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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

Human genetics, 2022-04, Vol.141 (3-4), p.363-382

2022

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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Nature communications, 2020-03, Vol.11 (1), p.1343-1343, Article 1343

2020

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Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice

PloS one, 2015-03, Vol.10 (3), p.e0120674-e0120674

2015

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Cochlear supporting cells function as macrophage-like cells and protect audiosensory receptor hair cells from pathogens

Scientific reports, 2020-04, Vol.10 (1), p.6740-6740, Article 6740

2020

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Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

Scientific reports, 2020-04, Vol.10 (1), p.7056-7056, Article 7056

2020

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

Proceedings of the National Academy of Sciences - PNAS, 2022-06, Vol.119 (26), p.e2115190119-e2115190119

2022

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POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

Human mutation, 2020-05, Vol.41 (5), p.913-920

2020

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Limited hair cell induction from human induced pluripotent stem cells using a simple stepwise method

Neuroscience letters, 2015-07, Vol.599, p.49-54

2015

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Virus-infection in cochlear supporting cells induces audiosensory receptor hair cell death by TRAIL-induced necroptosis

PloS one, 2021-11, Vol.16 (11), p.e0260443-e0260443

2021

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Analysis of the ‘angulin’ proteins LSR, ILDR1 and ILDR2 – tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

Journal of cell science, 2013-08, Vol.126 (16), p.3797-3797

2013

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Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

EMBO molecular medicine, 2016-11, Vol.8 (11), p.1310-1324

2016

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Tricellular Tight Junctions in the Inner Ear

BioMed research international, 2016-01, Vol.2016, p.6137541-5

2016

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Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

International journal of molecular sciences, 2019-09, Vol.20 (18), p.4579

2019

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Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

Cell, 2010-05, Vol.141 (5), p.786-798

2010

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A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

PloS one, 2017-08, Vol.12 (8), p.e0183477-e0183477

2017

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Tricellulin Is a Tight-Junction Protein Necessary for Hearing

American journal of human genetics, 2006-12, Vol.79 (6), p.1040-1051

2006

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The actin-bundling protein TRIOBP-4 and -5 promotes the motility of pancreatic cancer cells

Cancer letters, 2015-01, Vol.356 (2), p.367-373

2015

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Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

Journal of cell science, 2013-02, Vol.126 (Pt 4), p.966-977

2013

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Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

Genes, 2021-10, Vol.12 (10), p.1623

2021

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Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss

Genes, 2020-03, Vol.11 (3), p.273

2020

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Ethnic Differences in ATP-binding Cassette Transporter, Sub-family G, Member 2 (ABCG2/BCRP): Genotype Combinations and Estimated Functions

DRUG METABOLISM AND PHARMACOKINETICS, 2014, Vol.29 (6), p.490-492

2014

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Caprice/MISP is a novel F‐actin bundling protein critical for actin‐based cytoskeletal reorganizations

Genes to cells : devoted to molecular & cellular mechanisms, 2014-04, Vol.19 (4), p.338-349

2014

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Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells

Biology open, 2014-08, Vol.3 (8), p.759-766

2014

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Radixin Deficiency Causes Deafness Associated with Progressive Degeneration of Cochlear Stereocilia

The Journal of cell biology, 2004-08, Vol.166 (4), p.559-570

2004

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Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA -Associated Hearing Loss

Genes, 2019-09, Vol.10 (9), p.715

2019

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Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice

Cochlear supporting cells function as macrophage-like cells and protect audiosensory receptor hair cells from pathogens

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

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

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

Limited hair cell induction from human induced pluripotent stem cells using a simple stepwise method

Virus-infection in cochlear supporting cells induces audiosensory receptor hair cell death by TRAIL-induced necroptosis

Analysis of the ‘angulin’ proteins LSR, ILDR1 and ILDR2 – tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

Tricellular Tight Junctions in the Inner Ear

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing

A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

Tricellulin Is a Tight-Junction Protein Necessary for Hearing

The actin-bundling protein TRIOBP-4 and -5 promotes the motility of pancreatic cancer cells

Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss

Ethnic Differences in ATP-binding Cassette Transporter, Sub-family G, Member 2 (ABCG2/BCRP): Genotype Combinations and Estimated Functions

Caprice/MISP is a novel F‐actin bundling protein critical for actin‐based cytoskeletal reorganizations

Deafness in occludin-deficient mice with dislocation of tricellulin and progressive apoptosis of the hair cells

Radixin Deficiency Causes Deafness Associated with Progressive Degeneration of Cochlear Stereocilia

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA -Associated Hearing Loss

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