ArticleAmerican journal of human genetics2006
Tricellulin is a tight-junction protein necessary for hearing.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 140 papers.
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Who cites it
140 citing papers in PubMed, 282 citations in OpenAlex.
- Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.PloS one · 2013Trial
- A small-molecule screen identifies that elafibranor links mechanical cues and Irf6-dependent epithelial differentiation.Disease models & mechanisms · 2026Article
- Architecture, permeability, disruption dynamics and remodeling of tight junction proteins: Implications for performance, health, and welfare of the broiler chicken.Poultry science · 2026Review
- Exploring claudin proteins: from sequence motifs to their impact on tight junction-mediated signaling pathways.Amino acids · 2025Review
- Roles of protein-protein interactions and monolayer mechanics in tricellulin localization to tricellular tight junctions.Biology open · 2025Article
- Tight Junction Proteins and Blood-brain Barrier Integrity in Pediatric Obsessive-compulsive Disorder: A Study on Claudin-5, Claudin-12, Occludin, Tricellulin, and Angulin-1.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2025Article
- Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.Nature chemical biology · 2025Article
- Bi-AllelicInternational journal of molecular sciences · 2025Article
- Loss of tricellular tight junction tricellulin leads to hyposalivation in Sjögren's syndrome.International journal of oral science · 2025Article
- Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families.Molecular genetics & genomic medicine · 2024Article
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.European journal of human genetics : EJHG · 2024Article
- The Segregation of p.Arg68Ter-Genes · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Palmitoylation of proteolipid protein M6 promotes tricellular junction assembly in epithelia of Drosophila.Journal of cell science · 2024Article
- Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?Audiology research · 2024Review
- Case report: A novel nonsense mutation in theFrontiers in genetics · 2024Article
- Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse.EMBO molecular medicine · 2023Article
- Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Cellular Distribution Pattern of tjp1 (ZO-1) in Xenopus laevis Oocytes Heterologously Expressing Claudins.The Journal of membrane biology · 2023Article
- Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review.Neuro-ophthalmology (Aeolus Press) · 2023Article
80 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
The inner ear has fluid-filled compartments of different ionic compositions, including the endolymphatic and perilymphatic spaces of the organ of Corti; the separation from one another by epithelial barriers is required for normal hearing. TRIC encodes tricellulin, a recently discovered tight-junction (TJ) protein that contributes to the structure and function of tricellular contacts of neighboring cells in many epithelial tissues. We show that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells. In the inner ear, tricellulin is concentrated at the tricellular TJs in cochlear and vestibular epithelia, including the structurally complex and extensive junctions between supporting and hair cells. We also demonstrate that there are multiple alternatively spliced isoforms of TRIC in various tissues and that mutations of TRIC associated with hearing loss remove all or most of a conserved region in the cytosolic domain that binds to the cytosolic scaffolding protein ZO-1. A wild-type isoform of tricellulin, which lacks this conserved region, is unaffected by the mutant alleles and is hypothesized to be sufficient for structural and functional integrity of epithelial barriers outside the inner ear.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.