Associated Papers
Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.
Caragli V et al.
Genes, 2025
A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function.
Sanchez HA et al.
The Journal of General Physiology, 2024
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss.
Kelly JJ et al.
Journal of Cell Science, 2019
30559251 (PubMed )
Supplement: supplement_1.pdf
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.
García IE et al.
The Journal of Investigative Dermatology, 2016
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.
Esmer C et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0
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