The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
T (brachyury) gene duplication confers major susceptibility to familial chordoma
Open accessAbstract
Using high-resolution array-CGH, we identified unique duplications of a region on 6q27 in four multiplex families with at least three cases of chordoma, a cancer of presumed notochordal origin. The duplicated region contains only the T (brachyury) gene, which is important in notochord development and is expressed in most sporadic chordomas. Our findings highlight the value of screening for complex genomic rearrangements in searches for cancer-susceptibility genes.
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Cites
Copy-number variation and association studies of human disease
McCarroll, S. A., & Altshuler, D. M. (2007) · Nature Genetics · doi:10.1038/ng2080 · Cited by 622
Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas
Vujovic, S., Henderson, S., Presneau, N., Odell, E., Jacques, T., Tirabosco, R., Boshoff, C., & Flanagan, A. (2006) · The Journal of Pathology · doi:10.1002/path.1969 · Cited by 589
Genomic rearrangements and sporadic disease
Lupski, J. R. (2007) · Nature Genetics · doi:10.1038/ng2084 · Cited by 424
Lamin B1 duplications cause autosomal dominant leukodystrophy
Padiath, Q. S., Saigoh, K., Schiffmann, R., Asahara, H., Yamada, T., Koeppen, A., Hogan, K., Ptáček, L. J., & Fu, Y.-H. (2006) · Nature Genetics · doi:10.1038/ng1872 · Cited by 410
M OLECULAR M ECHANISMS FOR G ENOMIC D ISORDERS
Inoue, K., & Lupski, J. R. (2002) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.3.032802.120023 · Cited by 318
The T protein encoded by Brachyury is a tissue-specific transcription factor.
Kispert, A., Koschorz, B., & Herrmann, B. G. (1995) · The EMBO Journal · doi:10.1002/j.1460-2075.1995.tb00158.x · Cited by 292
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
Lee, J. A., & Lupski, J. R. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.027 · Cited by 289
Immunohistochemical Analysis of the Brachyury Protein in Wild-Type and Mutant Mouse Embryos
Kispert, A., & Herrmann, B. G. (1994) · Developmental Biology · doi:10.1006/dbio.1994.1019 · Cited by 225
Hereditary pancreatitis caused by triplication of the trypsinogen locus
Le Maréchal, C., Masson, E., Chen, J.-M., Morel, F., Ruszniewski, P., Levy, P., & Férec, C. (2006) · Nature Genetics · doi:10.1038/ng1904 · Cited by 202
Anderson, M. E., Randall, R. L., Springfield, D. S., & Gebhardt, M. C. (2014) · Elsevier eBooks · doi:10.1016/b978-1-4557-2865-7.00092-8 · Cited by 59
Cited by
Chordoma: current concepts, management, and future directions
Walcott, B. P., Nahed, B. V., Mohyeldin, A., Coumans, J.-V., Kahle, K. T., & Ferreira, M. J. (2012) · The Lancet Oncology · doi:10.1016/s1470-2045(11)70337-0 · Cited by 769
Ripperger, T., Bielack, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K., Deubzer, H., Dirksen, U., Eckert, C., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38142 · Cited by 283
Targeted degradation of transcription factors by TRAFTACs: TRAnscription Factor TArgeting Chimeras
Samarasinghe, K. T. G., Jaime-Figueroa, S., Burgess, M., Nalawansha, D. A., Dai, K., Hu, Z., Bebenek, A., Holley, S. A., & Crews, C. M. (2021) · Cell Chemical Biology · doi:10.1016/j.chembiol.2021.03.011 · Cited by 182
Metadata
- Authors
- Yang, X. R., Ng, D., Alcorta, D. A., Liebsch, N. J., Sheridan, E., Li, S., Goldstein, A. M., Parry, D. M., & Kelley, M. J.
- Venue
- Nature Genetics
- Published
- 2009-10-04
- Volume
- 41
- Issue
- 11
- Pages
- 1176-1178
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2065105749
- Cited by
- 305
- References
- 11
- FWCI
- 7.19
- Type
- journal article
- Language
- en
- Open access
- green
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- Yang, X. R., Ng, D., Alcorta, D. A., Liebsch, N. J., Sheridan, E., Li, S., Goldstein, A. M., Parry, D. M., & Kelley, M. J. (2009). T (brachyury) gene duplication confers major susceptibility to familial chordoma. Nature Genetics. https://doi.org/10.1038/ng.454
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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