Article
An activating intragenic deletion in NOTCH1 in human T-ALL.
Blood - 31 May 2012
Haydu J Erika, De Keersmaecker Kim, Duff Mary Kaye, Paietta Elisabeth, Racevskis Janis, Wiernik Peter H, Rowe Jacob M, Ferrando Adolfo
Abstract excerpt
Oncogenic activating mutations in NOTCH1 occur in more than 50% of T-cell acute lymphoblastic leukemias (T-ALLs). In the present study, we describe a novel mechanism of NOTCH1 activation in T-ALL in which a deletion removing the 5' portion of NOTCH1 abolishes the negative regulatory control of the extracellular domain and leads to constitutively active NOTCH1 signaling. Polypeptides translated from truncated...
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