FGFR4 is highly expressed in rhabdomyosarcoma (RMS) tissue, ...

created [InstanceEdit:2046365] Rothfels, K, 2012-01-11
dbId 2046364
displayName FGFR4 is highly expressed in rhabdomyosarcoma (RMS) tissue, ...
modified [InstanceEdit:2085590] Rothfels, K, 2012-02-03
schemaClass Summation
text FGFR4 is highly expressed in rhabdomyosarcoma (RMS) tissue, and high levels of expression are correlated with lower survival. Sequencing of exons from 94 RMS tumors identified 14 missense variants, 6 of which were localized in the tyrosine kinase domain, and four of which were in two amino acids (N535K/D and V550E/L). Mutations at amino acid 535 are predicted to eliminate an inhibitory H-bond that restricts receptor autophosphorylation, and mutations at amino acid 550 are believed to alter the ATP-binding site. Functional studies on N535K and V550 show that they undergo autophosphorylation when transfected into a murine RMS lines and transformed NIH 3T3 cells, leading to a metastatic phenotype (Taylor, 2009).
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