Title : Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.

Pub. Date : 2021 Mar

PMID : 32795530






1 Functional Relationships(s)
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1 The p.Glu396Lys variant increased the enzymatic activity of PLCdelta1, leading to PKC/PKD/ERK1/2 pathway activation and TPRV6 channel closure, which not only resulted in excessive proliferation of keratinocytes in vitro and in vivo, but also induced local accumulation of calcium in the pilomatricoma-like tumor that developed spontaneously in the skin of Plcd1E396K/E396K mice. Calcium mitogen-activated protein kinase 3 Mus musculus