检索结果-南通市图书馆

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

Journal of Genetics and Genomics 2022年第7期49卷 654-665页

作者： Elisabetta Morini Dadi Gao Emily M.Logan Monica Salani Aram J.Krauson anil chekuri Yei-Tsung Chen Ashok Ragavendran Probir Chakravarty Serkan Erdin Alexei Stortchevoi Jesper Q.Svejstrup Michael E.Talkowski Susan A.Slaugenhaupt Center for Genomic Medicine Massachusetts General Hospital Research InstituteBostonMAUSA Department of Neurology Massachusetts General Hospital Research Institute and Harvard Medical SchoolBostonMAUSA Program in Medical and Population Genetics and Stanley Center for Psychiatric Research Broad Institute of Harvard and MITCambridgeMAUSA Department of Life Sciences and Institute of Genome Sciences National Yang Ming Chiao Tung UniversityTaiwanChina Bioinformatics and Biostatistics The Francis Crick InstituteLondonUK Mechanisms of Transcription Laboratory The Francis Crick InstituteLondonUK Department of Cellular and Molecular Medicine Panum InstituteUniversity of CopenhagenCopenhagenDenmark

Familial dysautonomia(FD), a hereditary sensory and autonomic neuropathy, is caused by a mutation in the Elongator complex protein 1(ELP1) gene that leads to a tissue-specific reduction of ELP1 protein. Our work to generate a phenotypic mouse model for FD headed to the discovery that homozygous deletion of the mouse Elp1 gene leads to embryonic lethality prior to mid-gestation. Given that FD is caused by a reduction, not loss, of ELP1, we generated two new mouse models by introducing different copy numbers of the human FD ELP1 transgene into the Elp1 knockout mouse(Elp1) and observed that human ELP1 expression rescues embryonic development in a dose-dependent manner. We then conducted a comprehensive transcriptome analysis in mouse embryos to identify genes and pathways whose expression correlates with the amount of ELP1. We found that ELP1 is essential for the expression of genes responsible for nervous system development. Further, gene length analysis of the differentially expressed genes showed that the loss of Elp1 mainly impacts the expression of long genes and that by gradually restoring Elongator, their expression is progressively rescued. Finally, through evaluation of co-expression modules, we identified gene sets with unique expression patterns that depended on ELP1 expression.

关键词： ELP1 Elongator Transcriptional elongation Familial dysautonomia Neurodevelopmental disease

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

One step synthesis and characterization of copper doped sulfated titania and its enhanced photocatalytic activity in visible light by degradation of methyl orange

引用

Chinese Journal of Chemical Engineering 2016年第4期24卷 475-483页

作者： Radha Devi chekuri Siva Rao Tirukkovalluri Department of Inorganic and Analytical Chemistry School of Chemistry Andhra University Visakhapatnam India

This paper reports on the synthesis of copper doped sulfated titania nano-crystalline powders with varying(2.0%–10.0%, by mass) by single step sol gel method. The synthesized photo catalyst has been characterized by employing various techniques like X-ray Diffraction(XRD), Ultraviolet–Visible Diffuse Reflection Spectroscopy(UV–Vis DRS), X-ray Photoelectron Spectroscopy(XPS), Scanning Electron Microscopy(SEM), Energy Dispersive Spectrometry(EDS), Fourier Transform Infrared Spectroscopic Studies(FT-IR), and Transmission Electron Microscopy(TEM). From the XRD and TEM results, all the samples were reported in anatase phase with reduction in particle size in the range of 7 to 12 nm. SEM indicated the change in morphology of the particles. The presence of copper in titania lattice was evidenced by XPS. From UV–Vis DRS and FT-IR studies indicated that prominent absorption shift is observed towards visible region(red shift), the entry of Cu2+into Ti O2 lattice as a substitutional dopant and SO42-ions were covalently bonded with Ti4 +on the surface of the copper doped titania *** photocatalytic activity studies were investigated by considering methyl orange(MO) as dye pollutant in the presence of the visible light. The effect of various parameters like effect of dosage of the catalyst, dopant concentration, p H of the solution, and concentration of the dye was studied in detail.

