Ontology highlight
ABSTRACT:
SUBMITTER: Morozko EL
PROVIDER: S-EPMC4291242 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Morozko Eva L EL Nishio Ayako A Ingham Neil J NJ Chandra Rashmi R Fitzgerald Tracy T Martelletti Elisa E Borck Guntram G Wilson Elizabeth E Riordan Gavin P GP Wangemann Philine P Forge Andrew A Steel Karen P KP Liddle Rodger A RA Friedman Thomas B TB Belyantseva Inna A IA
Human molecular genetics 20140912 3
In the mammalian inner ear, bicellular and tricellular tight junctions (tTJs) seal the paracellular space between epithelial cells. Tricellulin and immunoglobulin-like (Ig-like) domain containing receptor 1 (ILDR1, also referred to as angulin-2) localize to tTJs of the sensory and non-sensory epithelia in the organ of Corti and vestibular end organs. Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. However, the pathophysiology of DFN ...[more]