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| 1 | The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle显示文摘Carbamoyl phosphate synthetase 1(CPS1) deficiency(CPS1D) is an inborn error of the urea cycle having autosomal(2q34) recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation. We analyzed the effects on CPS1 activity, kinetic parameters and enzyme stability of missense mutations reported in patients with CPS1 deficiency that map in the 20-k Da C-terminal domain of the enzyme. This domain turns on or off the enzyme depending on whether the essential allosteric activator of CPS1, N-acetylL-glutamate(NAG), is bound or is not bound to it. To carry out the present studies, we exploited a novel system that allows the expression in vitro and the purification of human CPS1, thus permitting site-directed mutagenesis. These studies have clarified disease causation by individual mutations, identifying functionally important residues, and revealing that a number of mutations decrease the affinity of the enzyme for NAG. Patients with NAG affinity-decreasing mutations might benefit from NAG site saturation therapy with N-carbamyl-Lglutamate(a registered drug, the analog of NAG). Our results, together with additional present and prior site-directed mutagenesis data for other residues mapping in this domain, suggest an NAG-triggered conformational change in the b4-a4 loop of the C-terminal domain of this enzyme. This change might be an early event in the NAG activation process. Molecular dynamics simulations that were restrained according to the observed effects of the mutations are consistent with this hypothesis, providing further backing for this structurally plausible signaling mechanism by which NAG could trigger urea cycle activation via CPS1. | Carmen Díez-Fernández José Gallego Johannes H?berle Javier Cervera Vicente Rubio | 2015 | Journal of Genetics and Genomics2015，42，5： | 7 |
| 2 | Immunosuppression for in vivo research: state-of-the-at protocols and experimental approaches显示文摘几乎,用非自体同源的房间,织物或机关移植的每试验性的治疗策略在临床的翻译前在小、大的动物模型被测试。因为这些策略在大多数情况中要求免疫力的抑制,抑制免疫力的协议是在移植实验的一个关键元素。然而,没有详细知识,标准抑制免疫力的协议经常在特别试验性的背景以内并且在选择模型种类关于他们的功效被使用。如此的协议的优化对到人的病人的试验性的结果的翻译恰当,因此,保证推进调查。这评论与种类特定的药 metabolization 和副作用的考虑关于抑制免疫力的药类以及他们的剂量和应用程序政体总结当前的知识。它也总结新奇 immunomodulatory 策略的当代的知识,例如间充质的干细胞或抗体的使用。因此,这评论被打算用作一个最先进的概要让研究人员精制应用试验性的免疫力的抑制和 immunomodulation 策略提高现出症状之前的潜的移植研究的预兆的价值。 | Rita Diehl Fabienne Ferrara Claudia Müller Antje Y Dreyer Damian D McLeod Stephan Fricke Johannes Boltze | 2017 | Cellular & Molecular Immunology2017，14，2： | 5 |
| 3 | 筛状神经上皮性肿瘤(CRINET):具有SMARCB1缺失分子特征的预后好的非横纹肌样肿瘤显示文摘非典型畸胎样/横纹肌样肿瘤(ATRT)是以横纹肌样形态及SMARCB1(INI1)表达缺失为特征的脑肿瘤。筛状神经上皮性肿瘤(CRINETs)为筛状生长模式伴有SMARCB1表达缺失的罕见非横纹肌样脑肿瘤。小的病例系列报道提示CRINETs可能具有相对良好的预后,然而长期预后还不清楚,且CRINET是一个独立的肿瘤还是ATRT的变异亚型仍不明确。 | Johann P D Hovestadt V Thomas C 蔡珊珊 王行富 | 2017 | 临床与实验病理学杂志2017，33，2： | 4 |
| 4 | A review on phase change materials integrated in building walls显示文摘 | Frédéric Kuznik Damien David Kevyn Johannes Jean-Jacques Roux | 2010 | Renewable and Sustainable Energy Reviews2010，，1： | 2 |
| 5 | 应用无标定激光诱导击穿光谱法分析钢铁工业中氧化物材料显示文摘激光诱导击穿光谱技术是一种具有吸引力的快速定量表征材料的方法,可用于工业过程的在线监控。本文报告了该技术在多元氧化物材料分析上应用。采用激光诱导击穿光谱技术分析钢工业生产的炉渣和混合氧化物试料,然后以无标定法测定其中氧化物的浓度,结果发现,对于本研究所涉及的材料,无标定激光诱导击穿光谱方法的测定浓度值与参考值一致,大部分样品和氧化物组分的绝对误差小于2%(质量分数),大范围改变测定参数时浓度值保持稳定。研究结果表明激光诱导击穿光谱技术作为钢铁工业中新型的分析测试技术具有很大潜力。 | PEDARNIG Johannes D HEITZ Johannes PRAHER Bernhard KOLMHOFER Philipp HUBER Norbert RSSLER Roman WOLFMEIR Hermann ARENHOLZ Enno | 2012 | 冶金分析2012，32，8： | 2 |
