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Article

siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis.

PloS one - 1 Jan 2012

Dahlqvist Johanna, Törmä Hans, Badhai Jitendra, Dahl Niklas

Abstract excerpt

Keratosis linearis with ichthyosis congenita and keratoderma (KLICK) is an autosomal recessive skin disorder associated with a single-nucleotide deletion in the 5'untranslated region of the proteasome maturation protein (POMP) gene. The deletion causes a relative switch in transcription start sites for POMP, predicted to decrease levels of POMP protein in terminally differentiated keratinocytes. To investigate...

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Source

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Identifiers

PMID: 22235297
DOI: 10.1371/journal.pone.0029471
PMCID: PMC3250448

Genes

POMP
EBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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