogaster

Share to Gene Expression Regulation, Developmental

Share to Genetic Predisposition to Disease

Share to Heart Defects, Congenital

Share to Mice

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 29726930
DOI: 10.1093/hmg/ddy146
PMCID: PMC6030957

Genes

TBX2
TBX1

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.PMID 29726930Read ↗

TBX2 gene duplication associated with complex heart defect and skeletal malformations.Semantic proximity Read ↗

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.Semantic proximity Read ↗

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.Semantic proximity Read ↗

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.Semantic proximity Read ↗

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

Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS.Semantic proximity Read ↗

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

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

Characterization of TBX20 in human hearts and its regulation by TFAP2.Semantic proximity Read ↗

Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.Semantic proximity Read ↗

22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Semantic proximity Read ↗

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.Semantic proximity Read ↗

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