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
A deep intronic founder variant in the SERPINB7 gene causing aberrant splicing is a potential therapeutic target for Nagashima-type palmoplantar keratoderma.
Chen Y et al.
Journal of Dermatological Science, 2025
Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report.
Hua C et al.
Frontiers in Immunology, 2025
Potential digenic inheritance of SERPINB7 and SERPINA12 variants in Chinese patients with Nagashima-type palmoplantar keratosis.
Liu Y et al.
The British Journal of Dermatology, 2024
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
Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients.
Liu J et al.
The Journal of Dermatology, 2023
Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma.
Liu J et al.
The British Journal of Dermatology, 2022
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
Nagashima-type palmoplantar keratoderma and malignant melanoma in Japanese patients.
Korekawa A et al.
The British Journal of Dermatology, 2019
A novel frameshift SERPINB7 mutation in a Chinese case with Nagashima-type palmoplantar keratosis: case report and review of the literature.
Hua S et al.
Clinical and Experimental Dermatology, 2018
Nagashima-type palmoplantar keratosis in a Chinese Han population.
Zhang J et al.
Molecular Medicine Reports, 2016
A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.
Li CX et al.
Clinical and Experimental 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
Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.
Songsantiphap C et al.
Case Reports in Dermatology, 0
Mutation analysis in three Chinese pedigrees with palmoplantar keratoderma caused by SERPINB7 gene mutations.
Han H et al.
Indian Journal of Dermatology, Venereology and Leprology, 0