Mining for JAK–STAT mutations in cancer

MiR-375 frequently downregulated in gastric cancer inhibits cell proliferation by targeting JAK2

“…The Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway mediates signaling by many cytokines, which is required for cell proliferation, survival and differentiation [30]. JAK2 is a member of the Janus family of cytoplasmic non-receptor tyrosine kinases, which also includes JAK1, JAK3 and TYK2 [31].…”

Constitutive activation of STAT3 in Sézary syndrome is independent of SHP-1

“…This is perhaps not surprising as the literature suggests that JAK mutations, including JAK2 V617, are uncommon in non-Hodgkin's lymphoma. 49 However, other rare activating JAK mutations have been described in various malignancies, 47,50 and therefore, a comprehensive analysis for JAK mutations in SS patients is required to fully exclude other activating mutations.…”

Signalling Pathways in Development and Human Disease: A Drosophila Wing Perspective

“…In this manner, both loss and gain of function mutations in different pathways have been described as potential causes of developmental disorders and disease. For example, the loss of TGFß and SWH function, as well as increase in JAK/STAT and EGFR, Wnt and Hh signalling are linked to tumour formation and progression in a variety of cell types Waite and Eng, 2003;Harvey and Tapon, 2007), the miss-regulation of Toll signalling is related with defects in the immune response (O'Neill, 2003), and is associated to the increase in the susceptibility of immune diseases such as Lupus and arthritis (Constantinescu et al, 2008;Schindler, 2002). Mutations in Hh, TGFß and Notch pathways have also been related with blood and circulatory system diseases such as hypertension or CADASIL, and defects in JNK pathway to neurodegenerative diseases including Parkinson and Alzheimer.…”