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Copper toxicosis gene MURRl is not changed in Wilson disease patients with normal blood ceruloplasmin levels

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World Journal of Gastroenterology 2006年第14期12卷 2239-2242页

作者： Karl Heinz Weiss Uta Merle mark schaefer Peter Ferenci Joachim Fullekrug Wolfgang Stremmel Department of Gastroenterology University of Heidelberg Germany Department of Gastroenterology and Hepatology Medical University of Vienna Austria

AIM： To analyze our Wilson disease patient cohort （n = 106） for alterations in the gene coding for MURR1. METHODS： Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study （n = 14）. Patients with two known disease-causing mutations in the ATPTB gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction. RESULTS： Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of Wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed. CONCLUSION： The MURRI gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels.

关键词： Wilson Disease ATPTB MURR1 COMMD1

Apolipoprotein B100 is required for hepatitis C infectivity and Mipomersen inhibits hepatitis C

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World Journal of Gastroenterology 2016年第45期22卷 9954-9965页

作者： Esperance AK schaefer James Meixiong Christina mark Amy Deik Daniel L Motola Dahlene Fusco Andrew Yang Cynthia Brisac Shadi Salloum Wenyu Lin Clary B Clish Lee F Peng Raymond T Chung Gastrointestinal Unit Massachusetts General Hospital Bossston MA 02114 United States Department of Medicine Harvard Medical School Bossston MA 02114 United States both of the Broad Institute of Harvard and M.I.T. Cambridge MA 02115 United States Temple University Health System Cambridge MA 02142 United States

AIM To characterize the role of apolipoprotein B100(apoB 100) in hepatitis C viral(HCV) infection. METHODS In this study, we utilize a gene editing tool, transcription activator-like effector nucleases(TALENs), to generate human hepatoma cells with a stable genetic deletion of APOB to assess of apoB in HCV. Using infectious cell culture-competent HCV, viral pseudoparticles, replicon models, and lipidomic analysis we determined the contribution of apoB to each step of the viral lifecycle. We further studied the effect of mipomersen, an FDAapproved antisense inhibitor of apoB 100, on HCV using in vitro cell-culture competent HCV and determined itsimpact on viral infectivity with the TCID50 method. RESULTS We found that apo B100 is indispensable for HCV infection. Using the JFH-1 fully infectious cell-culture competent virus in Huh 7 hepatoma cells with TALENmediated gene deletion of apoB(APOB KO), we found a significant reduction in HCV RNA and protein levels following infection. Pseudoparticle and replicon models demonstrated that apo B did not play a role in HCV entry or replication. However, the virus produced by APOB KO cells had significantly diminished infectivity as measured by the TCID-50 method compared to wildtype virus. Lipidomic analysis demonstrated that these virions have a fundamentally altered lipidome, with complete depletion of cholesterol esters. We further demonstrate that inhibition of apoB using mipomersen, an FDA-approved anti-sense oligonucleotide, results in a potent anti-HCV effect and significantly reduces the infectivity of the virus. CONCLUSION Apo B is required for the generation of fully infectious HCV virions, and inhibition of apo B with mipomersen blocks HCV. Targeting lipid metabolic pathways to impair viral infectivity represents a novel host targeted strategy to inhibit HCV.

关键词： Apolipoprotein Lipid Hepatitis C virus Gene silencing Viral replication

Key genes of the interleukin 6 signaling pathway are not associated with coronary artery disease in a large European population

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Open Journal of Genetics 2013年第1期3卷 67-78页

作者： mark Luedde Arne S.schaefer Natalie Scheller Corinna Doege Hans-Joerg Hippe Michael Nothnagel Nils Haake Norbert Frey Stefan Schreiber Nour Eddine El-Mokhtari Department of Internal Medicine III:Cardiology and Angiology University of KielKielGermany Institute for Clinical Molecular Biology University of KielKielGermany Department of Pediatric Neurology University of KielKielGermany Institute of Medical Informatics and Statistics University of KielKielGermany Department of Cardiovascular Surgery University of KielKielGermany Department of Medicine Christian-Albrechts-Universitat KielKielGermany Imland Klinikum Rendsburg Christian-Albrechts-Universitat KielKielGermany

Background: Recent studies indicate a strong functional relevance of the canonical inflammatory interleukin 6 signaling pathway in coronary artery disease (CAD). A genetic association of this signaling pathway with CAD has not been shown yet. We aimed to assess novel single nucleotide polymorphisms (SNPs) from genes of the Interleukin 6 signaling pathway. Results: To identify novel SNPs that are relevant for CAD, we employed a large-scale population-based case-control association study of 2199 cases and 1715 controls and assessed 73 SNPs from 12 genes out of the IL-6 signaling pathway. Results were adjusted to the CAD-related risk factors diabetes, hypertension, Body Mass Index, smoking and sex by logistic regression analysis. In a primary explorative study, we identified 5 SNPs that were significantly associated with CAD (MAPK1_rs6928, MAPK1_rs9340, MAPK1_ rs11913721, MAPK14_rs7757672, JAK1_rs310236). After adjustment to CAD-risk factors, MAPK1_ rs6928 showed the strongest association with CAD (P 0.0217, Odds Ratio 1.36, Confidence Interval 1.05 - 1.77). To reproduce this result, we performed a replication study employing independent patient and control panels. In this study we could not approve the association of rs6928 with CAD. Conclusion: In conclusion, we did not detect significant associations of SNPs from the IL-6 signaling pathway with CAD. Our investigation demonstrates the importance of independent replication studies to verify results from candidate-gene association studies in the quest to discover the underlying pathomechanism of CAD.

