Ontology highlight
ABSTRACT:
SUBMITTER: Nayak G
PROVIDER: S-EPMC3754262 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Nayak Gowri G Lee Sue I SI Yousaf Rizwan R Edelmann Stephanie E SE Trincot Claire C Van Itallie Christina M CM Sinha Ghanshyam P GP Rafeeq Maria M Jones Sherri M SM Belyantseva Inna A IA Anderson James M JM Forge Andrew A Frolenkov Gregory I GI Riazuddin Saima S
The Journal of clinical investigation 20130827 9
The two compositionally distinct extracellular cochlear fluids, endolymph and perilymph, are separated by tight junctions that outline the scala media and reticular lamina. Mutations in TRIC (also known as MARVELD2), which encodes a tricellular tight junction protein known as tricellulin, lead to nonsyndromic hearing loss (DFNB49). We generated a knockin mouse that carries a mutation orthologous to the TRIC coding mutation linked to DFNB49 hearing loss in humans. Tricellulin was absent from the ...[more]