The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutation of a mutL Homolog in Hereditary Colon Cancer
Abstract
Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS -related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes ( hMLH1 ) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.
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Cites
Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
Cited by
Genetic instabilities in human cancers
Lengauer, C., Kinzler, K. W., & Vogelstein, B. (1998) · Nature · doi:10.1038/25292 · Cited by 4,168
Microsatellite Instability in Colorectal Cancer
Boland, C. R., & Goel, A. (2010) · Gastroenterology · doi:10.1053/j.gastro.2009.12.064 · Cited by 2,456
Ribic, C. M., Sargent, D. J., Moore, M. J., Thibodeau, S. N., French, A. J., Goldberg, R. M., Hamilton, S. R., Laurent-Puig, P., Gryfe, R., Shepherd, L. E., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022289 · Cited by 2,160
Self-citationMechanisms of DNA damage, repair, and mutagenesis
Chatterjee, N., & Walker, G. C. (2017) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22087 · Cited by 2,039
“Next, the MutL complexes are recruited on to DNA and among the 4 known human MutL homologs; the MutLa heterodimer (MLH1/PMS2 heterodimer) plays a major role in MMR [Nicolaides et al., 1994; Papadopoulos et al., 1994; Li and Modrich, 1995; Lipkin et al., 2000].”
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
Metadata
- Authors
- Papadopoulos, N., Nicolaides, N. C., Wei, Y.-F., Ruben, S. M., Carter, K. C., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., Venter, J. C., Hamilton, S. R., Petersen, G. M., Watson, P., Lynch, H. T., Peltomäki, P., Mecklin, J.-P., de la Chapelle, A., Kinzler, K. W., & Vogelstein, B.
- Venue
- Science
- Published
- 1994-03-18
- Volume
- 263
- Issue
- 5153
- Pages
- 1625-1629
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1981112371
- Cited by
- 1,834
- References
- 1
- FWCI
- 138.83
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
