Associated Papers
Functional Characterization of a Novel In-Frame Indel and a Founder Variant in SERPINB7 Associated With Palmoplantar Keratoderma.
Liu J et al.
The Journal of Dermatology, 2026
Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.
Higashino T et al.
The Journal of Dermatology, 2025
A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Brandt E et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
Two novel mutations of SERPINB7 in eight cases of Nagashima-type palmoplantar keratosis in the Chinese population.
Xiao T et al.
The Journal of Dermatology, 2022
Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma.
Ito Y et al.
Journal of Dermatological Science, 2021
Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.
Huang C et al.
Biomed Research International, 2021
Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.
Li Q et al.
Frontiers in Genetics, 2021
Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts.
Ohguchi Y et al.
The Journal of Investigative Dermatology, 2018
Nagashima-type palmoplantar keratosis in a Chinese Han population.
Zhang J et al.
Molecular Medicine Reports, 2016
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.
Shiohama A et al.
The Journal of Investigative Dermatology, 2016
Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.
Suzuki S et al.
The British Journal of Dermatology, 2015
Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
Mizuno O et al.
The British Journal of Dermatology, 2014
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A et al.
American Journal of Human Genetics, 2013
Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.
Songsantiphap C et al.
Case Reports in Dermatology, 0