The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
Abstract
Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. Here it is shown that a subset of juvenile polyposis families carry germ line mutations in the gene SMAD4 (also known as DPC4 ), located on chromosome 18q21.1, that encodes a critical cytoplasmic mediator in the transforming growth factor–β signaling pathway. The mutant SMAD4 proteins are predicted to be truncated at the carboxyl-terminus and lack sequences required for normal function. These results confirm an important role for SMAD4 in the development of gastrointestinal tumors.
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Citations
Cites
DPC4 , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
Hahn, S. A., Schutte, M., Shamsul Hoque, A. T. M., Moskaluk, C. A., da Costa, L. T., Rozenblum, E., Weinstein, C. L., Fischer, A., Yeo, C. J., Hruban, R. H., et al. (1996) · Science · doi:10.1126/science.271.5247.350 · Cited by 2,337
Liaw, D., Marsh, D. J., Li, J., Dahia, P. L. M., Wang, S. I., Zheng, Z., Bose, S., Call, K. M., Tsou, H. C., Peacoke, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-64 · Cited by 2,091
A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Hemminki, A., Markie, D., Tomlinson, I., Avizienyte, E., Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, M., Höglund, P., et al. (1998) · Nature · doi:10.1038/34432 · Cited by 1,656
Self-citationPartnership between DPC4 and SMAD proteins in TGF-β signalling pathways
Lagna, G., Hata, A., Hemmati-Brivanlou, A., & Massagué, J. (1996) · Nature · doi:10.1038/383832a0 · Cited by 905
Li, D., & Sun, H. (1997) · PubMed · Cited by 866
Eppert, K., Scherer, S. W., Ozcelik, H., Pirone, R., Hoodless, P., Kim, H., Tsui, L.-C., Bapat, B., Gallinger, S., Andrulis, I. L., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)80128-2 · Cited by 845
DPC4 gene in various tumor types.
Schutte, M. E. M., Hruban, R. H., Hedrick, L., Cho, K. R., Nadasdy, G. M., Weinstein, C. L., Bova, G. S., Isaacs, W. B., Cairns, P., Nawroz, H., et al. (1996) · PubMed · Cited by 672
Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers
Thiagalingam, S., Lengauer, C., Leach, F. S., Schutte, M., Hahn, S. A., Overhauser, J., Willson, J. K. V., Markowitz, S., Hamilton, S. R., Kern, S. E., et al. (1996) · Nature Genetics · doi:10.1038/ng0796-343 · Cited by 617
Intestinal Tumorigenesis in Compound Mutant Mice of both Dpc4(Smad4) and Apc Genes
Takaku, K., Oshima, M., Miyoshi, H., Matsui, M., Seldin, M. F., & Taketo, M. M. (1998) · Cell · doi:10.1016/s0092-8674(00)81132-0 · Cited by 609
A structural basis for mutational inactivation of the tumour suppressor Smad4
Shi, Y., Hata, A., Lo, R. S., Massagué, J., & Pavletich, N. P. (1997) · Nature · doi:10.1038/40431 · Cited by 461
Cited by
TGFβ Signaling in Growth Control, Cancer, and Heritable Disorders
Massagué, J., Blain, S. W., & Lo, R. S. (2000) · Cell · doi:10.1016/s0092-8674(00)00121-5 · Cited by 2,385
TGF-β Signaling in Tumor Suppression and Cancer Progression
Derynck, R., Akhurst, R. J., & Balmain, A. (2001) · Nature Genetics · doi:10.1038/ng1001-117 · Cited by 2,275
Bissell, M. J., & Radisky, D. (2001) · Nature Reviews Cancer · doi:10.1038/35094059 · Cited by 2,180
Molecular Basis of Colorectal Cancer
Markowitz, S. D., & Bertagnolli, M. M. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0804588 · Cited by 2,052
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Metadata
- Authors
- Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., & Aaltonen, L. A.
- Venue
- Science
- Published
- 1998-05-15
- Volume
- 280
- Issue
- 5366
- Pages
- 1086-1088
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2125256208
- Cited by
- 907
- References
- 19
- FWCI
- 37.30
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis. https://app.cochat.ai/papers/10.1126/science.280.5366.1086
- The paper
- Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H. J., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., Stone, E. M., & Aaltonen, L. A. (1998). Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis. Science. https://doi.org/10.1126/science.280.5366.1086
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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.
