Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy

Defective myosin VIIA gene responsible for Usher syndrome type IB

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A type VII myosin encoded by the mouse deafness gene shaker-1

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Retinitis pigmentosa. The Friedenwald Lecture.

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Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

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

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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

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Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

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Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

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Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

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The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

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Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

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Genetic Evidence for Selective Transport of Opsin and Arrestin by Kinesin-II in Mammalian Photoreceptors

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Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

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Usher syndrome: Definition and estimate of prevalence from two high-risk populations

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Clinical diagnosis of the Usher syndromes

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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

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Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II

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Mutations in cadherin 23 affect tip links in zebrafish sensory hair cells

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Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene

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The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

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Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

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Genetic Analysis of Vertebrate Sensory Hair Cell Mechanosensation: the Zebrafish Circler Mutants

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Myosin VIIa Participates in Opsin Transport through The Photoreceptor Cilium

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

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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Alagramam, K. N. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.16.1709 · Cited by 289 · see citing works

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

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Missense Mutation in the USH2A Gene: Association with Recessive Retinitis Pigmentosa without Hearing Loss

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Usher syndrome: molecular links of pathogenesis, proteins and pathways

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Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein.

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The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions

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A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

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The Very Large G-Protein-Coupled Receptor VLGR1: A Component of the Ankle Link Complex Required for the Normal Development of Auditory Hair Bundles

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Localization of two genes for usher syndrome type I to chromosome 11

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Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness

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Usher's syndrome—deafness and progressive blindness

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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

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Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

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Physical and Functional Interaction between Protocadherin 15 and Myosin VIIa in Mechanosensory Hair Cells

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Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11

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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

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Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

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Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

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Usher syndrome in the city of Birmingham---prevalence and clinical classification

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Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes

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Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene

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Usher's Syndrome

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Very Large G Protein-coupled Receptor-1, the Largest Known Cell Surface Protein, Is Highly Expressed in the Developing Central Nervous System

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A gene for usher syndrome type I (USH1A) maps to chromosome 14q

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Isolation of a Gene Encoding a Novel Member of the Nuclear Receptor Superfamily from the Critical Region of Usher Syndrome Type IIa at 1q41

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Duplicated genes with split functions: independent roles of protocadherin15 orthologues in zebrafish hearing and vision

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Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

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Abnormal Sperm and Photoreceptor Axonemes in Usher's Syndrome

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Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice

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Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10

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Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B

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A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21

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The role of Rab27a in the regulation of melanosome distribution within retinal pigment epithelial cells

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Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

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The Ankle-Link Antigen: an Epitope Sensitive to Calcium Chelation Associated with the Hair-Cell Surface and the Calycal Processes of Photoreceptors

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The ternary Rab27a-Myrip-Myosin VIIa complex regulates melanosome motility in the retinal pigment epithelium

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

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Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice

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Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

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Differential Distribution of Harmonin Isoforms and Their Possible Role in Usher-1 Protein Complexes in Mammalian Photoreceptor Cells

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Actin-based motor properties of native myosin VIIa

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Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.

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Chapter 34 Light and circadian regulation of retinomotor movement

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Transport to the photoreceptor outer segment by myosin VIIa and kinesin II

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Characterization of ATP release from cultures enriched in cholinergic amacrine-like neurons

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Analysis of Kinesin-2 Function in Photoreceptor Cells Using Synchronous Cre -loxP Knockout of Kif3a with RHO-Cre

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Characterization of the Motor Activity of Mammalian Myosin VIIA

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A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25

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A New Clinical Classification for Usher's Syndrome Based on a New Subtype of Usher's Syndrome Type I

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The ophthalmological course of Usher syndrome type III

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Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q

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Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration

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A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

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USH1A: Chronicle of a Slow Death

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WHIRLER MICE: A Recessive Behavior Mutation in Linkage Group VIII

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Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss

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Molecular complexes that direct rhodopsin transport to primary cilia

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Independent Analysis of the Flagellum Surface and Matrix Proteomes Provides Insight into Flagellum Signaling in Mammalian-infectious Trypanosoma brucei

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Non-Invasive Stem Cell Therapy in a Rat Model for Retinal Degeneration and Vascular Pathology

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Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

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Usher protein functions in hair cells and photoreceptors

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Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis

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Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors

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Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23

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Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment

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Chapter 8 Mouse Models for Human Hereditary Deafness

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The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65

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Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II

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Development and disease of the photoreceptor cilium

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Gene therapy for the treatment of X-linked retinitis pigmentosa

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Clarin-1, Encoded by the Usher Syndrome III Causative Gene, Forms a Membranous Microdomain

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Distinct functions for IFT140 and IFT20 in opsin transport

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Association of Whirlin with Ca v 1.3 (α 1D ) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

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The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

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CLRN1 Is Nonessential in the Mouse Retina but Is Required for Cochlear Hair Cell Development

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Structures of Usher Syndrome 1 Proteins and Their Complexes

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Development and characteristics of children with Usher syndrome and CHARGE syndrome

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Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

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Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes

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Function of MYO7A in the Human RPE and the Validity of Shaker1 Mice as a Model for Usher Syndrome 1B

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Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

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Diurnal rodents as pertinent animal models of human retinal physiology and pathology

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Moderate Light-Induced Degeneration of Rod Photoreceptors with Delayed Transducin Translocation in shaker1 Mice

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Children with Usher syndrome: mental and behavioral disorders

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Harmonin in the Murine Retina and the Retinal Phenotypes of Ush1c -Mutant Mice and Human USH1C

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Abnormal circling behavior in rat mutants and its relevance to model specific brain dysfunctions

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A Novel Allele of Myosin VIIa Reveals a Critical Function for the C-Terminal FERM Domain for Melanosome Transport in Retinal Pigment Epithelial Cells

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