Published in Hum Genet on December 15, 2006
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The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development. Cell Motil Cytoskeleton (2007) 1.13
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Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest Ophthalmol Vis Sci (2011) 0.97
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USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. J Hum Genet (2012) 0.92
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J Med Genet (2009) 0.90
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms. Invest Ophthalmol Vis Sci (2012) 0.90
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis (2010) 0.90
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis (2011) 0.90
Deafness and retinal degeneration in a novel USH1C knock-in mouse model. Dev Neurobiol (2010) 0.89
Myosins in cell junctions. Bioarchitecture (2012) 0.89
Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene. JAMA Ophthalmol (2013) 0.87
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane. Mol Vis (2009) 0.86
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem (2014) 0.86
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dyschronic, a Drosophila homolog of a deaf-blindness gene, regulates circadian output and Slowpoke channels. PLoS Genet (2012) 0.84
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Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. Mol Vis (2013) 0.82
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. Hum Mol Genet (2015) 0.82
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. Mol Vis (2010) 0.82
Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. Biochemistry (2010) 0.81
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A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients. Hum Mol Genet (2015) 0.79
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Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur J Hum Genet (2015) 0.78
Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration. Exp Eye Res (2013) 0.78
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Sci Rep (2016) 0.77
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Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell Rep (2016) 0.77
A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats. PLoS One (2011) 0.77
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. PLoS One (2014) 0.76
Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish. Biol Open (2016) 0.76
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
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. Gene Ther (2017) 0.75
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. PLoS One (2016) 0.75
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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nat Genet (2000) 3.71
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Nat Cell Biol (2005) 3.15
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
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet (2000) 2.87
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
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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
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Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet (2003) 1.34
Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Hum Mol Genet (2004) 1.30
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USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Hum Mutat (2004) 1.13
DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet (2002) 1.01
Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat (2005) 0.98
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Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
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Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. Nature (2011) 2.64
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
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Systemic complement activation in age-related macular degeneration. PLoS One (2008) 2.18
Findings in fluorescein angiography and optical coherence tomography after intravitreal bevacizumab in type 2 idiopathic macular telangiectasia. Ophthalmology (2007) 2.03
High-resolution spectral domain-OCT imaging in geographic atrophy associated with age-related macular degeneration. Invest Ophthalmol Vis Sci (2008) 2.03
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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
Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol (2009) 1.92
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A (2009) 1.64
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
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Reversal of end-stage retinal degeneration and restoration of visual function by photoreceptor transplantation. Proc Natl Acad Sci U S A (2013) 1.58
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Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function. Mol Ther (2010) 1.46
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Clinical evaluation of simultaneous confocal scanning laser ophthalmoscopy imaging combined with high-resolution, spectral-domain optical coherence tomography. Acta Ophthalmol (2010) 1.44
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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat (2007) 1.38
Incidence of blindness and severe visual impairment in Germany: projections for 2030. Invest Ophthalmol Vis Sci (2011) 1.36
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet (2002) 1.36
Prevalence and causes of registered blindness in the largest federal state of Germany. Br J Ophthalmol (2011) 1.36
The role of the complement system in age-related macular degeneration. Dtsch Arztebl Int (2014) 1.34
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Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci (2009) 1.33
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
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Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D. Hum Mutat (2002) 1.25
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Reading performance is reduced by parafoveal scotomas in patients with macular telangiectasia type 2. Invest Ophthalmol Vis Sci (2008) 1.23
Long-term effectiveness of intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks in pseudoxanthoma elasticum. Retina (2011) 1.22
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Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet (2005) 1.19
Concordance of disease progression in bilateral geographic atrophy due to AMD. Invest Ophthalmol Vis Sci (2009) 1.17
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Multimodal imaging including spectral domain OCT and confocal near infrared reflectance for characterization of outer retinal pathology in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci (2009) 1.14
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa. Hum Mol Genet (2010) 1.13
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Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis (2011) 1.09
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat (2002) 1.08
Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa. Hum Mol Genet (2012) 1.07
Tracking progression with spectral-domain optical coherence tomography in geographic atrophy caused by age-related macular degeneration. Invest Ophthalmol Vis Sci (2010) 1.06
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Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. Hum Mutat (2002) 0.92
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