Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Journal of Cell Science

• Publication date

  2005-10-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1242/jcs.02636PMID 16219682
• 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.

• Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

  2005cited by this paper
• Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells.

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  2005cited by this paper
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  2005cited by this paper
• Functional Analysis of Slac2-c/MyRIP as a Linker Protein between Melanosomes and Myosin VIIa*[boxs]

  2005cited by this paper
• The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

  2005cited by this paper
• Development and properties of stereociliary link types in hair cells of the mouse cochlea

  2005influential reference
• Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).

  2005cited by this paper
• Interactions in the network of Usher syndrome type 1 proteins.

  2005influential reference
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  2004cited by this paper
• A microtubule-binding myosin required for nuclear anchoring and spindle assembly

  2004cited by this paper
• Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

  2004cited by this paper
• Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells

  2004influential reference
• TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells

  2004cited by this paper
• The co-workers of actin filaments: from cell structures to signals

  2004cited by this paper
• Magic touch: how does cell-cell adhesion trigger actin assembly?

  2004cited by this paper
• Genetic insights into the morphogenesis of inner ear hair cells

  2004cited by this paper
• Unconventional myosin VIIa and vezatin, two proteins crucial for Listeria entry into epithelial cells

  2004cited by this paper
• Cilia and flagella revealed: from flagellar assembly in Chlamydomonas to human obesity disorders.

  2004cited by this paper
• Cadherin 23 is a component of the tip link in hair-cell stereocilia

  2004cited by this paper
• Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein

  2003cited by this paper
• Assessment of retinal structure and function in Ames waltzer mice.

  2003cited by this paper
• PCDH 15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH 1 F and DFNB 23

  2003influential reference
• Tensegrity I. Cell structure and hierarchical systems biology

  2003cited by this paper
• Developmental acquisition of sensory transduction in hair cells of the mouse inner ear

  2003cited by this paper
• Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

  2003cited by this paper
• Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.

  2003cited by this paper
• Characterization of the Motor Activity of Mammalian Myosin VIIA*

  2003influential reference
• Adaptation in auditory hair cells.

  2003cited by this paper
• Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

  2003cited by this paper
• NompC TRP Channel Required for Vertebrate Sensory Hair Cell Mechanotransduction

  2003cited by this paper
• Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration.

  2003cited by this paper
• PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

  2003influential reference
• Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites

  2003influential reference
• Mouse models of USH 1 C and DFNB 18 : phenotypic and molecular analyses of two new spontaneous mutations of the Ush 1 c gene

  2003influential reference
• Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.

  2003influential reference
• Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

  2002influential reference
• Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

  2002cited by this paper
• A chemical-genetic strategy implicates myosin-1c in adaptation by hair cells.

  2002cited by this paper
• Reduced climbing and increased slipping adaptation in cochlear hair cells of mice with Myo7a mutations

  2002influential reference
• Slac2-c (Synaptotagmin-like Protein HomologueLacking C2 Domains-c), a Novel Linker Protein that Interacts with Rab27, Myosin Va/VIIa, and Actin*

  2002cited by this paper
• Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

  2002influential reference
• MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

  2002cited by this paper
• Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice.

  2002cited by this paper
• Structural cell biology: Rapid renewal of auditory hair bundles

  2002cited by this paper
• The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

  2002cited by this paper
• Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

  2001cited by this paper
• Usher syndrome: from genetics to pathogenesis.

  2001cited by this paper
• Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B).

  2001cited by this paper
• Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.

  2001cited by this paper
• Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

  2001cited by this paper
• A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival.

  2001cited by this paper
• A role for myosin VII in dynamic cell adhesion.

  2001cited by this paper
• Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

  2001influential reference
• Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

  2001cited by this paper
• The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

  2001cited by this paper
• Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

  2001cited by this paper
• A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

  2000cited by this paper
• Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.

  2000cited by this paper
• Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin–catenins complex

  2000cited by this paper
• A class VII unconventional myosin is required for phagocytosis.

  1999cited by this paper
• Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium

  1999cited by this paper
• The Ankle-Link Antigen: an Epitope Sensitive to Calcium Chelation Associated with the Hair-Cell Surface and the Calycal Processes of Photoreceptors

  1999cited by this paper
• Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells.

  1998influential reference
• Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

  1998cited by this paper
• Unconventional Myosins in Inner-Ear Sensory Epithelia

  1997cited by this paper
• HIV-1: Gambling on the evolution of drug resistance?

  1997cited by this paper
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  1997cited by this paper
• Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

  1997cited by this paper
• Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

  1997cited by this paper
• The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

  1997cited by this paper
• Molecular Cloning and Domain Structure of Human Myosin-VIIa , the Gene Product Defective in Usher Syndrome 1 B

  1996cited by this paper
• Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.

