Published in Development on March 13, 2008
Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell (2009) 2.46
Review series: The cell biology of hearing. J Cell Biol (2010) 2.29
Linking genes underlying deafness to hair-bundle development and function. Nat Neurosci (2009) 1.95
Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron (2009) 1.63
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci U S A (2011) 1.62
TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell (2012) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc Natl Acad Sci U S A (2009) 1.39
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet (2008) 1.36
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A (2011) 1.30
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells. Pflugers Arch (2009) 1.30
Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development (2011) 1.27
Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors. Hear Res (2009) 1.26
The small GTPase Rac1 regulates auditory hair cell morphogenesis. J Neurosci (2009) 1.24
The physiology of mechanoelectrical transduction channels in hearing. Physiol Rev (2014) 1.23
Cadherins and mechanotransduction by hair cells. Curr Opin Cell Biol (2008) 1.23
Primary cilia in planar cell polarity regulation of the inner ear. Curr Top Dev Biol (2008) 1.23
Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. J Comp Neurol (2011) 1.22
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med (2013) 1.20
Line up and listen: Planar cell polarity regulation in the mammalian inner ear. Semin Cell Dev Biol (2009) 1.18
The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci U S A (2010) 1.18
Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol (2017) 1.16
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J Cell Biol (2012) 1.16
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet (2010) 1.14
Tip links in hair cells: molecular composition and role in hearing loss. Curr Opin Otolaryngol Head Neck Surg (2009) 1.11
Kif3a regulates planar polarization of auditory hair cells through both ciliary and non-ciliary mechanisms. Development (2011) 1.10
Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransduction. Nat Commun (2011) 1.08
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. Hum Mol Genet (2009) 1.06
Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function. Dis Model Mech (2011) 1.06
Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. J Biol Chem (2009) 1.03
Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Trends Neurosci (2011) 1.02
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta (2014) 1.02
Regulation of cochlear convergent extension by the vertebrate planar cell polarity pathway is dependent on p120-catenin. Development (2012) 1.00
Targeting of the hair cell proteins cadherin 23, harmonin, myosin XVa, espin, and prestin in an epithelial cell model. J Neurosci (2010) 1.00
Role for a novel Usher protein complex in hair cell synaptic maturation. PLoS One (2012) 0.98
The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice. J Biol Chem (2010) 0.98
A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. Pharmacogenomics J (2010) 0.98
Stiffened lipid platforms at molecular force foci. Proc Natl Acad Sci U S A (2013) 0.97
Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia. PLoS One (2012) 0.96
PIST regulates the intracellular trafficking and plasma membrane expression of cadherin 23. BMC Cell Biol (2010) 0.94
Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol (2013) 0.91
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet (2012) 0.90
Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse. Brain Res (2010) 0.90
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. Dev Neurobiol (2010) 0.89
Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles. Bioarchitecture (2011) 0.88
Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice. Exp Anim (2013) 0.88
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. Am J Pathol (2011) 0.87
Using injectoporation to deliver genes to mechanosensory hair cells. Nat Protoc (2014) 0.86
Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. J Neurosci (2012) 0.85
Cadherins as targets for genetic diseases. Cold Spring Harb Perspect Biol (2010) 0.85
Structure and Regulation of the Movement of Human Myosin VIIA. J Biol Chem (2015) 0.85
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol (2016) 0.83
Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. Int J Exp Pathol (2010) 0.83
Reaction-diffusion model of hair-bundle morphogenesis. Proc Natl Acad Sci U S A (2014) 0.81
Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans. PLoS One (2009) 0.81
Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis. Dis Model Mech (2014) 0.81
Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly. J Cell Biol (2014) 0.79
Kinetic Adaptations of Myosins for Their Diverse Cellular Functions. Traffic (2016) 0.79
Genetics of auditory mechano-electrical transduction. Pflugers Arch (2014) 0.79
Auditory hair cell centrioles undergo confined Brownian motion throughout the developmental migration of the kinocilium. Biophys J (2013) 0.78
USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Mol Vis (2012) 0.78
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein. J Neurosci (2015) 0.78
Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction. Proc Natl Acad Sci U S A (2017) 0.78
Rethinking how hearing happens. Neuron (2009) 0.77
Differential effects of Cdh23(753A) on auditory and vestibular functional aging in C57BL/6J mice. Neurobiol Aging (2016) 0.77
