• A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
• A novel allele of myosin VIIa reveals a critical function for the C-terminal FERM domain for melanosome transport in retinal pigment epithelial cells
• Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein
• Alteration of rod and cone function in children with Usher syndrome
• Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C
• Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A
• Assessment of different virus-mediated approaches for retinal gene therapy of Usher 1B
• Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon
• Cargo binding activates myosin VIIA motor function in cells
• Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration
• Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population
• Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report
• CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B
• Defective myosin VIIA gene responsible for Usher syndrome type 1B
• Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations
• Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A
• Dual-AAV vector-mediated expression of <em>MYO7A</em> improves vestibular function in a mouse model of Usher syndrome 1B
• Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression
• Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B
• Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors
• EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat
• Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B
• Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
• Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B
• From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)
• Gene therapy strategies for Usher syndrome type 1B
• Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant
• Genetic causes of hearing loss
• Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
• Homology modeling and global computational mutagenesis of human myosin VIIa
• Human myosin VIIa is a very slow processive motor protein on various cellular actin structures
• Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia
• Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells
• Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
• Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics
• Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B
• Identifying and Overcoming Challenges in Developing Effective Treatments for Usher 1B: A Workshop Report
• Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function
• Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B
• Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers
• Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice
• Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
• Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
• Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
• Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database
• Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
• myosin 7aa(-/-) mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses
• Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
• Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy
• Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family
• Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
• Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
• Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss
• Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients
• Optimization of Capillary-Based Western Blotting for MYO7A
• Origin of vestibular dysfunction in Usher syndrome type 1B
• Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations
• Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation
• Phenotypes in defined genotypes including siblings with Usher syndrome
• Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease
• Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness
• Retinal disease course in Usher syndrome 1B due to MYO7A mutations
• Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells
• Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes
• Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene
• Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells
• Spectrum of <em>MYO7A</em> Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations
• Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice
• Structure and Regulation of the Movement of Human Myosin VIIA
• The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
• The many different cellular functions of MYO7A in the retina
• The shaker-1 mouse myosin VIIa deafness mutation results in a severely reduced rate of the ATP hydrolysis step
• The tail binds to the head-neck domain, inhibiting ATPase activity of myosin VIIA
• Three-Dimensional Structure of Inner Ear Hair Cell Ribbon Synapses in a Zebrafish Model of Usher Syndrome Type 1B
• Unconventional myosins and the genetics of hearing loss
• Unravelling the genetics of deafness
• Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation
• Visual impairment in Finnish Usher syndrome type III