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

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...

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Veröffentlicht in:	PloS one 2015-02, Vol.10 (2), p.e0116931-e0116931
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Asian Continental Ancestry Group Biology Deafness Ear Ear, Inner - metabolism Ear, Inner - pathology Electron microscopy Epithelial cells Genomes Genotype & phenotype Hair Hearing impairment Hearing loss Hearing Loss, High-Frequency - genetics Hearing Loss, Sensorineural - genetics Humans Immunoglobulins Influence Inner ear Lipolysis Medicine Models, Theoretical Molecular Sequence Data Mutation Otolaryngology Pathogenicity Pathogens Pedigree Permeability Physiology Protein Multimerization - genetics Protein Structure, Tertiary - genetics Proteins Receptors, Cell Surface - genetics Three dimensional models Tight Junctions - genetics Tight Junctions - metabolism University graduates
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