Developmental regulation of planar cell polarity and hair-bundle morphogenesis in auditory hair cells: lessons from human and mouse genetics. Wiley Interdiscip Rev Dev Biol (2015) 0.76
Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex. Curr Biol (2016) 0.76
It takes two. Elife (2015) 0.75
Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. Hum Mol Genet (2015) 0.75
PDZD7-MYO7A complex identified in enriched stereocilia membranes. Elife (2016) 0.75
Cytoskeleton Molecular Motors: Structures and Their Functions in Neuron. Int J Biol Sci (2016) 0.75
Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3's Function. Sci Rep (2016) 0.75
Over-expression of myosin7A in cochlear hair cells of circling mice. Lab Anim Res (2017) 0.75
Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery. FEBS Lett (2017) 0.75
Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice. Behav Brain Res (2017) 0.75
Emerging Gene Therapies for Genetic Hearing Loss. J Assoc Res Otolaryngol (2017) 0.75
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. Proc Natl Acad Sci U S A (2017) 0.75
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet (2003) 4.44
Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat Genet (2007) 3.79
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell (2006) 3.71
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J (2002) 3.53
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet (2006) 3.16
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet (2003) 2.98
Protein quality control during aging involves recruitment of the macroautophagy pathway by BAG3. EMBO J (2009) 2.83
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol (2002) 2.72
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet (2005) 2.38
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37
Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet (2006) 2.30
An automatic valuation system in the human brain: evidence from functional neuroimaging. Neuron (2009) 2.20
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res (2006) 2.19
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet (2003) 2.17
Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet (2004) 2.16
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet (2007) 2.11
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci (2007) 2.05
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet (2004) 2.04
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
How does the eye breathe? Evidence for neuroglobin-mediated oxygen supply in the mammalian retina. J Biol Chem (2002) 1.85
Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev Biol (2005) 1.84
Translationally repressed mRNA transiently cycles through stress granules during stress. Mol Biol Cell (2008) 1.84
Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci (2005) 1.84
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet (2003) 1.80
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
CPEB interacts with an ovary-specific eIF4E and 4E-T in early Xenopus oocytes. J Biol Chem (2007) 1.79
How the genetics of deafness illuminates auditory physiology. Annu Rev Physiol (2011) 1.78
BAG3 mediates chaperone-based aggresome-targeting and selective autophagy of misfolded proteins. EMBO Rep (2011) 1.73
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells. J Neurosci (2010) 1.72
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Proc Natl Acad Sci U S A (2002) 1.65
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Recruitment of an area involved in eye movements during mental arithmetic. Science (2009) 1.61
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet (2005) 1.54
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet (2006) 1.51
Intraflagellar transport molecules in ciliary and nonciliary cells of the retina. J Cell Biol (2010) 1.50
Kallmann syndrome. Eur J Hum Genet (2008) 1.47
MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep (2002) 1.46
Calcium- and otoferlin-dependent exocytosis by immature outer hair cells. J Neurosci (2008) 1.46
Unravelling the ultrastructure of stress granules and associated P-bodies in human cells. J Cell Sci (2009) 1.46
Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis. Mol Biol Cell (2003) 1.41
Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis. Proc Natl Acad Sci U S A (2007) 1.41
Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites. J Cell Biol (2003) 1.40
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. Nature (2008) 1.39
Otoferlin is critical for a highly sensitive and linear calcium-dependent exocytosis at vestibular hair cell ribbon synapses. J Neurosci (2009) 1.37
Role of p54 RNA helicase activity and its C-terminal domain in translational repression, P-body localization and assembly. Mol Biol Cell (2009) 1.36
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium. Hum Mol Genet (2010) 1.32
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet (2008) 1.31
Multi-subject dictionary learning to segment an atlas of brain spontaneous activity. Inf Process Med Imaging (2011) 1.30
Protein networks and complexes in photoreceptor cilia. Subcell Biochem (2007) 1.30
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. PLoS Genet (2012) 1.30
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells. Pflugers Arch (2009) 1.30
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A (2011) 1.30
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Hum Mol Genet (2008) 1.30
Mouse models for human hereditary deafness. Curr Top Dev Biol (2008) 1.28
Methicillin-resistant Staphylococcus aureus in Saarland, Germany: a statewide admission prevalence screening study. PLoS One (2013) 1.25
Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis (2005) 1.25