目前的工作: To determine the DDR1 mutations in 7 OSCC cell lines.
Note:
The external gene-specific primers and internal M13-appended PCR primers for activation loops and JM domain (Ref.1)(Ref.2) 這兩篇的mutation都與drug的sensitivity有關。
我稍微追了一下Ref.2: Cancer Cell 2005這篇以High-throughput DNA resequencing 在164 polycythemia vera病人當中的121位有 JAK2V617F missense mutation，其中41位homozygous mutation; 80位 heterozygous mutation。Homozygous mutations來自於mutation allele的duplication。這篇的貢獻在於Inhibition of the JAK2V617F kinase with a small molecule inhibitor leads to inhibition of proliferation of hematopoietic cells, suggesting that the JAK2 tyrosine kinase is a potential target for pharmacologic inhibition in patients with myeloproliferative disorders。
不過他們不是第一個在myeloproliferative disorders發現這個突變點的唯一group，幾乎在同時，另一個group也identify到JAK2V617F的 mutation 並且發表於Nature (2005)，這篇是在講 JAK2V617F mutation leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity and induces erythrocytosis in a mouse model。這兩篇是最早identify到JAK2V617F的group。
之後，一直到最近，這當中陸陸續續發表了好多篇針對JAK2V617F sensitive的kinase inhibitor的paper。如最近的(Blood. 2011) (Blood Rev. 2011) 這兩篇。很有趣耶(面白いね)。