Results 51 to 60 of about 2,702,233 (230)
Molecular and functional characterization of gap junctions in the avian inner ear. [PDF]
To analyze the fundamental role of gap junctions in the vertebrate inner ear, we examined molecular and functional characteristics of gap junctional communication (GJC) in the auditory and vestibular system of the chicken.
Nickel, R, Becker, D, Forge, A
core
Background: Keratitis-ichthyosis-deafness syndrome (KID syndrome) is an extremely rare disorder. Inheritance is autosomal dominant but many cases occur sporadically following a spontaneous mutation. The cause of KID syndrome are missense mutations of the
Barbara Binder +7 more
core +1 more source
The study establishes an immune‐cure (ICu) mouse model based on a TMEMed G422TN‐GBM system that faithfully recapitulates human TMEMed GBM. scRNA‐seq analysis reveals a Csmd3+ microglial subset with innate immune memory (IIM) potential that potently suppresses GBM growth, drives a TME cold‐to‐hot transition, and induces 100% ICu in long‐term survival ...
Hai‐Feng Jiang +12 more
wiley +1 more source
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. [PDF]
Contains fulltext : 189194.pdf (Publisher’s version ) (Closed access)Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis.
Steijlen, P.M. +4 more
core +2 more sources
Genetic analysis of the connexin-26 M34T variant [PDF]
Editor—Existing published data cannot conclusively determine if the M34T allele of connexin-26 ( GJB2 ) is a recessive allele causing hearing loss. The recent article by Houseman et al ( J Med Genet 2001; 38 :20-5) “Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic ...
openaire +2 more sources
Mutation analysis of the GJB2 (Connexin 26) gene in Egypt [PDF]
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in 159 Egyptians from 111 families with non-syndromic ...
Snoeckx, Rikkert L. +4 more
openaire +3 more sources
Studies of intercellular Ca2+ signaling and gap-junction coupling in the developing cochlea of mouse models affected by congenital hearing loss [PDF]
Connexin 26 (Cx26) and connexin 30 (Cx30) form gap junction channels that allow the intercellular diffusion of the Ca2+ mobilizing second messenger IP3.
Rodriguez Hernandez, Laura
core
Functional implications of calcium permeability of the channel formed by pannexin 1. [PDF]
Although human pannexins (PanX) are homologous to gap junction molecules, their physiological function in vertebrates remains poorly understood. Our results demonstrate that overexpression of PanX1 results in the formation of Ca(2+)-permeable gap ...
Ivanov, Dmitry, V +31 more
core +1 more source
Impaired MEC astrocytic Ca2+ signaling is associated with fragmented spatial exploration in AD mice. Region‐specific glial progenitor transplantation generates engrafted astrocytes that are accompanied by improved AQP4 polarization, reduced amyloid‐β‐associated pathology, attenuated neuroinflammation, preserved synaptic integrity, and ameliorated ...
Fengjuan Wu +16 more
wiley +1 more source
Connexin-43 Depletion in Tip60-Depleted Hearts.
Heart samples were immunostained (A-D) or western blotted (E-F) to detect connexin-43. Panels A-D reveal that progressively diminished expression in the intercalated disc transverse component occurs between weeks 4 and 8.
John Lough (17777) +5 more
core +1 more source

