CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival - Michel, Vincent; Booth, Kevin T; Patni, Pranav; Cortese, Matteo; Azaiez, Hela; Bahloul, Amel; Kahrizi, Kimia; Labbé, Ménélik; Emptoz, Alice; Lelli, Andrea; Dégardin, Julie; Dupont, Typhaine; et al. (EMBO molecular medicine, 2017)
Keywords: Animals; Auditory Threshold; Balance; Behavior, Animal; Blindness; Calcium-binding protein; Calcium-Binding Proteins - deficiency; Calcium-Binding Proteins - genetics; Cell death; Cell Survival; Cib protein; CIB proteins; Cochlea; Deafness; Deafness - diagnosis; Deafness - genetics; Defects; Disease Models, Animal; EMBO16; EMBO27; Extracellular matrix; Eye - diagnostic imaging; Eye - pathology; Female; Hair cells; Hair Cells, Auditory, Inner - metabolism; Hair Cells, Auditory, Inner - pathology; Hearing loss; Hearing protection; human and mouse deafness; Human health and pathology; Humans; Integrins; Life Sciences; Male; Maze Learning; Mechanotransduction; Mechanotransduction, Cellular - physiology; Membrane Proteins - metabolism; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Pedigree; Polymorphism, Single Nucleotide; Research Article; Retina; Retina - pathology; Retina - physiology; Retinitis; Retinitis pigmentosa; Sensory Organs; Signal transduction; Usher syndrome diagnosis; Vestibular system; Vision; CIB proteins; human and mouse deafness; Usher syndrome diagnosis; Neuroscience; Usher syndrome diagnosis Subject Categories Genetics; Gene Therapy & Genetic Disease