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Article

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk.

The Journal of investigative dermatology - 1 Dec 2016

Manz Judith, Rodríguez Elke, ElSharawy Abdou, Oesau Eva-Maria, Petersen Britt-Sabina, Baurecht Hansjörg, Mayr Gabriele, Weber Susanne, Harder Jürgen, Reischl Eva, Schwarz Agatha, Novak Natalija, Franke Andre, Weidinger Stephan

Abstract excerpt

Gene-mapping studies have consistently identified a susceptibility locus for atopic dermatitis and other inflammatory diseases on chromosome band 11q13.5, with the strongest association observed for a common variant located in an intergenic region between the two annotated genes C11orf30 and LRRC32. Using a targeted resequencing approach we identified low-frequency and rare missense mutations within the LRRC32...

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Share to Dermatitis, Atopic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Real-Time Polymerase Chain Reaction

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Share to Sequence Deletion

Share to T-Lymphocytes, Regulatory

Source

Identifiers

PMID: 27448748
DOI: 10.1016/j.jid.2016.07.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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