ArticleHuman molecular genetics2012
Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 75 citations in OpenAlex.
- The Roles of Tbx2 in Cochlear Development and Auditory Function.Neuroscience bulletin · 2026Article
- Thymic inborn errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- Thymus Ontogeny and Development.Advances in experimental medicine and biology · 2025Review
- The molecular mechanisms of cardiac development and related diseases.Signal transduction and targeted therapy · 2024Review
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Expression and prognosis analysis of TBX2 subfamily in human lung carcinoma.Discover oncology · 2024Article
- Cardiac Transcription Factors and Regulatory Networks.Advances in experimental medicine and biology · 2024Review
- Article
- Mesodermal FGF and BMP govern the sequential stages of zebrafish thyroid specification.Development (Cambridge, England) · 2023Article
- Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development.Nature communications · 2023Article
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- Tbx2 and Tbx3 regulate cell fate progression of the otic vesicle for inner ear development.Developmental biology · 2023Article
- Inborn errors of immunity associated with defects of thymic development.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- Tbx5 driveseLife · 2021Article
- Conserved and species-specific chromatin remodeling and regulatory dynamics during mouse and chicken limb bud development.Nature communications · 2021Article
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- The Multifunctional Contribution of FGF Signaling to Cardiac Development, Homeostasis, Disease and Repair.Frontiers in cell and developmental biology · 2021Review
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.Molecular psychiatry · 2019Article
- In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.Journal of visualized experiments : JoVE · 2019Article
- Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre.Journal of genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder and is characterized by abnormal development of the pharyngeal apparatus and heart. Cardiovascular malformations (CVMs) affecting the outflow tract (OFT) are frequently observed in 22q11.2DS and are among the most commonly occurring heart defects. The gene encoding T-box transcription factor 1 (Tbx1) has been identified as a major candidate for 22q11.2DS. However, CVMs are generally considered to have a multigenic basis and single-gene mutations underlying these malformations are rare. The T-box family members Tbx2 and Tbx3 are individually required in regulating aspects of OFT and pharyngeal development. Here, using expression and three-dimensional reconstruction analysis, we show that Tbx1 and Tbx2/Tbx3 are largely uniquely expressed but overlap in the caudal pharyngeal mesoderm during OFT development, suggesting potential combinatorial requirements. Cross-regulation between Tbx1 and Tbx2/Tbx3 was analyzed using mouse genetics and revealed that Tbx1 deficiency affects Tbx2 and Tbx3 expression in neural crest-derived cells and pharyngeal mesoderm, whereas Tbx2 and Tbx3 function redundantly upstream of Tbx1 and Hh ligand expression in pharyngeal endoderm and bone morphogenetic protein- and fibroblast growth factor-signaling in cardiac progenitors. Moreover, in vivo, we show that loss of two of the three genes results in severe pharyngeal hypoplasia and heart tube extension defects. These findings reveal an indispensable T-box gene network governing pharyngeal and OFT development and identify TBX2 and TBX3 as potential modifier genes of the cardiopharyngeal phenotypes found in TBX1-haploinsufficient 22q11.2DS patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.