ArticleEMBO molecular medicine2017
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
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Article in EMBO molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55citing papers in PubMed
4.6field-weighted citation impact, top 4% of its field
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Who cites it
55 citing papers in PubMed, 83 citations in OpenAlex.
- Rescue of stereocilia architecture and hearing function by AAV-CIB2 and AAV-CIB3 in a mouse model of recessive deafness DFNB48.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- PIPbioRxiv : the preprint server for biology · 2026Article
- Molecular identity of the mechanotransduction machinery in inner ear hair cells and mechanotransduction-linked hearing loss.Fundamental research · 2026Review
- Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Lipid Regulation of Mechanosensitive Ion Channels.International journal of molecular sciences · 2026Review
- Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.Nature genetics · 2025Article
- CIB2 function is distinct from that of whirlin in the organization of sterocilia architecture.Disease models & mechanisms · 2025Article
- The Diverse Functions of the Calcium- and Integrin-Binding Protein Family.International journal of molecular sciences · 2025Review
- Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels.eLife · 2025Article
- The Role of Calcium Signaling in Sensorineural Hearing Loss.International journal of medical sciences · 2025Review
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- LOXHD1 is indispensable for maintaining TMC1 auditory mechanosensitive channels at the site of force transmission.Nature communications · 2024Article
- CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase pattern.bioRxiv : the preprint server for biology · 2024Article
- Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels.bioRxiv : the preprint server for biology · 2024Article
- Sensory transduction in auditory hair cells-PIEZOs can't touch this.The Journal of general physiology · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- The Piezo channel is a mechano-sensitive complex component in the mammalian inner ear hair cell.Nature communications · 2024Article
- LOXHD1 is indispensable for coupling auditory mechanosensitive channels to the site of force transmission.Research square · 2024Article
- The actin cytoskeleton in hair bundle development and hearing loss.Hearing research · 2023Review
- Dyslexia-Related Hearing Loss Occurs Mainly through the Abnormal Spontaneous Electrical Activity of Spiral Ganglion Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
Corrections and comments
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Authors and funding
22 authors at 6 institutions in 4 countries.
Vincent MichelGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Kevin T BoothMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology- Head and Neck Surgery, University of Iowa, Iowa City, Iowa.
Pranav PatniGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Matteo CorteseGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Hela AzaiezMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology- Head and Neck Surgery, University of Iowa, Iowa City, Iowa.
Amel BahloulGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Kimia KahriziGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ménélik LabbéGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Alice EmptozGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Andrea LelliGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Julie DégardinSorbonne Universités, UPMC Univ Paris06, Paris, France.
Typhaine DupontGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Asadollah AghaieGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Danuta Oficjalska-PhamGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Serge PicaudSorbonne Universités, UPMC Univ Paris06, Paris, France.
Hossein NajmabadiGenetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Richard J SmithMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology- Head and Neck Surgery, University of Iowa, Iowa City, Iowa.
Michael R BowlMammalian Genetics Unit, MRC Harwell Institute, Oxford, UK.
Steven Dm BrownMammalian Genetics Unit, MRC Harwell Institute, Oxford, UK.
Paul AvanLaboratoire de Biophysique Sensorielle, Faculté de Médecine, Biophysique Médicale, Centre Jean Perrin, Université d'Auvergne, Clermont-Ferrand, France.
Christine PetitGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Aziz El-AmraouiGénétique et Physiologie de l'Audition, Institut Pasteur, Paris, France aziz.el-amraoui@pasteur.fr.ORCID 0000-0003-2692-4984
Inserm · FRInstitut de la Vision · FRUniversity of Iowa · USMary Lyon Centre at MRC Harwell · GBUniversity of Social Welfare and Rehabilitation Sciences · IRCentre Jean Perrin · FR
Funding
NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7MOptimizing Genetic Testing for Deafness for Clinical DiagnosticsR01DC012049 · NIDCD · UNIVERSITY OF IOWA · PI TERRY A BRAUN, Thomas L. Casavant · 2011 to 2026
$8.7MAUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSSR01DC003544 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1998 to 2017
$7.8MMedical Research Council MC_U142684175Medical Research Council MC_UP_1502/1NIDCD NIH HHS R01 DC002842NIDCD NIH HHS R01 DC003544NIDCD NIH HHS R01 DC012049
Abstract
Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. We report here two new nonsense mutations (pGln12* and pTyr110*) in
Indexed as
AnimalsAuditory ThresholdBehavior, AnimalCalcium-Binding ProteinsCell SurvivalDeafnessDisease Models, AnimalEyeFemaleHair Cells, Auditory, InnerHumansMaleMaze LearningMechanotransduction, CellularMembrane ProteinsMiceCalcium-Binding ProteinsCib2 protein, mouseMembrane ProteinsWhrn protein, mouseCIB proteinshuman and mouse deafnessUsher syndrome diagnosis
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.