Cargando…

ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells

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 epithe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Morozko, Eva L., Nishio, Ayako, Ingham, Neil J., Chandra, Rashmi, Fitzgerald, Tracy, Martelletti, Elisa, Borck, Guntram, Wilson, Elizabeth, Riordan, Gavin P., Wangemann, Philine, Forge, Andrew, Steel, Karen P., Liddle, Rodger A., Friedman, Thomas B., Belyantseva, Inna A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291242/ https://www.ncbi.nlm.nih.gov/pubmed/25217574 http://dx.doi.org/10.1093/hmg/ddu474

Ejemplares similares

Deficiency of Angulin-2/ILDR1, a Tricellular Tight Junction-Associated Membrane Protein, Causes Deafness with Cochlear Hair Cell Degeneration in Mice
por: Higashi, Tomohito, et al.
Publicado: (2015)

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families
por: Wang, Xueling, et al.
Publicado: (2018)

Angulin-2/ILDR1, a tricellular tight junction protein, does not affect water transport in the mouse large intestine
por: Hempstock, Wendy, et al.
Publicado: (2020)

Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function
por: Nakanishi, Hiroshi, et al.
Publicado: (2018)

Molecular epidemiology of DFNB1 deafness in France
por: Roux, Anne-Françoise, et al.
Publicado: (2004)

Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain
por: Kim, Nayoung K. D., et al.
Publicado: (2015)

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness
por: Tona, Risa, et al.
Publicado: (2020)

ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42
por: Sang, Qing, et al.
Publicado: (2015)

Failure of Fluid Absorption in the Endolymphatic Sac Initiates Cochlear Enlargement that Leads to Deafness in Mice Lacking Pendrin Expression
por: Kim, Hyoung-Mi, et al.
Publicado: (2010)

Epithelial Cell Stretching and Luminal Acidification Lead to a Retarded Development of Stria Vascularis and Deafness in Mice Lacking Pendrin
por: Kim, Hyoung-Mi, et al.
Publicado: (2011)

Ildr1 gene deletion protects against diet-induced obesity and hyperglycemia
por: Chandra, Rashmi, et al.
Publicado: (2022)

Molecular organization of tricellular tight junctions
por: Furuse, Mikio, et al.
Publicado: (2014)

Tricellular Tight Junctions in the Inner Ear
por: Kitajiri, Shin-ichiro, et al.
Publicado: (2016)

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population
por: Kim, So Young, et al.
Publicado: (2015)

The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness
por: Jiang, Fangfang, et al.
Publicado: (2021)

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
por: Abbasi, Zahra, et al.
Publicado: (2023)

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
por: Riazuddin, Saima, et al.
Publicado: (2012)

Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population
por: Bashir, Zil-e-Huma, et al.
Publicado: (2012)

Accelerated Age-Related Degradation of the Tectorial Membrane in the Ceacam16(βgal/βgal) Null Mutant Mouse, a Model for Late-Onset Human Hereditary Deafness DFNB113
por: Goodyear, Richard J., et al.
Publicado: (2019)

The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar
por: Ali, Zafar, et al.
Publicado: (2012)

ILDR2 has a negligible role in hepatic steatosis
por: Millings, Elizabeth J., et al.
Publicado: (2018)

ILDR2 stabilization is regulated by its interaction with GRP78
por: Watanabe, Kazuhisa, et al.
Publicado: (2021)

Analyses of the expression and prognosis of ILDR1 in human gastric cancer
por: Wang, Li, et al.
Publicado: (2022)

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss
por: MASOUDI, Marjan, et al.
Publicado: (2016)

Mouse Models for Pendrin-Associated Loss of Cochlear and Vestibular Function
por: Wangemann, Philine
Publicado: (2013)

Imaging effects of hyperosmolality on individual tricellular junctions
por: Huang, Kaixiang, et al.
Publicado: (2019)

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran
por: Laleh, Masoud Akbarzadeh, et al.
Publicado: (2017)

Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
por: NASERI, Marzieh, et al.
Publicado: (2018)

The Role of Tricellular Junctions in the Transport of Macromolecules Across Endothelium
por: Ghim, Mean, et al.
Publicado: (2020)

ILDR2: An Endoplasmic Reticulum Resident Molecule Mediating Hepatic Lipid Homeostasis
por: Watanabe, Kazuhisa, et al.
Publicado: (2013)

Angulin proteins ILDR1 and ILDR2 regulate alternative pre-mRNA splicing through binding to splicing factors TRA2A, TRA2B, or SRSF1
por: Liu, Yueyue, et al.
Publicado: (2017)

Role of Tricellular Tight Junction Protein Lipolysis-Stimulated Lipoprotein Receptor (LSR) in Cancer Cells
por: Kohno, Takayuki, et al.
Publicado: (2019)

Pyk2-dependent phosphorylation of LSR enhances localization of LSR and tricellulin at tricellular tight junctions
por: Nakatsu, Daiki, et al.
Publicado: (2019)

Expression of tricellular tight junction proteins and the paracellular macromolecule barrier are recovered in remission of ulcerative colitis
por: Hu, Jia-Chen E., et al.
Publicado: (2021)

ILDR1 promotes influenza A virus replication through binding to PLSCR1
por: Liu, Yueyue, et al.
Publicado: (2022)

Tricellulin secures the epithelial barrier at tricellular junctions by interacting with actomyosin
por: Cho, Yuma, et al.
Publicado: (2022)

Angulin-1 seals tricellular contacts independently of tricellulin and claudins
por: Sugawara, Taichi, et al.
Publicado: (2021)

LSR/angulin-1 is a tricellular tight junction protein involved in blood–brain barrier formation
por: Sohet, Fabien, et al.
Publicado: (2015)

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population
por: Romanov, Georgii P., et al.
Publicado: (2022)

Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells
por: Ikenouchi, Junichi, et al.
Publicado: (2005)

Cannot write session to /tmp/vufind_sessions/sess_778fk3pgvvqkr9bjc2ejcgo2qm