The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways
Abstract
TBX1 is the major candidate gene for DiGeorge syndrome (DGS). Mouse studies have shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and that it is required for the development of pharyngeal arches and pouches, as predicted by the DGS clinical phenotype. However, a detailed analysis of the cardiovascular phenotype associated with Tbx1 mutations has not been reported. Here we show that Tbx1 deficiency causes a number of distinct vascular and heart defects, suggesting multiple roles in cardiovascular development - specifically formation and growth of the pharyngeal arch arteries, growth and septation of the outflow tract of the heart, interventricular septation, and conal alignment. Comparison of phenotype and gene expression using a Tbx1-lacZ reporter allele supports a cell-autonomous function in the growth of the pharyngeal apparatus, and a cell non-autonomous function in the growth and early remodeling of the pharyngeal arch arteries. Our data do not support a direct role of neural crest cells in the pathogenesis of the Tbx1 mutant phenotype; however, these cells, and the cranial nerves, are misdirected. We hypothesize that this is due to the lack of a guidance role from the pouch endoderm, which is missing in these mutants.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Ryan, A. K., Goodship, J. A., Wilson, D. I., Philip, N., Levy, A., Seidel, H., Schuffenhauer, S., Oechsler, H., Belohradsky, B., Prieur, M., et al. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.10.798 · Cited by 1,199
Fate of the mammalian cardiac neural crest
Jiang, X., Rowitch, D. H., Soriano, P., McMahon, A. P., & Sucov, H. M. (2000) · Development · doi:10.1242/dev.127.8.1607 · Cited by 1,163
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
Jerome, L. A., & Papaioannou, V. E. (2001) · Nature Genetics · doi:10.1038/85845 · Cited by 1,084
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
Lindsay, E. A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparo, T., Jurecic, V., Ogunrinu, G., Sutherland, H. F., Scambler, P. J., et al. (2001) · Nature · doi:10.1038/35065105 · Cited by 1,017
Self-citationTBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
Merscher, S., Funke, B., Epstein, J. A., Heyer, J., Puech, A., Lu, M. M., Xavier, R. J., Demay, M. B., Russell, R. G., Factor, S., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00247-1 · Cited by 982
The Arterial Pole of the Mouse Heart Forms from Fgf10-Expressing Cells in Pharyngeal Mesoderm
Kelly, R. G., Brown, N. A., & Buckingham, M. E. (2001) · Developmental Cell · doi:10.1016/s1534-5807(01)00040-5 · Cited by 853
Expression of the T-box family genes,Tbx1-Tbx5, during early mouse development
Chapman, D. L., Garvey, N., Hancock, S., Alexiou, M., Agulnik, S. I., Gibson-Brown, J. J., Cebra-Thomas, J., Bollag, R. J., Silver, L. M., & Papaioannou, V. E. (1996) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199608)206:4<379::aid-aja4>3.0.co;2-f · Cited by 655
Conotruncal myocardium arises from a secondary heart field
Waldo, K. L., Kumiski, D. H., Wallis, K. T., Stadt, H. A., Hutson, M. R., Platt, D. H., & Kirby, M. L. (2001) · Development · doi:10.1242/dev.128.16.3179 · Cited by 650
The Outflow Tract of the Heart Is Recruited from a Novel Heart-Forming Field
Mjaatvedt, C. H., Nakaoka, T., Moreno-Rodriguez, R., Norris, R. A., Kern, M. J., Eisenberg, C. A., Turner, D., & Markwald, R. R. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0409 · Cited by 541
Scambler, P. J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.16.2421 · Cited by 490
Cited by
McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236
Minoux, M., & Rijli, F. M. (2010) · Development · doi:10.1242/dev.040048 · Cited by 507
The neural crest in cardiac congenital anomalies
Keyte, A., & Hutson, M. R. (2012) · Differentiation · doi:10.1016/j.diff.2012.04.005 · Cited by 259
Helms, J. A., & Schneider, R. A. (2003) · Nature · doi:10.1038/nature01656 · Cited by 255
Definitive endoderm of the mouse embryo: Formation, cell fates, and morphogenetic function
Lewis, S. L., & Tam, P. P. L. (2006) · Developmental Dynamics · doi:10.1002/dvdy.20846 · Cited by 164
Metadata
- Authors
- Vitelli, F.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-04-15
- Volume
- 11
- Issue
- 8
- Pages
- 915-922
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2011884985
- Cited by
- 330
- References
- 25
- FWCI
- 7.88
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. https://app.cochat.ai/papers/10.1093/hmg/11.8.915
- The paper
- Vitelli, F. (2002). Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Human Molecular Genetics. https://doi.org/10.1093/hmg/11.8.915
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
