{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["15(1)"],"submitter":["Shi P"],"funding":["the Key research and development program of Shandong Province"],"pubmed_abstract":["Pityriasis rubra pilaris (PRP) is an inflammatory papulosquamous dermatosis, characterized by hyperkeratotic follicular papules and erythematous desquamative plaques. The precise pathogenic mechanism underlying PRP remains incompletely understood. Herein, we conduct a case-control study involving a cohort of 102 patients with sporadic PRP and 800 healthy controls of Han Chinese population and identify significant associations (P = 1.73 × 10<sup>-6</sup>) between PRP and heterozygous mutations in the Keratin 32 gene (KRT32). KRT32 is found to be predominantly localized in basal keratinocytes and exhibits an inhibitory effect on skin inflammation by antagonizing the NF-κB pathway. Mechanistically, KRT32 binds to NEMO, promoting excessive K48-linked polyubiquitination and NEMO degradation, wh"],"journal":["Nature communications"],"pagination":["6259"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11269665"],"repository":["biostudies-literature"],"pubmed_title":["Loss-of-function mutations in Keratin 32 gene disrupt skin immune homeostasis in pityriasis rubra pilaris."],"pmcid":["PMC11269665"],"pubmed_authors":["Liu H","Zhang F","Liu J","Shi P","Wang C","Lyu X","Yu Q","Lin Y","Jia F","Liu T","Sun Y","Li W","Liu Y","Mi Z","Sun Q","Zhang Y","Chen W","Zheng C","Ogese MO","Zhou G","Chen X","Chen S","Wang Z","Bai F"],"additional_accession":[]},"is_claimable":false,"name":"Loss-of-function mutations in Keratin 32 gene disrupt skin immune homeostasis in pityriasis rubra pilaris.","description":"Pityriasis rubra pilaris (PRP) is an inflammatory papulosquamous dermatosis, characterized by hyperkeratotic follicular papules and erythematous desquamative plaques. The precise pathogenic mechanism underlying PRP remains incompletely understood. Herein, we conduct a case-control study involving a cohort of 102 patients with sporadic PRP and 800 healthy controls of Han Chinese population and identify significant associations (P = 1.73 × 10<sup>-6</sup>) between PRP and heterozygous mutations in the Keratin 32 gene (KRT32). KRT32 is found to be predominantly localized in basal keratinocytes and exhibits an inhibitory effect on skin inflammation by antagonizing the NF-κB pathway. Mechanistically, KRT32 binds to NEMO, promoting excessive K48-linked polyubiquitination and NEMO degradation, wh","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-07-15T09:34:34.255Z","creation":"2025-04-19T13:12:56.35Z"},"accession":"S-EPMC11269665","cross_references":{"pubmed":["39048559"],"doi":["10.1038/s41467-024-50481-z"]}}