usher syndromes/atrophy

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Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.

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Identifikohuni Regjistrohu

UNASSIGNED Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A

The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome.

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Identifikohuni Regjistrohu

Usher syndrome is a group of autosomal recessive diseases characterized by congenital deafness and retinitis pigmentosa. In a mouse model for Usher syndrome, KMush/ush, discovered in our laboratory, we measured the phenotypes, characterized the architecture and morphology of the retina, and

Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.

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Identifikohuni Regjistrohu

Usher syndrome is a deaf-blindness disorder. One of the subtypes, Usher 1B, is caused by loss of function of the gene encoding the unconventional myosin, MYO7A. A variety of different viral-based delivery approaches have been tested for retinal gene therapy to prevent the blindness of Usher 1B, and

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.

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Identifikohuni Regjistrohu

Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. USH is classified into three types, based on the hearing and vestibular symptoms observed in patients. Sixteen loci have been reported to be involved in the occurrence of

[THE USHER SYNDROME AND TAPETO-RETINAL PSEUDO-DEGENERATION WITH AUDITORY DEFICITS].

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Identifikohuni Regjistrohu

Gene therapy approaches for prevention of retinal degeneration in Usher syndrome.

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Identifikohuni Regjistrohu

Kinetics of visual field loss in Usher syndrome Type II.

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Identifikohuni Regjistrohu

OBJECTIVE To characterize the kinetics of visual field decay in Usher syndrome type II. METHODS The area of 137 Goldmann visual fields (GVFs) delimited with the I4e and V4e targets was measured in each eye of 19 patients with an established diagnosis of Usher syndrome type II, and the average

Neuroprotective effect of overexpression of thioredoxin on photoreceptor degeneration in Tubby mice.

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Identifikohuni Regjistrohu

The Tubby mouse is a phenotypic model for sensorineural deafness and retinal dystrophy including Usher syndrome type 1. Thioredoxin is a small 13kDa protein which, when ubiquitously expressed as a transgene in the mouse, provides protection against multiple disease states including light-induced and

Bronchial asthma in a patient with Usher syndrome: case report.

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Identifikohuni Regjistrohu

The Usher syndrome is a recessively inherited disorder characterized by the associated deficits of sensorineural hearing impairment and a progressive retinal degeneration called retinitis pigmentosa. A case of Usher syndrome is reported in a 22-year-old atopic patient with asthma. To our knowledge,

Usher syndrome in four Norwegian counties.

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Identifikohuni Regjistrohu

Among 89 probands selected for tapeto-retinal degeneration, 18 (20%) were given the diagnosis of Usher syndrome. Among the relatives of the probands another 10 cases of Usher syndrome were found. The distribution on type diagnoses was: Usher syndrome type I: 14 cases, type II: 10 cases and type III:

Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics.

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Identifikohuni Regjistrohu

The rat is the most extensively studied model organism and is broadly used in biomedical research. Current rat disease models are selected from existing strains and their number is thereby limited by the degree of naturally occurring variation or spontaneous mutations. We have used ENU mutagenesis

[Clinical phenotype and genotype analysis of the family with the Usher syndrome].

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Identifikohuni Regjistrohu

To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation.Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected

Usher syndrome type 1: early detection of electroretinographic changes.

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Identifikohuni Regjistrohu

BACKGROUND Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years. OBJECTIVE To describe electroretinographic changes

[Genetics of Usher syndrome].

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Identifikohuni Regjistrohu

Since the first gene (MYO7A) for Usher syndrome was identified 14 years ago, there has been substantial progress in the elucidation of the genetic basis of this disorder, revealing extensive genetic heterogeneity (with nine genes known to date). Most Usher genes have similar functions, localize to

Longterm visual prognosis in Usher syndrome types 1 and 2.

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Identifikohuni Regjistrohu

OBJECTIVE To estimate the age at diagnosis of retinitis pigmentosa and to determine visual acuity deterioration, visual field impairment and the frequency of cataracts in Usher syndrome types 1 and 2. METHODS We carried out a retrospective study of 328 affected subjects with Usher syndrome types 1

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