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Article

Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.

The Journal of investigative dermatology - 1 Apr 2018

Ohguchi Yuka, Nomura Toshifumi, Suzuki Shotaro, Takeda Masae, Miyauchi Toshinari, Mizuno Osamu, Shinkuma Satoru, Fujita Yasuyuki, Nemoto Osamu, Ono Kota, McLean W H Irwin, Shimizu Hiroshi

Abstract excerpt

Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet medical need that is caused by mutations in SERPINB7. Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the last exon of SERPINB7. Here we sought to determine whether topical nonsense-suppression (readthrough) therapy using gentamicin is applicable to NPPK. First, we...

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Source

Identifiers

PMID: 29106929
DOI: 10.1016/j.jid.2017.10.014

Genes

SERPINB7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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