Published in Proc Natl Acad Sci U S A on June 03, 2009
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
Review series: The cell biology of hearing. J Cell Biol (2010) 2.29
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell (2010) 1.94
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70
The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice. J Neurosci (2010) 1.54
Whole animal knockout of smooth muscle alpha-actin does not alter excisional wound healing or the fibroblast-to-myofibroblast transition. Wound Repair Regen (2012) 1.47
β-Actin specifically controls cell growth, migration, and the G-actin pool. Mol Biol Cell (2011) 1.46
The actin gene family: function follows isoform. Cytoskeleton (Hoboken) (2010) 1.39
β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance. PLoS Genet (2010) 1.30
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet (2010) 1.18
Roles of the espin actin-bundling proteins in the morphogenesis and stabilization of hair cell stereocilia revealed in CBA/CaJ congenic jerker mice. PLoS Genet (2011) 1.17
Ion-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoforms. J Biol Chem (2010) 1.15
A novel Atoh1 "self-terminating" mouse model reveals the necessity of proper Atoh1 level and duration for hair cell differentiation and viability. PLoS One (2012) 1.14
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Hum Mol Genet (2009) 1.13
Delayed embryonic development and impaired cell growth and survival in Actg1 null mice. Cytoskeleton (Hoboken) (2010) 1.11
Integrating the biophysical and molecular mechanisms of auditory hair cell mechanotransduction. Nat Commun (2011) 1.08
Cytoplasmic gamma-actin and tropomodulin isoforms link to the sarcoplasmic reticulum in skeletal muscle fibers. J Cell Biol (2011) 1.06
Physiology, structure, and susceptibility to injury of skeletal muscle in mice lacking keratin 19-based and desmin-based intermediate filaments. Am J Physiol Cell Physiol (2011) 1.02
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. Eur J Hum Genet (2013) 0.99
Progressive hearing loss and gradual deterioration of sensory hair bundles in the ears of mice lacking the actin-binding protein Eps8L2. Proc Natl Acad Sci U S A (2013) 0.99
β-Actin and fascin-2 cooperate to maintain stereocilia length. J Neurosci (2013) 0.99
Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ. J Neurosci (2012) 0.97
Cells lacking β-actin are genetically reprogrammed and maintain conditional migratory capacity. Mol Cell Proteomics (2012) 0.95
Actin in hair cells and hearing loss. Hear Res (2011) 0.95
Nonredundant roles of cytoplasmic β- and γ-actin isoforms in regulation of epithelial apical junctions. Mol Biol Cell (2012) 0.94
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. BMC Genomics (2013) 0.93
Genetics of hearing and deafness. Anat Rec (Hoboken) (2012) 0.91
The Stereociliary Paracrystal Is a Dynamic Cytoskeletal Scaffold In Vivo. Cell Rep (2015) 0.89
Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice. Hum Mol Genet (2014) 0.88
XIRP2, an actin-binding protein essential for inner ear hair-cell stereocilia. Cell Rep (2015) 0.87
Live-cell imaging of actin dynamics reveals mechanisms of stereocilia length regulation in the inner ear. Nat Commun (2015) 0.87
Effect of overexpression of β- and γ-actin isoforms on actin cytoskeleton organization and migration of human colon cancer cells. Histochem Cell Biol (2014) 0.85
A corticosteroid-responsive transcription factor, promyelocytic leukemia zinc finger protein, mediates protection of the cochlea from acoustic trauma. J Neurosci (2011) 0.84
The cytoskeleton and neurite initiation. Bioarchitecture (2014) 0.83
Distinct functional interactions between actin isoforms and nonsarcomeric myosins. PLoS One (2013) 0.83
Altered white adipose tissue protein profile in C57BL/6J mice displaying delipidative, inflammatory, and browning characteristics after bitter melon seed oil treatment. PLoS One (2013) 0.82
Mutational ataxia resulting from abnormal vestibular acquisition and processing is partially compensated for. Behav Neurosci (2012) 0.81
Proteomic analysis of the organ of corti using nanoscale liquid chromatography coupled with tandem mass spectrometry. Int J Mol Sci (2012) 0.81
Smooth muscle α actin is specifically required for the maintenance of lactation. Dev Biol (2011) 0.81
Loss of γ-cytoplasmic actin triggers myofibroblast transition of human epithelial cells. Mol Biol Cell (2014) 0.81
