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Cited by 2,082

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Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1

Chandrasekharappa, Settara C., Guru, Siradanahalli C., Manickam, Pachiappan, Olufemi, Shodimu-Emmanuel, Collins, Francis S., Emmert-Buck, Michael R., Debelenko, Larisa V., Zhuang, Zhengping, Lubensky, Irina A., Liotta, Lance A., Crabtree, Judy S., Wang, Yingping, Roe, Bruce A., Weisemann, Jane, Boguski, Mark S., Agarwal, Sunita K., Kester, Mary Beth, Kim, Young S., Heppner, Christina, Dong, Qihan, Spiegel, Allen M., Burns, A. Lee, Marx, Stephen J.·1997·Science

Abstract

Multiple endocrine neoplasia–type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors in parathyroids, enteropancreatic endocrine tissues, and the anterior pituitary. DNA sequencing from a previously identified minimal interval on chromosome 11q13 identified several candidate genes, one of which contained 12 different frameshift, nonsense, missense, and in-frame deletion mutations in 14 probands from 15 families. The MEN1 gene contains 10 exons and encodes a ubiquitously expressed 2.8-kilobase transcript. The predicted 610–amino acid protein product, termed menin, exhibits no apparent similarities to any previously known proteins. The identification of MEN1 will enable improved understanding of the mechanism of endocrine tumorigenesis and should facilitate early diagnosis.

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Metadata

Authors
Chandrasekharappa, S. C., Guru, S. C., Manickam, P., Olufemi, S.-E., Collins, F. S., Emmert-Buck, M. R., Debelenko, L. V., Zhuang, Z., Lubensky, I. A., Liotta, L. A., Crabtree, J. S., Wang, Y., Roe, B. A., Weisemann, J., Boguski, M. S., Agarwal, S. K., Kester, M. B., Kim, Y. S., Heppner, C., Dong, Q., Spiegel, A. M., Burns, A. L., & Marx, S. J.
Venue
Science
Published
1997-04-18
Volume
276
Issue
5311
Pages
404-407
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2157212789
Cited by
2,082
References
0
FWCI
114.49
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1. https://app.cochat.ai/papers/10.1126/science.276.5311.404
The paper
Chandrasekharappa, S. C., Guru, S. C., Manickam, P., Olufemi, S.-E., Collins, F. S., Emmert-Buck, M. R., Debelenko, L. V., Zhuang, Z., Lubensky, I. A., Liotta, L. A., Crabtree, J. S., Wang, Y., Roe, B. A., Weisemann, J., Boguski, M. S., Agarwal, S. K., Kester, M. B., Kim, Y. S., Heppner, C., . . . Marx, S. J. (1997). Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1. Science. https://doi.org/10.1126/science.276.5311.404

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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.