Associated Papers
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
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
Shadab M et al.
Journal of Cellular and Molecular Medicine, 2024
Myosin XVA isoforms participate in the mechanotransduction-dependent remodeling of the actin cytoskeleton in auditory stereocilia.
López-Porras AI et al.
Frontiers in Neurology, 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
Molecular genetic landscape of hereditary hearing loss in Pakistan.
Naz S
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 of a Human Ciliopathy.
Fuster-García C et al.
International Journal of Molecular Sciences, 2021
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K et al.
Journal of Human Genetics, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K et al.
Journal of Human Genetics, 2018
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
Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.
Shaikh H et al.
Biochemical Genetics, 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
Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice.
Wang Y et al.
Frontiers in Molecular Neuroscience, 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
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU et al.
European Journal of Human Genetics : Ejhg, 2015
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Patel K et al.
Plos One, 2015
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
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