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Citations to this article

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis
Chaoshe Guo, … , Anne Moon, Xue Li
Chaoshe Guo, … , Anne Moon, Xue Li
Published March 1, 2011
Citation Information: J Clin Invest. 2011;121(4):1585-1595. https://doi.org/10.1172/JCI44630.
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Research Article Cardiology

A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis

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Abstract

Shared molecular programs govern the formation of heart and head during mammalian embryogenesis. Development of both structures is disrupted in human chromosomal microdeletion of 22q11.2 (del22q11), which causes DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). Here, we have identified a genetic pathway involving the Six1/Eya1 transcription complex that regulates cardiovascular and craniofacial development. We demonstrate that murine mutation of both Six1 and Eya1 recapitulated most features of human del22q11 syndromes, including craniofacial, cardiac outflow tract, and aortic arch malformations. The mutant phenotypes were attributable in part to a reduction of fibroblast growth factor 8 (Fgf8), which was shown to be a direct downstream effector of Six1 and Eya1. Furthermore, we showed that Six1 and Eya1 genetically interacted with Fgf8 and the critical del22q11 gene T-box transcription factor 1 (Tbx1) in mice. Together, these findings reveal a Tbx1-Six1/Eya1-Fgf8 genetic pathway that is crucial for mammalian cardiocraniofacial morphogenesis and provide insights into the pathogenesis of human del22q11 syndromes.

Authors

Chaoshe Guo, Ye Sun, Bin Zhou, Rosalyn M. Adam, XiaoKun Li, William T. Pu, Bernice E. Morrow, Anne Moon, Xue Li

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2009 Total
Citations: 4 6 4 7 6 3 6 1 7 1 4 13 8 9 3 1 83
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2021 (6)

Title and authors Publication Year
The SIX Family of Transcription Factors: Common Themes Integrating Developmental and Cancer Biology
L Meurer, L Ferdman, B Belcher, T Camarata
Frontiers in Cell and Developmental Biology 2021
The Eyes Absent proteins in development and in developmental disorders
UK Soni, K Roychoudhury, RS Hegde
Biochemical Society Transactions 2021
Capturing Cardiogenesis in Gastruloids
G Rossi, N Broguiere, M Miyamoto, A Boni, R Guiet, M Girgin, RG Kelly, C Kwon, MP Lutolf
Cell Stem Cell 2021
Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development
AL Tavares, K Jourdeuil, KM Neilson, HD Majumdar, SA Moody
Development (Cambridge, England) 2021
Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm
H Nomaru, Y Liu, CD Bono, D Righelli, A Cirino, W Wang, H Song, SE Racedo, AG Dantas, L Zhang, CL Cai, C Angelini, L Christiaen, RG Kelly, A Baldini, D Zheng, BE Morrow
Nature Communications 2021
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1 -related disorders
E Calpena, M Wurmser, SJ McGowan, R Atique, DR Bertola, ML Cunningham, JA Gustafson, D Johnson, JE Morton, MR Passos-Bueno, AT Timberlake, RP Lifton, SA Wall, SR Twigg, P Maire, AO Wilkie
Journal of medical genetics 2021

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