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Article

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

The Journal of clinical investigation - 1 Apr 2011

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 21364285
DOI: 10.1172/JCI44630
PMCID: PMC3069777

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis.PMID 21364285Read ↗

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

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.Semantic proximity Read ↗

Craniofacial Phenotypes and Genetics of DiGeorge SyndromeSemantic proximity Read ↗

Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial DevelopmentSemantic proximity Read ↗

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants.Semantic proximity Read ↗

In Silico Analyses Reveal the Relationship Between SIX1/EYA1 Mutations and Conotruncal Heart Defects.Semantic proximity Read ↗

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

Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart DiseasesSemantic proximity Read ↗

DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and DifferentiationSemantic proximity Read ↗

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.Semantic proximity Read ↗

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.Semantic proximity Read ↗

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