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
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 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
Late-Onset Nagashima-Type Palmoplantar Keratosis in a Chinese Family With a Novel Potential Causative Heterozygous M208I Variant of the SERPINB7 Gene.
Wang 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
Heterozygous Pathogenic Variants in SERPINB7 Potentially Associated With Concomitant Moyamoya Angiopathy and Nagashima-Type Palmoplantar Keratoderma.
Kazerooni L et al.
American Journal of Medical Genetics. Part A, 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
Digenic Biallelic Variants in SERPINB7 and SERPINA12 in a Patient With a Severe Phenotype of Nagashima-Type Palmoplantar Keratosis.
Huang Z et al.
The Journal of Dermatology, 2025
SERPINA12 variants harboured in Nagashima-type palmoplantar keratoderma: Potential inflammatory characteristics.
Zhang C 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
Nagashima-type palmoplantar keratosis patients harboring SERPINB7 and SERPINA12 variants.
Jiang X et al.
The Journal of Dermatology, 2025
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
History and prospects of Nagashima-type palmoplantar keratosis, the most common palmoplantar keratoderma in east Asian populations.
Kubo A
The Journal of Dermatology, 2025
SERPINB7 Deficiency Increases Legumain Activity and Impairs the Epidermal Barrier in Nagashima-Type Palmoplantar Keratoderma.
Li S et al.
The Journal of Investigative Dermatology, 2025
Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report.
Hua C et al.
Frontiers in Immunology, 2025
The roles of serine protease inhibitors in dermatoses.
Xiao Z et al.
Frontiers in Genetics, 2025
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.
Molecular Medicine Reports, 2024
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
Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient.
Wang T et al.
Clinical Case Reports, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report.
Tan M et al.
Frontiers in Genetics, 2024
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
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
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders.
Xintong Z et al.
Bmc Medical Genomics, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and its spatiotemporal expression in zebrafish.
Lyu C et al.
Experimental Dermatology, 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
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.
Wei SJ et al.
Bmc Genomics, 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
SerpinB7 deficiency contributes to development of psoriasis via calcium-mediated keratinocyte differentiation dysfunction.
Zheng H et al.
Cell Death & Disease, 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
Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.
Yu J et al.
Acta Dermato-venereologica, 2022
Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.
Cohen-Barak E et al.
Experimental Dermatology, 2022
Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.
Tong K et al.
Frontiers in Genetics, 2022
Application of topical gentamicin-a new era in the treatment of genodermatosis.
Wang S et al.
World Journal of Pediatrics : Wjp, 2021
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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
Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.
Bodemer C et al.
The British Journal of Dermatology, 2021
Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.
Huang C et al.
Biomed Research International, 2021