Associated Papers
Abrocitinib alleviates the symptoms of Netherton syndrome and is well tolerated.
Tang JT et al.
The Journal of Dermatological Treatment, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Gene variants associated with skin barrier dysfunction in atopic dermatitis: a systematic review and meta-analysis.
Cordeiro PL et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2025
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.
Perälä M et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2023
Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2021
Clinical Characteristics and Genetic Variations in Early-Onset Atopic Dermatitis Patients.
Kim BJ et al.
Annals of Dermatology, 2019
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.
Alallasi SR et al.
Frontiers in Pediatrics, 2019
Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.
Morizane S et al.
Acta Medica Okayama, 2018
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
Lee NR et al.
Journal of Korean Medical Science, 2016
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
Low SPINK5 expression in chronic rhinosinusitis.
Fruth K et al.
The Laryngoscope, 2012
Association of SPINK5 gene polymorphisms with atopic dermatitis in Northeast China.
Zhao LP et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2012
A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population.
Liu Q et al.
Bmc Medical Genetics, 2009
Netherton syndrome: mutation analysis of two Taiwanese families.
Lin SP et al.
Archives of Dermatological Research, 2007
Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
Smyth DJ et al.
Bmc Medical Genetics, 2006
Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese.
Nishio Y et al.
Genes and Immunity, 2003
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
Bitoun E et al.
The Journal of Investigative Dermatology, 2002