Partial depletion of gamma-actin suppresses microtubule dynamics. Cytoskeleton (Hoboken) (2013) 0.80
WNT/β-Catenin Signaling Regulates Multiple Steps of Myogenesis by Regulating Step-Specific Targets. Mol Cell Biol (2015) 0.79
γ-Actin plays a key role in endothelial cell motility and neovessel maintenance. Vasc Cell (2015) 0.79
A membrane-type-1 matrix metalloproteinase (MT1-MMP)-discoidin domain receptor 1 axis regulates collagen-induced apoptosis in breast cancer cells. PLoS One (2015) 0.78
Activation of the cAMP Pathway Induces RACK1-Dependent Binding of β-Actin to BDNF Promoter. PLoS One (2016) 0.76
Ubiquitin ligase TRIM3 controls hippocampal plasticity and learning by regulating synaptic γ-actin levels. J Cell Biol (2015) 0.76
Evidence for changes in beta- and gamma-actin proportions during inner ear hair cell life. Cytoskeleton (Hoboken) (2015) 0.76
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
A novel actin mRNA splice variant regulates ACTG1 expression. PLoS Genet (2013) 0.76
Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons. J Cell Biol (2017) 0.75
Involvement of β- and γ-actin isoforms in actin cytoskeleton organization and migration abilities of bleb-forming human colon cancer cells. PLoS One (2017) 0.75
Mechanotransduction current is essential for stability of the transducing stereocilia in mammalian auditory hair cells. Elife (2017) 0.75
Annexin A5 is the Most Abundant Membrane-Associated Protein in Stereocilia but is Dispensable for Hair-Bundle Development and Function. Sci Rep (2016) 0.75
Simultaneous quantification of actin monomer and filament dynamics with modelling assisted analysis of photoactivation. J Cell Sci (2016) 0.75
Identification of putative ortholog gene blocks involved in gestant and lactating mammary gland development: a rodent cross-species microarray transcriptomics approach. Int J Genomics (2013) 0.75
Relative importance of βcyto- and γcyto-actin in primary mouse embryonic fibroblasts. Mol Biol Cell (2017) 0.75
Fibroblast growth on micro- and nanopatterned surfaces prepared by a novel sol-gel phase separation method. J Mater Sci Mater Med (2012) 0.75
Proteomic Profiling of Liver and Plasma in Chronic Ethanol Feeding Model of Hepatic Alcohol Dehydrogenase-Deficient Deer Mice. Alcohol Clin Exp Res (2017) 0.75
Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier. Nature (2002) 5.54
Mechanism of actin filament turnover by severing and nucleation at different concentrations of ADF/cofilin. Mol Cell (2006) 4.88
The active cochlea. J Neurosci (1992) 4.37
The organization of actin filaments in the stereocilia of cochlear hair cells. J Cell Biol (1980) 3.64
An actin molecular treadmill and myosins maintain stereocilia functional architecture and self-renewal. J Cell Biol (2004) 3.35
Arginylation of beta-actin regulates actin cytoskeleton and cell motility. Science (2006) 3.05
Actin isoforms. Curr Opin Cell Biol (1993) 3.02
Actin filaments in sensory hairs of inner ear receptor cells. J Cell Biol (1977) 2.46
Espin cross-links cause the elongation of microvillus-type parallel actin bundles in vivo. J Cell Biol (2003) 2.31
Rapid renewal of auditory hair bundles. Nature (2002) 2.28
Actin in the inner ear: the remarkable structure of the stereocilium. Nature (1980) 1.99
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci (2006) 1.93
Immunolocalization of the gamma isoform of nonmuscle actin in cultured cells. J Cell Biol (1986) 1.89
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet (2003) 1.83
F-actin bundles in Drosophila bristles are assembled from modules composed of short filaments. J Cell Biol (1996) 1.64
A specific 1:1 G-actin:DNAase i complex formed by the action of DNAase I on F-actin. FEBS Lett (1975) 1.52
Actin filament turnover regulated by cross-linking accounts for the size, shape, location, and number of actin bundles in Drosophila bristles. Mol Biol Cell (2003) 1.46
Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy. Dev Cell (2006) 1.43
Polarized distribution of actin isoforms in gastric parietal cells. Mol Biol Cell (1995) 1.41
Sorting of actin isoforms in chicken auditory hair cells. J Cell Sci (1997) 1.33
The dimensions and composition of stereociliary rootlets in mammalian cochlear hair cells: comparison between high- and low-frequency cells and evidence for a connection to the lateral membrane. J Neurosci (2008) 1.30
