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
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Somatic_TSG_allVariants_
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
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a549_f40r3
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