Associated Papers
A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus.
de Kock L et al.
American Journal of Medical Genetics. Part A, 2025
Case of familial trichilemmal cyst caused by a recurrent monoallelic mutational mechanism in the PLCD1 gene.
Aoki Y et al.
The Journal of Dermatology, 2024
Genotype-Phenotype Correlation in Trichilemmal Cysts.
Yousaf A et al.
The Journal of Investigative Dermatology, 2021
Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.
Liu K et al.
The Journal of Investigative Dermatology, 2021
Phospholipase C families: Common themes and versatility in physiology and pathology.
Katan M et al.
Progress in Lipid Research, 2020
Hereditary Trichilemmal Cysts are Caused by Two Hits to the Same Copy of the Phospholipase C Delta 1 Gene (PLCD1).
Kolodney MS et al.
Scientific Reports, 2020
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation.
Hörer S et al.
The Journal of Investigative Dermatology, 2019
PLCD1 and Pilar Cysts.
Shimomura Y et al.
The Journal of Investigative Dermatology, 2019
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