Tracking down the different forms of nuclear actin. Trends Cell Biol (2006) 1.29
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J Med Genet (2003) 1.24
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet (2006) 1.20
Differential distribution of beta- and gamma-actin in guinea-pig cochlear sensory and supporting cells. Hear Res (2005) 1.11
Long continuous actin bundles in Drosophila bristles are constructed by overlapping short filaments. J Cell Biol (2003) 1.04
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Eur J Hum Genet (2006) 1.01
Functional anatomy of auditory brainstem nuclei: application to the anatomical basis of brainstem auditory evoked potentials. Auris Nasus Larynx (2001) 1.00
A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Genomics (2000) 0.96
Expression of actin isoforms in the guinea pig organ of Corti: muscle isoforms are not detected. Hear Res (1994) 0.89
3-D analysis of F-actin in stereocilia of cochlear hair cells after loud noise exposure. Hear Res (1993) 0.85
Calpain-mediated proteolysis of talin regulates adhesion dynamics. Nat Cell Biol (2004) 4.29
Resolution of inflammation by retrograde chemotaxis of neutrophils in transgenic zebrafish. J Leukoc Biol (2006) 3.21
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol (2005) 3.15
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet (2002) 3.10
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
Multi-isotope imaging mass spectrometry reveals slow protein turnover in hair-cell stereocilia. Nature (2012) 2.52
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci (2006) 2.41
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet (2003) 2.36
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet (2002) 2.31
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet (2003) 2.14
Nanoscale live-cell imaging using hopping probe ion conductance microscopy. Nat Methods (2009) 2.12
A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet (2007) 2.11
Genetic insights into the morphogenesis of inner ear hair cells. Nat Rev Genet (2004) 2.11
Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet (2006) 2.05
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci U S A (2003) 2.04
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing. Cell (2010) 1.94
The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci (2006) 1.93
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol (2005) 1.82
Calpain 2 and PTP1B function in a novel pathway with Src to regulate invadopodia dynamics and breast cancer cell invasion. J Cell Biol (2008) 1.79
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Molecular remodeling of tip links underlies mechanosensory regeneration in auditory hair cells. PLoS Biol (2013) 1.77
Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. Hum Mol Genet (2004) 1.73
Cytoplasmic gamma-actin contributes to a compensatory remodeling response in dystrophin-deficient muscle. Proc Natl Acad Sci U S A (2006) 1.68
Inhibition of beta-catenin signaling causes defects in postnatal cartilage development. J Cell Sci (2008) 1.67
Deafness and stria vascularis defects in S1P2 receptor-null mice. J Biol Chem (2007) 1.66
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet (2002) 1.62
Imaging proteins in membranes of living cells by high-resolution scanning ion conductance microscopy. Angew Chem Int Ed Engl (2006) 1.58
Enhanced laminin binding by alpha-dystroglycan after enzymatic deglycosylation. Biochem J (2005) 1.56
Cardioprotective effect of ocotillol, a derivate of pseudoginsenoside F11, on myocardial injury induced by isoproterenol in rats. Arzneimittelforschung (2007) 1.52
Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet (2003) 1.51
β-Actin specifically controls cell growth, migration, and the G-actin pool. Mol Biol Cell (2011) 1.46
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. Hum Mutat (2007) 1.44
Utrophin binds laterally along actin filaments and can couple costameric actin with sarcolemma when overexpressed in dystrophin-deficient muscle. Mol Biol Cell (2002) 1.44
Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy. Dev Cell (2006) 1.43
Site mapping and characterization of O-glycan structures on alpha-dystroglycan isolated from rabbit skeletal muscle. J Biol Chem (2010) 1.43
The actin gene family: function follows isoform. Cytoskeleton (Hoboken) (2010) 1.39
