Associated Papers
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
Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5.
Guan Y et al.
Frontiers in Immunology, 2025
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
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 Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.
Moltrasio C et al.
Genes, 2023
Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
Frank DN et al.
Journal of Medical Genetics, 2021
Genomic profiling of colorectal cancer with isolated lung metastasis.
Zhang N et al.
Cancer Cell International, 2020
32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1
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
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F et al.
The Journal of Allergy and Clinical Immunology, 2015
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D et al.
The Journal of Allergy and Clinical Immunology, 2015
Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.
Namkung JH et al.
Experimental Dermatology, 2010
Replication of genetic association studies in asthma and related phenotypes.
Undarmaa S et al.
Journal of Human Genetics, 2010
Polymorphisms in SPINK5 are not associated with asthma in a Dutch population.
Jongepier H et al.
The Journal of Allergy and Clinical Immunology, 2005
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