Article
Novel activating mutations lacking cysteine in type I cytokine receptors in acute lymphoblastic leukemia.
Blood - 3 Jul 2014
Shochat Chen, Tal Noa, Gryshkova Vitalina, Birger Yehudit, Bandapalli Obul R, Cazzaniga Giovanni, Gershman Nava, Kulozik Andreas E, Biondi Andrea, Mansour Marc R, Twizere Jean-Claude, Muckenthaler Martina U, Ben-Tal Nir, Constantinescu Stefan N, Bercovich Dani, Izraeli Shai
Abstract excerpt
Gain-of-function somatic mutations introducing cysteines to either the extracellular or to the transmembrane domain (TMD) in interleukin-7 receptor α (IL7R) or cytokine receptor-like factor 2 (CRLF2) have been described in acute lymphoblastic leukemias. Here we report noncysteine in-frame mutations in IL7R and CRLF2 located in a region of the TMD closer to the cytosolic domain. Biochemical and functional assays...
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