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
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
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
37533579 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S1
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
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
30847336 (PubMed )
Supplement: Table_1.XLSX › SNP_Indel_ANNO
Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.
Morizane S et al.
Acta Medica Okayama, 2018
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
24490137 (PubMed )
Supplement: mmc5.xlsx › coding
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
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
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