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. N Engl J Med (2003) 1.38
Dystrophin is a microtubule-associated protein. J Cell Biol (2009) 1.38
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. Hum Mutat (2007) 1.37
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet (2002) 1.37
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet (2013) 1.37
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. Am J Hum Genet (2011) 1.37
Dystrophin and utrophin bind actin through distinct modes of contact. J Biol Chem (2006) 1.36
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Fast adaptation and Ca2+ sensitivity of the mechanotransducer require myosin-XVa in inner but not outer cochlear hair cells. J Neurosci (2009) 1.31
Functional substitution by TAT-utrophin in dystrophin-deficient mice. PLoS Med (2009) 1.30
β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance. PLoS Genet (2010) 1.30
Dynamic assembly of surface structures in living cells. Proc Natl Acad Sci U S A (2003) 1.30
Contributions of the LG modules and furin processing to laminin-2 functions. J Biol Chem (2002) 1.28
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat (2008) 1.27
Crystal structure and cell surface anchorage sites of laminin alpha1LG4-5. J Biol Chem (2007) 1.27
Molecular dissection of the alpha-dystroglycan- and integrin-binding sites within the globular domain of human laminin-10. J Biol Chem (2003) 1.26
Twinfilin 2 regulates actin filament lengths in cochlear stereocilia. J Neurosci (2009) 1.26
Biology of the striated muscle dystrophin-glycoprotein complex. Int Rev Cytol (2008) 1.25
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet (2008) 1.24
Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery. Hear Res (2003) 1.24
PLK1 phosphorylates mitotic centromere-associated kinesin and promotes its depolymerase activity. J Biol Chem (2010) 1.24
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. Am J Hum Genet (2009) 1.21
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. Hum Mol Genet (2002) 1.20
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet (2010) 1.18
Auditory mechanotransduction in the absence of functional myosin-XVa. J Physiol (2006) 1.17
An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. Nat Commun (2013) 1.17
Ion-dependent polymerization differences between mammalian beta- and gamma-nonmuscle actin isoforms. J Biol Chem (2010) 1.15
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet (2009) 1.15
Signatures from tissue-specific MPSS libraries identify transcripts preferentially expressed in the mouse inner ear. Genomics (2006) 1.13
The utrophin actin-binding domain binds F-actin in two different modes: implications for the spectrin superfamily of proteins. J Cell Biol (2002) 1.12
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. J Hum Genet (2009) 1.12
Delayed embryonic development and impaired cell growth and survival in Actg1 null mice. Cytoskeleton (Hoboken) (2010) 1.11
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet (2006) 1.11
Expression of Dp260 in muscle tethers the actin cytoskeleton to the dystrophin-glycoprotein complex and partially prevents dystrophy. Hum Mol Genet (2002) 1.10
The transcription factors Grainyhead-like 2 and NK2-homeobox 1 form a regulatory loop that coordinates lung epithelial cell morphogenesis and differentiation. J Biol Chem (2012) 1.10
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness. Am J Hum Genet (2005) 1.10
Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology. Biochim Biophys Acta (2010) 1.09
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest (2012) 1.09
Tricellulin deficiency affects tight junction architecture and cochlear hair cells. J Clin Invest (2013) 1.09
Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci (2006) 1.08
Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition. J Clin Invest (2011) 1.07
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Hum Genet (2008) 1.07
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes. J Med Genet (2011) 1.07
Thyroid hormone receptors TRalpha1 and TRbeta differentially regulate gene expression of Kcnq4 and prestin during final differentiation of outer hair cells. J Cell Sci (2006) 1.06
Frequency- and level-dependent changes in auditory brainstem responses (ABRS) in developing mice. J Acoust Soc Am (2006) 1.05
Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation. Proc Natl Acad Sci U S A (2010) 1.04