Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A
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چکیده
منابع مشابه
Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A.
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 a clinical trial based on one of these approaches has begun. This review evaluates the different ...
متن کاملDisease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
PURPOSE To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. METHODS Patients with MYO7A-USH1B (n=17; ages 5-61) were studied with optical coherence tomography. Retinal laminae across horizontal and vertical meridians were measured. Colocalized visual sensitivity was measured with automated perimetry to enable compa...
متن کاملNovel mutations in MYO7A and USH2A in Usher syndrome.
PURPOSE Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndr...
متن کاملRetinal disease course in Usher syndrome 1B due to MYO7A mutations.
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All M...
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this study investigates the cohesive devices used in the textbook of english for the students of psychology. the research questions and hypotheses in the present study are based on what frequency and distribution of grammatical and lexical cohesive devices are. then, to answer the questions all grammatical and lexical cohesive devices in reading comprehension passages from 6 units of 21units th...
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ژورنال
عنوان ژورنال: Cold Spring Harbor Perspectives in Medicine
سال: 2015
ISSN: 2157-1422
DOI: 10.1101/cshperspect.a017319