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Article

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.

PloS one - 1 Jan 2015

Kim Nayoung K D, Higashi Tomohito, Lee Kyoung Yeul, Kim Ah Reum, Kitajiri Shin-ichiro, Kim Min Young, Chang Mun Young, Kim Veronica, Oh Seung-Ha, Kim Dongsup, Furuse Mikio, Park Woong-Yang, Choi Byung Yoon

Abstract excerpt

The immunoglobulin (Ig)-like domain containing receptor 1 (ILDR1) gene encodes angulin-2/ILDR1, a recently discovered tight junction protein, which forms tricellular tight junction (tTJ) structures with tricellulin and lipolysis-stimulated lipoprotein receptor (LSR) at tricellular contacts (TCs) in the inner ear. Previously reported recessive mutations within ILDR1 have been shown to cause severe to profound...

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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: 25668204
DOI: 10.1371/journal.pone.0116931
PMCID: PMC4323246

Genes

ILDR1
LSR

Variants

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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