NOTCH1 extracellular juxtamembrane expansion mutations in T-ALL.

  title={NOTCH1 extracellular juxtamembrane expansion mutations in T-ALL.},
  author={Maria Luisa Sulis and Odette Williams and Teresa Palomero and Valeria Tosello and Sasikala Pallikuppam and Pedro J Real and Kelly C Barnes and Linda Zuurbier and Jules P P Meijerink and Adolfo A. Ferrando},
  volume={112 3},
Heterodimerization domain (HD) mutations in NOTCH1 induce ligand-independent activation of the receptor and contribute to the pathogenesis of one-third of human T-cell lymphoblastic leukemias (T-ALLs). Here we report a novel class of activating mutations in NOTCH1 leading to aberrant activation of NOTCH1 signaling in T-cell lymphoblasts. These so-called juxtamembrane expansion (JME) alleles consist of internal duplication insertions in the vicinity of exon 28 of the NOTCH1 gene encoding the… CONTINUE READING


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Genbank. Nucleic Acids Res. 2008;36:D25-30., accession no. NM_017617.2

DA Benson, I Karsch-Mizrachi, DJ Lipman
Accessed January • 2008

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