Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
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
CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.
Liang X et al.
Neuron, 2021
Variants in CIB2 cause DFNB48 and not USH1J.
Booth KT et al.
Clinical Genetics, 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
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 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
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
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0