منابع مشابه
The usher syndromes.
Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal recessive disorder comprising hearing and visual ...
متن کاملGenetic heterogeneity of Usher syndrome.
Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understa...
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Elucidating the critical epigenetics events involved in differentiation and reprogramming of cells to primordial germ cells (PGCs) is among the interesting issues in stem cell research. Here, I will talk about critical transcription factors and global hypomethylation in development of germ cells. Evidence strongly suggests that the earliest PGCs emerging in the E7.25 mouse embryo epiblast have...
متن کاملGenetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 fami...
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In this paper, Landscape Allocation using Genetic Algorithm (LAGA), a spatial multi-objective land use optimization software is introduced. The software helps in searching for optimal land use when multiple objectives such as suitability, area, cohesion and edge density indices are simultaneously involved. LAGA is a flexible and easy to use genetic algorithm-based software for optimizing the sp...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2019
ISSN: 1755-375X,1755-3768
DOI: 10.1111/j.1755-3768.2019.8199