Associated Papers
Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S et al.
Nature Genetics, 2025
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss.
Wu S et al.
Developmental Cell, 2025
CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture.
Giese APJ et al.
Disease Models & Mechanisms, 2025
Structural insights into calcium-dependent CIB2-TMC1 interaction in hair cell mechanotransduction.
Li Y et al.
Communications Biology, 2025
CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern.
Giese APJ et al.
Biorxiv : the Preprint Server for Biology, 2024
Calcium and Integrin-binding protein 2 (CIB2) controls force sensitivity of the mechanotransducer channels in cochlear outer hair cells.
Aristizábal-Ramírez I et al.
Biorxiv : the Preprint Server for Biology, 2023
Mechanoelectrical transduction-related genetic forms of hearing loss.
Jung J et al.
Current Opinion in Physiology, 2023
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.
Liang X et al.
Neuron, 2021
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 2020
Variants in CIB2 cause DFNB48 and not USH1J.
Booth KT et al.
Clinical Genetics, 2018
Preferential Binding of Mg2+ Over Ca2+ to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J.
Vallone R et al.
Frontiers in Molecular Neuroscience, 2018
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Michel V et al.
Embo Molecular Medicine, 2017
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
Giese APJ et al.
Nature Communications, 2017
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2017
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
Seco CZ et al.
European Journal of Human Genetics : Ejhg, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.
Jan A
Clinical Genetics, 2013
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Riazuddin S et al.
Nature Genetics, 2012