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《Chinese Journal of Clinical Medicine》 2017-03
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The role of abnormal expression of the PDE6b gene in retinitis pigmentosa

YUAN Li;LIU Yan;LIU Te;Department of Ophthalmology,Shanghai General Hospital,School of Medicine,Shanghai Jiao Tong University;Shanghai Geriatric Institute of Traditional Chinese Medicine;  
Phosphodiesterases(PDEs)are a large family of proteins divided into 11 subfamilies,namely PDE1-PDE11.PDE6 is a PDEs subfamily,the PDE protein encoded by the PDE6 gene,which hydrolyses cGMP,the specific receptor of rod outer segment membrane disc ion channels and also an important molecule in the vertebrate photoreceptor cells that converts light signals into electrical signals.The deletion of pde6 bgene results in a nonfunctional PDE and an accumulation of cGMP in the photoreceptor cells,causing the increase of cationic photoreceptor cells,cell poisoning and cell death.The photoreceptor cells in the retina constantly deteriorate,indirectly affecting the retina converting the light signals into electrical signals.The abnormal expression of pde6 b gene is one of the most important causes of autosomal recessive retinitis pigmentosa.Therefore,the abnormal expression of pde6 bgene in animal models and familial inheritance has gradually become the focus of research in recent years.This paper focuses on the structure,function,and mutation types of pde6 bgene,and their influence on the corresponding structure and function of retinitis pigmentosa.
【Fund】: 国家自然科学基金面上项目(81371068)~~
【CateGory Index】: R774.13
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【Citations】
Chinese Journal Full-text Database 1 Hits
1 Lu-Lu Cheng;Ru-Yi Han;Fa-Yu Yang;Xin-Ping Yu;Jin-Ling Xu;Qing-Jie Min;Jie Tian;Xiang-Lian Ge;Si-Si Zheng;Ye-Wen Lin;Yi-Han Zheng;Jia Qu;Feng Gu;School of Ophthalmology and Optometry, Eye Hospital,Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science,Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry;Institute of Genomic Medicine, Wenzhou Medical University;;Novel mutations in PDE6B causing human retinitis pigmentosa[J];International Journal of Ophthalmology;2016-08
【Co-citations】
Chinese Journal Full-text Database 1 Hits
1 YUAN Li;LIU Yan;LIU Te;Department of Ophthalmology,Shanghai General Hospital,School of Medicine,Shanghai Jiao Tong University;Shanghai Geriatric Institute of Traditional Chinese Medicine;;The role of abnormal expression of the PDE6b gene in retinitis pigmentosa[J];中国临床医学;2017-03
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