Associated Papers
Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.
Pan X et al.
Journal of Molecular Medicine (berlin, Germany), 2026
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
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
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
Prenatal exome sequencing for the morphologically normal fetus: Should we be doing it?
Gao Z et al.
Prenatal Diagnosis, 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
Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation.
Wang S et al.
Pediatric Investigation, 2023
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
Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.
Wu W et al.
Human Genomics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Isolated hereditary diffuse palmoplantar keratoderma in Hong Kong Chinese patients: a case series.
Yu PT et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.
Yoshikawa T et al.
Journal of Dermatological Science, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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
Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis.
On HR et al.
The Journal of Dermatology, 2017
Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis.
Nakajima K et al.
The Journal of Dermatology, 2017
Nagashima-type palmoplantar keratosis in a Chinese Han population.
Zhang J et al.
Molecular Medicine Reports, 2016
Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.
Songsantiphap C et al.
Case Reports in Dermatology, 0
Spontaneous clinical remission of Nagashima-type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation.
Thakker S et al.
Pediatric Dermatology, 0