关键词：二氧化钛一步合成可见光区表面掺杂甲基橙光催化降解硫酸 X射线光电子能谱

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Re-re-treatment of hepatitis C virus: Eight patients who relapsed twice after direct-acting-antiviral drugs

引用

World Journal of Gastroenterology 2015年第43期21卷 12430-12438页

作者： Joshua Hartman Kian Bichoupan Neal Patel Sweta chekuri Alyson Harty Douglas Dieterich Ponni Perumalswami Andrea D Branch Department of Medicine Icahn School of Medicine at the Mount Sinai Medical Center Division of Liver Disease Icahn School of Medicine at the Mount Sinai Medical Center

AIM: To determine risk factors associated with hepatitis C virus(HCV) treatment failure after direct acting antivirals in patients with complex treatment ***: All HCV mono-infected patients who received treatment at our institution were *** was restricted to patients who previously failed treatment with boceprevir(BOC) or telaprevir(TVR) and started simeprevir(SMV) and sofosbuvir(SOF) ± ribavirin(RBV) between December 2013 and June 2014. Patients with human immunodeficiency virus(HIV)/HCV co-infection or patients who received a liver transplant in the past were excluded. Viral loads were recorded while on treatment and after treatment. Data collection continued until December,31 st 2014 when data analysis was initiated. Patients missing virologic outcomes data were not included in the analysis. Analysis of 35 patients who had virologic outcome data available resulted in eight patients who were viral load negative at the end of treatment with SMF/SOF but later relapsed. Data related to patient demographics,HCV infection,and treatment history was collected in order to identify risk factors shared among patients who failed treatment with SMF/***: Eight patients who were treated with the first generation HCV protease inhibitors BOC or TVR in combination with pegylated-interferon(PEG) and RBV who failed this triple therapy were subsequently retreated with an off-label all-oral regimen of SMV and SOF for 12 wk,with RBV in seven cases. Treatment was initiated before the Food and Drug Administration approved a 24-wk SMV/SOF regimen for patients with liver cirrhosis. All eight patients had an end of treatment response,but later relapsed. Eight(100%) patients were male. Mean age was 56(range,49-64). Eight(100%) patients had previously failed PEG/RBV dual therapy at least once in addition to prior failure with triple therapy. Total number of times treated ranged from 3-6(mean 3.8). Eight(100%) patients were male had liver cirrhosis as determi

关键词： Hepatitis C Protease inhibitor Relapse Simeprevir

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Real-world cure rates for hepatitis C virus treatments that include simeprevir and/or sofosbuvir are comparable to clinical trial results

引用

World Journal of Virology 2017年第4期6卷 59-72页

作者： Kian Bichoupan Neeta Tandon James F Crismale Joshua Hartman David Del Bello Neal Patel Sweta chekuri Alyson Harty Michel Ng Keith M Sigel Meena B Bansal Priya Grewal Charissa Y Chang Jennifer Leong Gene Y Im Lawrence U Liu Joseph A Odin Nancy Bach Scott L Friedman Thomas D Schiano Ponni V Perumalswami Douglas T Dieterich Andrea D Branch Division of Liver Diseases Icahn School of Medicine at Mount Sinai Janssen Scientific Affairs LLC Division of General Internal Medicine Icahn School of Medicine at Mount Sinai

AIM To assess the real-world effectiveness and cost of simeprevir(SMV), and/or sofosbuvir(SOF)-based therapy for chronic hepatitis C virus(HCV) *** The real-world performance of patients treated with SMV/SOF ± ribavirin(RBV), SOF/RBV, and SOF/RBV with pegylated-interferon(PEG) were analyzed in a consecutive series of 508 patients with chronic HCV infection treated at a single academic medical center. Patients with genotypes 1 through 4 were included. Rates of sustained virological response-the absence of a detectable serum HCV RNA 12 wk after the end of treatment [sustained virological response(SVR) 12]-were calculated on an intention-to-treat basis. Costs were calculated from the payer's perspective using Medicare/Medicaid fees and Redbook Wholesale Acquisition Costs. Patient-related factors associated with SVR12 were identified using multivariable logistic *** SVR 12 rates were as follows: 86%(95%CI: 80%-91%)among 178 patients on SMV/SOF ± RBV; 62%(95%CI: 55%-68%) among 234 patients on SOF/RBV; and 78%(95%CI: 68%-86%) among 96 patients on SOF/PEG/RBV. Mean costs-per-SVR 12 were $174442(standard deviation: ± $18588) for SMV/SOF ± RBV; $223003(± $77946) for SOF/RBV; and $126496(± $31052) for SOF/PEG/RBV. Among patients on SMV/SOF ± RBV, SVR12 was less likely in patients previously treated with a protease inhibitor [odds ratio(OR): 0.20, 95%CI: 0.06-0.56]. Higher bilirubin(OR: 0.47, 95%CI: 0.30-0.69) reduced the likelihood of SVR12 among patients on SOF/RBV, while FIB-4 score ≥ 3.25 reduced the likelihood of SVR 12(OR: 0.18, 95%CI: 0.05-0.59) among those on SOF/PEG/RBV. CONCLUSION SVR 12 rates for SMV and/or SOF-based regimens in a diverse real-world population are comparable to those in clinical trials. Treatment failure accounts for 27% of costs.

关键词： Cirrhosis Cost Sustained virological response Protease inhibitor Polymerase inhibitor

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：