Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.R186W
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CIB2

NM_006383.4:p.R186W

Associated Papers

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

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

Yalcouyé A et al.

Hgg Advances, 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

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Antunes LN et al.

Frontiers in Genetics, 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

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

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

Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Mittal R et al.

Gene, 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

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Delio M et al.

Plos One, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."