关键词： Coronary Artery Disease Genetics Single Nucleotide Polymorphism Interleukin 6

肾功能和疾病规范命名:改善全球肾脏病预后(KDIGO)会议共识

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临床儿科杂志 2022年第8期40卷 627-633页

作者：王忍高春林夏正坤张沛(译) 东部战区总医院儿科江苏南京210002

为规范描述肾功能和疾病的专业术语,2019年6月改善全球肾脏病预后组织(KDIGO)召开共识会议,对肾脏功能和疾病、肾衰竭、急性肾脏病和急性肾损伤、慢性肾脏病及肾脏评估共5个部分的内容制定了相应的术语表,并就以下建议达成共识。①对于... 详细信息

为规范描述肾功能和疾病的专业术语,2019年6月改善全球肾脏病预后组织(KDIGO)召开共识会议,对肾脏功能和疾病、肾衰竭、急性肾脏病和急性肾损伤、慢性肾脏病及肾脏评估共5个部分的内容制定了相应的术语表,并就以下建议达成共识。①对于肾脏功能和疾病的一般描述,使用术语“kidney”,而不使用“renal”或前缀“nephro-”;②使用“肾衰竭(kidney failure)”并适当描述是否存在相应症状、体征和治疗,而不是“终末期肾脏疾病(end-stage kidney disease)”;③使用KDIGO对急性肾脏病(AKD)和急性肾损伤(AKI)进行定义和分类;④使用KDIGO对慢性肾脏病(CKD)进行定义和分类;⑤使用特定的肾脏检测指标,例如蛋白尿或肾小球滤过率(GFR)降低,而不是肾功能“异常(abnormal)”或“降低(reduced)”来描述肾脏结构和功能的改变。文章简要总结会议的主要讨论。

关键词：肾脏功能肾脏疾病术语

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急性卒中影像学研究路径图Ⅱ

国际脑血管病杂志 2014年第2期22卷 81-92页

作者： Max Wintermark Gregory W. Albers Joseph P. Broderick Andrew M. Demchuk Jochen B. Fiebach Jens Fiehler James C. Grotta Gary Houser Tudor G. Jovin Kennedy R. Lees Michael H. Lev David S. Liebeskind Marie Luby Keith W. Muir mark W. Parsons Rudiger von Kummer Joanna M. Wardlaw Ona Wu Albert J. Yoo Andrei V. Alexandrov Jeffry R. Alger Richard I. Aviv Roland Bammer Jean-Claude Baron Fernando Calamante Bruce C.V. Campbell Trevor C. Carpenter Sφren Christensen William A. Copen Colin P. Derdeyn E. Clarke Haley Jr Pooja Khatri Kohsuke Kudo Maarten G. Lansberg Lawrence L. Latour Ting-Yim Lee Richard Leigh Weili Lin Patrick Lyden Grant Mair Bijoy IC Menon Patrik Michel Robert Mikulik Raul G. Nogueira Left φstergaard Salvador Pedraza Christian H. Riedel Howard A. Rowley Pina C. Sanelli Makoto Sasaki Jeffrey L. Saver Pamela W. schaefer Peter D. Schellinger Georgios Tsivgoulis Lawrence R. Wechsler Philip M. White Greg Zaharchuk Osama O. Zaidat Stephen M. Davis Geoffrey A. Donnan Anthony J. Furlan Werner Hacke Dong-Wha Kang Chelsea Kidw ell Vincent N. Thijs Gotz Thomalla Steven J. Warach 严晓铭刘牧张晶晶柯开富不详南通大学附属医院神经内科 226001

卒中影像学研究组（StrokeImagingResearchGroup，STIR）、美国神经放射学学会和美国神经放射学学会基金会在过去1年多的时间时举办了一系列的工作会议，最后一次会议于2013年3月9日至10日在华盛顿召开的卒中治疗专业学术圆桌会议（Stro... 详细信息

卒中影像学研究组（StrokeImagingResearchGroup，STIR）、美国神经放射学学会和美国神经放射学学会基金会在过去1年多的时间时举办了一系列的工作会议，最后一次会议于2013年3月9日至10日在华盛顿召开的卒中治疗专业学术圆桌会议（Stroke Treatment Academy Industry Roundtable，STAIR）期间举行。

关键词：急性卒中影像学神经放射学路径会议基金会学会美国