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Article

Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.

Experimental dermatology - 1 Dec 2010

Namkung Jung-Hyun, Lee Jong-Eun, Kim Eugene, Byun Ji-Yeon, Kim Sook, Shin Eun-Soon, Cho Eun-Young, Yang Jun-Mo

Abstract excerpt

Clinical studies, including twin studies, support the concept that the risk of atopic dermatitis (AD) may be mediated through skin-specific genes, rather than simply through systemic immune or atopy risk genes. The SPINK5 gene is expressed on epithelial surfaces and may provide protection against other allergenic serine proteases. Mutations in the SPINK5 gene result in Netherton syndrome, a disorder characterised...

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Source

Identifiers

PMID: 21087323
DOI: 10.1111/j.1600-0625.2010.01142.x

Genes

SPINK5
DEFB1

Provenance

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Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.PMID 21087323Read ↗

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Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population.Semantic proximity Read ↗

Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.Semantic proximity Read ↗

A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population.Semantic proximity Read ↗

SPINK5 is associated with early-onset and CHI3L1 with late-onset atopic dermatitis.Semantic proximity Read ↗

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.Semantic proximity Read ↗

Genetic polymorphisms in serine protease inhibitor Kazal-type 5 and risk of atopic dermatitis: A meta-analysis.Semantic proximity Read ↗

Meta-analysis of atopic dermatitis in 1,094,060 individuals identifies new risk loci, and sub-analysis characterizes the loci with disease severity and onsetSemantic proximity Read ↗

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