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
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
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
Association between polymorphisms and atopic dermatitis susceptibility: A systematic review and meta-analysis.
Huang Y et al.
Gene, 2024
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
Genetic variants affecting chemical mediated skin immunotoxicity.
Rodrigues de Souza I et al.
Journal of Toxicology and Environmental Health. Part B, Critical Reviews, 2022
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M et al.
Frontiers in Immunology, 2022
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
Genetic polymorphisms in serine protease inhibitor Kazal-type 5 and risk of atopic dermatitis: A meta-analysis.
Li Y et al.
Medicine, 2020
Exonic mutations associated with atopic dermatitis disrupt lympho-epithelial Kazal-type related inhibitor action and enhance its degradation.
Ramesh K et al.
Allergy, 2020
Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis.
Nomura H et al.
International Journal of Molecular Sciences, 2020
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
The Association between ANXA11 Gene Polymorphisms and Sarcoidosis: a Meta-Analysis and systematic review.
Zhou H et al.
Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of Wasog, 2016
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
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
Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.
Namkung JH et al.
Experimental Dermatology, 2010
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
A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene.
Mizuno Y et al.
The British Journal of Dermatology, 2005
Lack of association of SPINK5 polymorphisms with nonsyndromic atopic dermatitis in the population of Northern Germany.
Fölster-Holst R et al.
The British Journal of Dermatology, 2005
DNA microarray analysis of chromosomal susceptibility regions to identify candidate genes for allergic disease: a pilot study.
Benson M et al.
Acta Oto-laryngologica, 2004
Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample.
Kabesch M et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2004
Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese.
Nishio Y et al.
Genes and Immunity, 2003
Homologous proteins with different folds: the three-dimensional structures of domains 1 and 6 of the multiple Kazal-type inhibitor LEKTI.
Lauber T et al.
Journal of Molecular Biology, 2003
Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population.
Kato A et al.
The British Journal of Dermatology, 2003