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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness 总被引:12,自引:0,他引:12
Bech-Hansen NT Naylor MJ Maybaum TA Sparkes RL Koop B Birch DG Bergen AA Prinsen CF Polomeno RC Gal A Drack AV Musarella MA Jacobson SG Young RS Weleber RG 《Nature genetics》2000,26(3):319-323
During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination. Within the retina, cells that respond to light increment and light decrement are separated into ON- and OFF-pathways. Hereditary diseases are known to disturb these retinal pathways, causing either progressive degeneration or stationary deficits. Congenital stationary night blindness (CSNB) is a group of stable retinal disorders that are characterized by abnormal night vision. Genetic subtypes of CSNB have been defined and different disease actions have been postulated. The molecular bases have been elucidated in several subtypes, providing a better understanding of the disease mechanisms and developmental retinal neurobiology. Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 4) in which affected males have night blindness, some photopic vision loss and a defect of the ON-pathway. We have found 14 different mutations, including 1 founder mutation in 7 families from the United States, in a novel candidate gene, NYX. NYX, which encodes a glycosylphosphatidyl (GPI)-anchored protein called nyctalopin, is a new and unique member of the small leucine-rich proteoglycan (SLRP) family. The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. 相似文献
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The paper summarizes results of a mail survey of the use of formal forecasting techniques in British manufacturing companies. It appraises the state of awareness of particular techniques and the extent to which they are used in various functional applications. The extent to which the forecasts generated by the techniques influence company action is assessed; and the reasons for the non-use of particular techniques examined. The paper concludes that although an increasing number of companies appreciate the importance of forecasting, the methods used are predominantly naïve and few companies are taking steps to improve the situation through using alternative techniques or through computerizing established techniques. 相似文献
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D. T. Arakaki Iris Veomett R. S. Sparkes 《Cellular and molecular life sciences : CMLS》1970,26(4):425-426
Zusammenfassung Früher wurde bereits ein Chromosomenpolymorphismus in nicht verwandtenPeromyscus maniculatus, wahrscheinlich durch perizentrische Inversion bedingt, gezeigt. Es wird nun nachgewiesen, dass dieser Polymorphismus auch unter Geschwistern vorkommt. 相似文献
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