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Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration
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نویسنده
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yang z. ,tong z. ,chen y. ,zeng j. ,lu f. ,sun x. ,zhao c. ,wang k. ,davey l. ,chen h. ,london n. ,muramatsu d. ,salasar f. ,carmona r. ,kasuga d. ,wang x. ,bedell m. ,dixie m. ,zhao p. ,yang r. ,gibbs d. ,liu x. ,li y. ,li c. ,li y. ,campochiaro b. ,constantine r. ,zack d.j. ,campochiaro p. ,fu y. ,li d.y. ,katsanis n. ,zhang k.
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منبع
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plos genetics - 2010 - دوره : 6 - شماره : 2
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چکیده
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A common haplotype on 10q26 influences the risk of age-related macular degeneration (amd) and encompasses two genes,loc387715 and htra1. recent data have suggested that loss of loc387715,mediated by an insertion/deletion (in/ del) that destabilizes its message,is causally related with the disorder. here we show that loss of loc387715 is insufficient to explain amd susceptibility,since a nonsense mutation (r38x) in this gene that leads to loss of its message resides in a protective haplotype. at the same time,the common disease haplotype tagged by the in/del and rs11200638 has an effect on the transcriptional upregulation of the adjacent gene,htra1. these data implicate increased htra1 expression in the pathogenesis of amd and highlight the importance of exploring multiple functional consequences of alleles in haplotypes that confer susceptibility to complex traits. © 2010 yang et al.
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آدرس
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center for human molecular biology and genetics,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu,sichuan,china,institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca,united states,department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca,united states,department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca,united states,department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, center for human molecular biology and genetics,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu,sichuan, China, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca,united states,department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca,united states,department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca, United States, institute of genetic medicine,johns hopkins university,baltimore,md, United States, department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, program in human molecular biology and genetics,eccles institute of human genetics,university of utah school of medicine,salt lake city,ut, United States, wilmer eye institute,johns hopkins university,baltimore,md, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca, United States, department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, departmet of ophthalmology,xin hua hospital,shanghai jiao tong university,shanghai, China, laboratory of analytical microbiology,institute of microbiology and epidemiology,beijing, China, department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, center for human molecular biology and genetics,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu,sichuan, China, center for human molecular biology and genetics,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu,sichuan, China, center for human molecular biology and genetics,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu,sichuan, China, center for human molecular biology and genetics,sichuan academy of medical sciences,sichuan provincial people's hospital,chengdu,sichuan, China, wilmer eye institute,johns hopkins university,baltimore,md, United States, department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, wilmer eye institute,johns hopkins university,baltimore,md, United States, wilmer eye institute,johns hopkins university,baltimore,md, United States, department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut, United States, program in human molecular biology and genetics,eccles institute of human genetics,university of utah school of medicine,salt lake city,ut, United States, institute of genetic medicine,johns hopkins university,baltimore,md,united states,wilmer eye institute,johns hopkins university,baltimore,md,united states,department of molecular biology and genetics,johns hopkins university,baltimore,md, United States, institute for genomic medicine and shiley eye center,university of california san diego,san diego,ca,united states,department of ophthalmology and visual sciences,moran eye center,university of utah school of medicine,salt lake city,ut,united states,veteran's administration,san diego,ca,united states,department of ophthalmology and ophthalmic laboratories,west china hospital,sichuan, China
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Authors
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