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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Nature communications, 2017-06, Vol.8 (1), p.43-43, Article 43

2017

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Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

PLoS genetics, 2022-01, Vol.18 (1), p.e1009937-e1009937

2022

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The Mouse as a Model for Age-Related Hearing Loss - A Mini-Review

Gerontology (Basel), 2015-01, Vol.61 (2), p.149-157

2015

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Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness

The Journal of physiology, 2021-02, Vol.599 (4), p.1173-1198

2021

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Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors

Human mutation, 2010-03, Vol.31 (3), p.295-307

2010

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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Human molecular genetics, 2019-02, Vol.28 (4), p.584-597

2019

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Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells

The Journal of physiology, 2020-09, Vol.598 (18), p.3891-3910

2020

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Age-Related Hearing Loss

Cold Spring Harbor perspectives in biology, 2019-08, Vol.9 (8), p.a033217

2019

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Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

Genome medicine, 2016-02, Vol.8 (1), p.16-16, Article 16

2016

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BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing

Cell reports (Cambridge), 2024-04, Vol.43 (4), p.114025-114025, Article 114025

2024

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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

EMBO molecular medicine, 2017-12, Vol.9 (12), p.1711-1731

2017

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A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

Cell reports (Cambridge), 2018-12, Vol.25 (12), p.3315-3328.e6

2018

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Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss

The Journal of neuroscience, 2016-01, Vol.36 (1), p.222-234

2016

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Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

EMBO molecular medicine, 2019-09, Vol.11 (9), p.e10288-n/a

2019

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Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23ahl

iScience, 2023-10, Vol.26 (10), p.108056-108056, Article 108056

2023

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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

The Journal of clinical investigation, 2005-10, Vol.115 (10), p.2822-2831

2005

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Parafibromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice

Molecular and Cellular Biology, 2008-05, Vol.28 (9), p.2930-2940

2008

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Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

Endocrine-related cancer, 2009-12, Vol.16 (4), p.1313-1327

2009

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AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness

Molecular therapy. Methods & clinical development, 2022-09, Vol.26, p.355-370

2022

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Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

The Journal of biological chemistry, 2004-05, Vol.279 (21), p.22624-22634

2004

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The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells

Disease models & mechanisms, 2015-12, Vol.8 (12), p.1555-1568

2015

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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

Endocrine Connections, 2020-02, Vol.9 (2), p.173-186

2020

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Genetic landscape of auditory dysfunction

Human molecular genetics, 2018-08, Vol.27 (R2), p.R130-R135

2018

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Helios is a key transcriptional regulator of outer hair cell maturation

Nature (London), 2018-11, Vol.563 (7733), p.696-700

2018

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Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea

The Journal of physiology, 2020-10, Vol.598 (19), p.4339-4355

2020

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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

The Mouse as a Model for Age-Related Hearing Loss - A Mini-Review

Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells

Age-Related Hearing Loss

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23ahl

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

Parafibromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

Genetic landscape of auditory dysfunction

Helios is a key transcriptional regulator of outer hair cell maturation

Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea

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