ArticleDevelopmental biology2006
Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants.
Article in Developmental biology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.Human molecular genetics · 2017Pooled it
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- TBX1 is required for normal stria vascularis and semicircular canal development.Developmental biology · 2020Article
- Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.PLoS genetics · 2019Article
- An interaction-based model for neuropsychiatric features of copy-number variants.PLoS genetics · 2019Article
- Pcsk5 is required in the early cranio-cardiac mesoderm for heart development.BMC developmental biology · 2017Article
- The Complex Genetic Basis of Congenital Heart Defects.Circulation journal : official journal of the Japanese Circulation Society · 2017Review
- Copy number variants in Ebstein anomaly.PloS one · 2017Article
- SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome.Rare diseases (Austin, Tex.) · 2016Article
- 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.Journal of pediatric genetics · 2015Article
- Heterogeneity in the Segmental Development of the Aortic Tree: Impact on Management of Genetically Triggered Aortic Aneurysms.Aorta (Stamford, Conn.) · 2014Article
- Tbx1 controls the morphogenesis of pharyngeal pouch epithelia through mesodermal Wnt11r and Fgf8a.Development (Cambridge, England) · 2014Article
- Signals and switches in Mammalian neural crest cell differentiation.Cold Spring Harbor perspectives in biology · 2013Review
- Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.Developmental dynamics : an official publication of the American Association of Anatomists · 2012Article
- Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis.Human molecular genetics · 2012Article
- A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis.The Journal of clinical investigation · 2011Article
- Partial rescue of the Tbx1 mutant heart phenotype by Fgf8: genetic evidence of impaired tissue response to Fgf8.Journal of molecular and cellular cardiology · 2010Article
- 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.Pediatric cardiology · 2010Review
- Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.Circulation research · 2010Article
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.The Journal of clinical investigation · 2009Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
Fgf8 and Tbx1 have been shown to interact in patterning the aortic arch, and both genes are required in formation and growth of the outflow tract of the heart. However, the nature of the interaction of the two genes is unclear. We have utilized a novel Tbx1(Fgf8) allele which drives Fgf8 expression in Tbx1-positive cells and an inducible Cre-LoxP recombination system to address the role of Fgf8 in Tbx1 positive cells in modulating cardiovascular development. Results support a requirement of Fgf8 in Tbx1 expressing cells to finely control patterning of the aortic arch and great arteries specifically during the pharyngeal arch artery remodeling process and indicate that the endoderm is the most likely site of this interaction. Furthermore, our data suggest that Fgf8 and Tbx1 play independent roles in regulating outflow tract development. This finding is clinically relevant since TBX1 is the candidate for DGS/VCFS, characterized clinically by variable expressivity and reduced penetrance of cardiovascular defects; Fgf8 gene variants may provide molecular clues to this variability.
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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.