  1996cited by this paper
• Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.

  1996cited by this paper
• Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

  1996cited by this paper
• Defective myosin VIIA gene responsible for Usher syndrome type IB

  1995cited by this paper
• A type VII myosin encoded by the mouse deafness gene shaker-1

  1995cited by this paper
• Ultrastructural findings in the inner ear of Jackson shaker mice.

  1992cited by this paper
• Actin filaments, stereocilia, and hair cells: how cells count and measure.

  1992influential reference
• The development of links between stereocilia in hair cells of the chick basilar papilla.

  1991cited by this paper
• Compliance of the hair bundle associated with gating of mechanoelectrical transduction channels in the bullfrog's saccular hair cell.

  1988cited by this paper
• VERTEBRATE RETINAL CELLS AND THEIR ORGANIZATION

  1963cited by this paper

• Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives

  2025cites this paper
• NGS-based identification of a MYO7A mutation in a Korean family with DFNB2, a subtype of autosomal recessive non-syndromic hearing loss

  2025cites this paper
• Select autosomal dominant DFNA11 deafness mutations activate Myo7A targeting in epithelial cells.

  2025cites this paper
• Biomolecular condensates and disease pathogenesis

  2024cites this paper
• Origin and evolution of microvilli

  2024cites this paper
• The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

  2024cites this paper
• Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report

  2023cites this paper
• USHER SYNDROME AND ITS GENETIC CHARACTERIZATION

  2023cites this paper
• Liquid-liquid phase separation in hair cell stereocilia development and maintenance

  2023cites this paper
• Myosins and membrane trafficking in intestinal brush border assembly.

  2022cites this paper
• AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness

  2022cites this paper
• Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

  2022cites this paper
• Immunohistochemistry localises myosin-7a to cochlear efferent boutons

  2022cites this paper
• Unconventional Myosins from Caenorhabditis elegans as a Probe to Study Human Orthologues

  2022cites this paper
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  2022influential citation
• The morphological and functional diversity of apical microvilli

  2022cites this paper
• Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon

  2022cites this paper
• Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes

  2022cites this paper
• Usher Syndrome

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• Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives

  2021cites this paper
• Expression and subcellular localization of USH1C/harmonin in the human retina provides insights into pathophysiology and therapy of Usher syndrome

  2021cites this paper
• Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations

  2021cites this paper
• Structure and Membrane Targeting of the PDZD7 Harmonin Homology Domain (HHD) Associated With Hearing Loss

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• Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice

  2020cites this paper
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  2020cites this paper
• Mutations in Drosophila crinkled/Myosin VIIA disrupt denticle morphogenesis.

  2020influential citation
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• Diseases of the ear

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• Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

  2019cites this paper
• Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.

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• Hair-Bundle Links: Genetics as the Gateway to Function.

  2019cites this paper
• Gene therapy and the adeno‐associated virus in the treatment of genetic and acquired ophthalmic diseases in humans: Trials, future directions and safety considerations

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• Hair Cell Afferent Synapses: Function and Dysfunction.

  2019cites this paper
• SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins

  2019cites this paper
• Antisense Oligonucleotides for the Treatment of Inner Ear Dysfunction

  2019cites this paper
• Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins

  2018cites this paper
• Usher Syndrome and Color Vision

  2018cites this paper
• Hair Hair Bundle Bundle Development Development by by Destabilizing Destabilizing the the Physical Physical Interaction Interaction between between Harmonin Harmonin and and Sans Sans Usher Usher Syndrome Syndrome Proteins Proteins Graphical

  2018cites this paper
• Das Usher-Syndrom, eine Ziliopathie des Menschen

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• Mechanisms of force generation for vesicle transport processes: identification and characterisation of the Spir actin nucleator - myosin V motor protein complex

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• Functional Analysis of the Transmembrane and Cytoplasmic Domains of Pcdh15a in Zebrafish Hair Cells

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• Cilia - The sensory antennae in the eye.

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• Zebrafish models of human eye and inner ear diseases.

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• Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex

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• Genetic screening revealed usher syndrome in a paediatric Chinese patient

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• Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins

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• Molecular Genetics of Usher Syndrome: Current State of Understanding

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• Epidemiology and Genetics of Hearing Loss and Tinnitus

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• Identification of a novel MYO7A mutation in Usher syndrome type 1

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  2013cites this paper
• Developmental failure in cochlear hair cells from mouse models of Usher syndrome and the identification of an acid sensitive ionic current in Inner and Outer hair cells

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