retinitispigmentosa相关论文
先证者为8岁男性患儿，双眼视力进行性下降3年，视网膜电图表现为独特的闪光视网膜电图波形，视杆和视锥系统反应下降；但暗适应状态高刺激......
目的:分析1例视网膜色素变性(retinitis pigmentosa, RP)患者的基因变异，明确其可能的遗传学病因。方法:应用全外显子测序技术对先......
PURPOSE To investigate volumetric alterations in visual pathways of patients with retinitis pigmentosa using voxel based......
Molecular Diagnosis of Retinitis Pigmentosa by Whole Exome Sequencing in a Chinese Cohort of 98 Smal
Purpose Retinitis pigmentosa(RP)is probably the most common inherited retinal disease.Because RP is highly heterogeneous......
Construction of eukaryotic expression plasmid about human retina-derived NT-3 and its expression, se
The human neurotrophin-3(NT-3) DNA was obtained by RT-PCR from retinal tissue.Expression plasmid of NT-3, p EGFP-N1-NT-3......
Inhibition of ionotropic glutamate receptors protects retinal ganglion cell function during photorec
Retinitis pigmentosa (RP) is a progressive retinal degenerative disease that causes deterioration of rod and cone photor......
Suppression of microglial activation attenuates photoreceptor degeneration and preserves visual func
Microglia are important immune cells in the central nervous system (CNS).In neurodegenerative diseases,microglia respond......
Objective The elongation factor Tu GTP binding domain containing 2(Eftud2)encodes a GTPase which is a component of the s......
Purposes Photoreceptor cells are specialized cells with elongated outer segment cilia.Proper protein sorting and traffic......
Whole exome sequencing identifies mutations of multiple genes in a Chinese cohort of 95 sporadic pro
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Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X
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神经营养因子是能够促进神经元存活、生长、分化及维持其功能的多效性肽类因子的总称,可被作为有效的神经保护剂用于治疗多种神经......
Objective: To evaluate the incidence and patt of rhodopsin (RHO) mutations in Chinese patients with retinitis pigmentosa......
Purpose: To investigate the expression status of p53, Fas and bcl-2 in the development of retinal degeneration in C3H, r......
视网膜色素变性(RP)是一组以视网膜色素上皮(RPE)和感光细胞的功能障碍或丧失为主要特征的致盲眼病,有很大的临床和遗传异质性.碘......
背景RP为遗传性致盲眼病，其遗传方式和临床表型呈高度异质性，对患者的突变基因进行筛查和诊断对于进一步的基因治疗研究有重要意义。......
视网膜色素变性(RP)是一种可致盲的遗传性眼病,目前尚无有效的治疗措施.尽管近年来基因治疗、干细胞疗法、光遗传学、视网膜假体等......
Fascin-2基因属于Fascins家族，其蛋白质编码产物是一组结构独特、进化保守的肌动蛋白交联蛋白，位于细胞膜皱襞、微棘突起及应力纤维，......
Generation of nonhuman primate retinitis pigmentosa model by in situ knockout of RHO in rhesus macaq
Retinitis pigmentosa (RP) is a form of inherited retinal degenerative diseases that ultimately involves the macula,which......
目的 观察米诺环索对视网膜色素变性(RP)的rd小鼠[C3H/HeN(Pde6brd-/rd-)]RP过程的影响.方法 40只新生rd小鼠随机分为10组,5组为实......
目的 用连锁分析法对1个中国人显性视网膜色素变性家系进行已知位点的筛查,寻找其致病基因.方法 随机选取已知致病基因上下约5cM(J......
目的：构建遗传性视网膜色素变性３型（ＲＰ３）基因位点的单拷贝探针库。方法：对包含ＲＰ３位点的酵母人工染色体（ＹＡＣ）ＨＯ５１２进行亚克隆，用人总ＤＮＡ杂交法去除重复顺序克......
