Risa Tona

Japan

Last Updated: 09/26/2026

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Found 24 publications

Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.

Taperin bundles F-actin at stereocilia pivot points enabling optimal lifelong mechanosensitivity.

Journal: The Journal of cell biology

Published: August 05, 2024

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.

Journal: The Journal of biological chemistry

Published: March 27, 2024

Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP.

Unbalanced bidirectional radial stiffness gradients within the organ of Corti promoted by TRIOBP.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 23, 2022

Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Journal: Human genetics

Published: November 02, 2021

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Journal: Human genetics

Published: June 01, 2021

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

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

Journal: European journal of human genetics : EJHG

Published: March 26, 2021

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

Journal: Genes

Published: September 03, 2020

Variants of human CLDN9 cause mild to profound hearing loss.

Variants of human CLDN9 cause mild to profound hearing loss.

Journal: Human mutation

Published: August 31, 2020

Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

Noncoding Microdeletion in Mouse Hgf Disrupts Neural Crest Migration into the Stria Vascularis, Reduces the Endocochlear Potential, and Suggests the Neuropathology for Human Nonsyndromic Deafness DFNB39.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: September 20, 2019

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.

TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.

Journal: JCI insight

Published: March 04, 2019

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.

Journal: Human molecular genetics

Published: October 28, 2018

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Journal: Human mutation

Published: July 09, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026