Discoidin domain receptors and disease

The discoidin domain receptors have been implicated as contributing to normal developmental and pathologic conditions in humans. Mutations in the DDR genes have been described in a number of human diseases. Some of these are now being modeled in mice, which have afforded a better understanding for the cellular basis for the action of DDRs in various pathologic states. Herein, we first discuss the role(s) that DDR1 and DDR2 play in mouse development. Then we discuss pathologic conditions in humans where the action of DDRs has been associated with or correlated with pathologic and genomic analyses. Accumulated data indicate that the action of DDRs in various cell types have both cell-intrinsic roles as well as affecting the nature of the extracellular matrix produced or present in pathologic conditions.