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Activating Mutations of NOTCH1 in Human T Cell Acute Lymphoblastic Leukemia

Weng, Andrew P., Ferrando, Adolfo A., Lee, Woojoong, Morris, John P., Silverman, Lewis B., Sanchez-Irizarry, Cheryll, Blacklow, Stephen C., Look, A. Thomas, Aster, Jon C.·2004·Science

Abstract

Very rare cases of human T cell acute lymphoblastic leukemia (T-ALL) harbor chromosomal translocations that involve NOTCH1 , a gene encoding a transmembrane receptor that regulates normal T cell development. Here, we report that more than 50% of human T-ALLs, including tumors from all major molecular oncogenic subtypes, have activating mutations that involve the extracellular heterodimerization domain and/or the C-terminal PEST domain of NOTCH1. These findings greatly expand the role of activated NOTCH1 in the molecular pathogenesis of human T-ALL and provide a strong rationale for targeted therapies that interfere with NOTCH signaling.

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Metadata

Authors
Weng, A. P., Ferrando, A. A., Lee, W., Morris, J. P., Silverman, L. B., Sanchez-Irizarry, C., Blacklow, S. C., Look, A. T., & Aster, J. C.
Venue
Science
Published
2004-10-08
Volume
306
Issue
5694
Pages
269-271
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2000589976
Cited by
2,715
References
0
FWCI
85.53
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Activating Mutations of NOTCH1 in Human T Cell Acute Lymphoblastic Leukemia. https://app.cochat.ai/papers/10.1126/science.1102160
The paper
Weng, A. P., Ferrando, A. A., Lee, W., Morris, J. P., Silverman, L. B., Sanchez-Irizarry, C., Blacklow, S. C., Look, A. T., & Aster, J. C. (2004). Activating Mutations of NOTCH1 in Human T Cell Acute Lymphoblastic Leukemia. Science. https://doi.org/10.1126/science.1102160

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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.