Article
KIT GNNK splice variants: expression in systemic mastocytosis and influence on the activating potential of the D816V mutation in mast cells.
Experimental hematology - 1 Oct 2013
Chan Eunice Ching, Bai Yun, Bandara Geethani, Simakova Olga, Brittain Erica, Scott Linda, Dyer Kimberly D, Klion Amy D, Maric Irina, Gilfillan Alasdair M, Metcalfe Dean D, Wilson Todd M
Abstract excerpt
Stem cell factor-dependent KIT activation is an essential process for mast cell homeostasis. The two major splice variants of KIT differ by the presence or absence of four amino acids (GNNK) at the juxta-membrane region of the extracellular domain. We hypothesized that the expression pattern of these variants differs in systemic mastocytosis and that transcripts containing the KIT D816V mutation segregate...
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