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Article

Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.

PloS one - 3 Jun 2009

Rodriguez Santiago, Hall Amanda J, Granell Raquel, McLean W H Irwin, Irvine Alan D, Palmer Colin N A, Smith George Davey, Henderson John, Day Ian N M

Abstract excerpt

BACKGROUND: Filaggrin is a major protein in the epidermis. Several mutations in the filaggrin gene (FLG) have been associated with a number of conditions. Filaggrin is expressed in the tympanic membrane and could alter its mechanical properties, but the relationship between genetic variation in FLG and hearing has not yet been tested. METHODOLOGY/PRINCIPAL FINDINGS: We examined whether loss-of function mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19492053
DOI: 10.1371/journal.pone.0005784
PMCID: PMC2685991

Genes

FLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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