Article details

Huang et al. Cell Motility and the Cytoskeleton 2008;65:964-78.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
JUP2S39_K40insSc.118_119insGCAp.Ser39_Lys40insSer 0/0   A model using transfected HEK293 cells showed diminished cell stiffness without affecting cell-to-cell adhesion Mutation details
JUP12G680fsX690c.2040_2041delGTp.Trp680GlyfsX11 0/0   A model using transfected HEK293 cells showed dramatically decreased cell-to-cell adhesion without affecting cell compliance Mutation details