Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness

No abstract is available for this paper.

• Publication year

  2007

• Venue

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

• Publication date

  2007-01-23

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1073/pnas.0606855104PMID 17227867PMCID PMC1783143
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.

  2005cited by this paper
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  2004cited by this paper
• The Role of Connexins in Human Disease

  2003cited by this paper
• Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.

  2003cited by this paper
• Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

  2003cited by this paper
• Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

  2003cited by this paper
• Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice.

  2003cited by this paper
• Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death.

  2002cited by this paper
• Expression patterns of aquaporins in the inner ear: evidence for concerted actions of multiple types of aquaporins to facilitate water transport in the cochlea.

  2002cited by this paper
• Targeted Ablation of Connexin 26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death

  2002cited by this paper
• A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

  2002cited by this paper
• Unique and Redundant Connexin Contributions to Lens Development

  2002cited by this paper
• The prevalence of connexin 26 (GJB2) mutations in the Chinese population

  2002cited by this paper
• Gap junction systems in the mammalian cochlea.

  2000cited by this paper
• Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

  2000cited by this paper
• Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

  1999cited by this paper
• Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.

  1998cited by this paper
• Connexin-26 mutations in sporadic and inherited sensorineural deafness.

  1998cited by this paper
• Expression of the gap-junction connexins 26 and 30 in the rat cochlea

  1998cited by this paper
• Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

  1998cited by this paper
• Homologous recombination based modification in Esherichia coli and germline transmission in transgenic mice of a bacterial artificial chromsome

  1997cited by this paper
• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

  1997cited by this paper
• Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

  1997cited by this paper
• Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.

  1996cited by this paper
• A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

  1994cited by this paper

• Mechanisms of congenital hearing loss caused by GJB2 gene mutations and current progress in gene therapy.

  2025cites this paper
• Common genetic etiologies of sensorineural hearing loss in Koreans

  2024cites this paper
• A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function

  2024cites this paper
• An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities

  2024cites this paper
• The Role of Connexin26 and Connexin30 in the Mouse Cochlea of Noise-Induced Hearing Loss.

  2024cites this paper
• Connecting the dots on connexin function

  2024cites this paper
• GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells

  2024cites this paper
• A Review of Gap Junction Protein and its Potential Role in Nervous System-Related Disease.

  2023cites this paper
• The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice

  2023influential citation
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  2023cites this paper
• Connexin 30 deletion exacerbates cochlear senescence and age-related hearing loss

  2022cites this paper
• Connexin30-Deficiency Causes Mild Hearing Loss With the Reduction of Endocochlear Potential and ATP Release

  2022cites this paper
• Connexin Mutations and Hereditary Diseases

  2022cites this paper
• Virally Mediated Connexin 26 Expression in Postnatal Scala Media Significantly and Transiently Preserves Hearing in Connexin 30 Null Mice

  2022influential citation
• ZBTB20 is essential for cochlear maturation and hearing in mice

  2022cites this paper
• GJB2 and GJB6 gene transcripts in the human cochlea: A study using RNAscope, confocal, and super-resolution structured illumination microscopy

  2022cites this paper
• Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome

  2021cites this paper
• Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation

  2021cites this paper
• Gene Therapy to the Retina and the Cochlea

  2021cites this paper
• Adeno-associated virus gene replacement for recessive inner ear dysfunction: Progress and challenges.

  2020cites this paper
• Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana

  2020cites this paper
• Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden

  2020cites this paper
• Mechanisms of hearing loss and cell death in the cochlea of connexin mutant mice.

  2020cites this paper
• Emerging approaches for restoration of hearing and vision.

  2020cites this paper
• Adaptor protein-3 complex is required for Vangl2 trafficking and planar cell polarity of the inner ear

  2019cites this paper
• Structure and Function of Cochlear Gap Junctions and Implications for the Translation of Cochlear Gene Therapies

  2019cites this paper
• Gene therapy for genetic mutations affecting non-sensory cells in the cochlea.

  2019cites this paper
• ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

  2019cites this paper
• Toward Cochlear Therapies.

  2018cites this paper
• Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.

  2018cites this paper
• Engraftment of Human Pluripotent Stem Cell-derived Progenitors in the Inner Ear of Prenatal Mice

  2018cites this paper
• Chronic prenatal hypoxia impairs cochlear development, a mechanism involving connexin26 expression and promoter methylation

  2017cites this paper
• Emerging Gene Therapies for Genetic Hearing Loss

  2017cites this paper
• In vivo genetic manipulation of inner ear connexin expression by bovine adeno-associated viral vectors

  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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• Transplanting mouse induced pluripotent stem cells into mouse otocysts in vivo.

  2017cites this paper
• A connexin30 mutation rescues hearing and reveals roles for gap junctions in cochlear amplification and micromechanics

  2017cites this paper
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  2017cites this paper
• Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma

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• Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness.

  2015cites this paper
• Mechanisms linking connexin mutations to human diseases

  2015cites this paper
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• Assembly of the cochlear gap junction macromolecular complex requires connexin 26.

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• Connexins and gap junctions in the inner ear – it’s not just about K+ recycling

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• Reduced expression of Connexin26 and its DNA promoter hypermethylation in the inner ear of mimetic aging rats induced by d-galactose.

  2014cites this paper
• Genetics of auditory mechano-electrical transduction

  2014cites this paper
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• Gene therapy for the inner ear.

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• Virally-expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice

  2013cites this paper
• Protection of Spiral Ganglion Neurons from Degeneration Using Small-Molecule TrkB Receptor Agonists

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  2013cites this paper
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  2013cites this paper
• [Gene therapy for human hearing loss: challenges and promises].

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  2013cites this paper
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  2012cites this paper
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  2012cites this paper
• Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions.

  2012influential citation
• Ca2+ homeostasis defects and hereditary hearing loss.

  2011cites this paper
• Connexin32 can restore hearing in connexin26 deficient mice.

  2011cites this paper
• Ablation of connexin30 in transgenic mice alters expression patterns of connexin26 and connexin32 in glial cells and leptomeninges

  2011cites this paper
• Viral vector tropism for supporting cells in the developing murine cochlea.

  2011cites this paper
• The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.

  2011cites this paper
• Early detection of hearing impairment in newborns and infants.

  2011cites this paper
• Diversity and properties of connexin gap junction channels.

  2010cites this paper
• Gap Junctions and Connexins: The Molecular Genetics of Deafness

  2010cites this paper
• Inner ear connexins, intercellular signalling and deafness

  2010cites this paper
• Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

  2010cites this paper
• The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

  2010cites this paper
• Connexin modulators and their potential targets under the magnifying glass.

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• Gap junctions in inherited human disease

  2010cites this paper
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  2010cites this paper
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  2009cites this paper
• Targeted connexin26 ablation arrests postnatal development of the organ of Corti.

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• Gene therapy and stem cell transplantation: strategies for hearing restoration.

  2009cites this paper
• Connexin-Caused Genetic Diseases and Corresponding Mouse Models

  2009cites this paper
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  2009cites this paper
• Biogenesis and Degradation of Gap Junctions

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  2009cites this paper
• Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

  2009cites this paper