Germ-line and somatic PTPN11 mutations in human disease.

  title={Germ-line and somatic PTPN11 mutations in human disease.},
  author={M Tartaglia and Bruce D Gelb},
  journal={European journal of medical genetics},
  volume={48 2},
Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or differentiation. SHP-2 is a cytoplasmic Src-homology 2 domain-containing protein tyrosine phosphatase that plays an important role in intracellular signaling and is required during development and hematopoiesis… CONTINUE READING


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