| 6 | Efficacy of SpyGlass^(TM)-directed biopsy compared to brush cytology in obtaining adequate tissue for diagnosis in patients with biliary strictures显示文摘AIM: To evaluate the diagnostic yield(inflammatory activity) and efficiency(size of the biopsy specimen) of SpyGlassTM-guided biopsy vs standard brush cytology in patients with and without primary sclerosing cholangitis(PSC).METHODS: At the University Medical Center Mainz, Germany, 35 consecutive patients with unclear biliarylesions(16 patients) or long-standing PSC(19 patients) were screened for the study. All patients underwent a physical examination, lab analyses, and abdominal ultrasound. Thirty-one patients with non-PSC strictures or with PSC were scheduled to undergo endoscopic retrograde cholangiography(ERC) and subsequent per-oral cholangioscopy(POC). Standard ERC was initially performed, and any lesions or strictures were localized. POC was performed later during the same session. The Boston Scientific SpyGlass SystemTM(Natick, MA, United States) was used for choledochoscopy. The biliary tree was visualized, and suspected lesions or strictures were biopsied, followed by brush cytology of the same area. The study endpoints(for both techniques) were the degree of inflammation, tissue specimen size, and the patient populations(PSC vs non-PSC). Inflammatory changes were divided into three categories: none, low activity, and high activity. The specimen quantity was rated as low, moderate, or sufficient.RESULTS: SpyGlassTM imaging and brush cytology with material retrieval were performed in 29 of 31(93.5%) patients(23 of the 29 patients were male). The median patient age was 45 years(min, 20 years; max, 76 years). Nineteen patients had known PSC, and 10 showed non-PSC strictures. No procedure-related complications were encountered. However, for both methods, tissues could only be retrieved from 29 pa-tients. In cases of inflammation of the biliary tract, the diagnostic yield of the SpyGlassTM-directed biopsies was greater than that using brush cytology. More tissue material was obtained for the biopsy method than for the brush cytology method(P = 0.021). The biopsies showed significantly more inflammatory characteristics and greater inflammatory activity compared to the cy-tological investigation(P = 0.014). The greater quantity of tissue samples proved useful for both PSC and non-PSC patients.CONCLUSION: SpyGlassTM imaging can be recom-mended for proper inflammatory diagnosis in PSC pa-tients. However, its value in diagnosing dysplasia wasnot addressed in this study and requires further investi-gation. | Johannes Wilhelm Rey Torsten Hansen Sebastian Dümcke Achim Tresch Katja Kramer Peter Robert Galle Martin Goetz Marcus Schuchmann Ralf Kiesslich Arthur Hoffman | 2014 | World Journal of Gastrointestinal Endoscopy2014，6，4： | 2 |
| 7 | A vital sugar code for ricin toxicity显示文摘 | Jasmin Taubenschmld Johannes Stadlmann Markus Jost Tove Irene Klok.k Cory D Rillahan Andreas Leibbrandt Karl Mechtler James C Paulson Julian Jude Johannes Zuber Kirsten Sandvig Ulrich Elling Thorsten Marquardt Christian Thiel Christian Koerner Josef M Penninger | 2017 | Cell Research2017，27，11： | 2 |
| 8 | Protein toxins: intracellular trafficking for largeted therapyCJI 显示文摘 | Johannes L Decaudin D | 2005 | Gene Ther2005，12，18： | 1 |
| 9 | Stroke-induced immundepression: experimental evidence and clinical relevance显示文摘 | Ulrich D Juliane K Johann S | 2007 | Stroke2007，38，2： | 1 |
| 10 | An object based traffic control strategy, a chaos theory approach with an object - oriented implementation 显示文摘 | Johanns R D | 1993 | Advanced Technologic1993，6，： | 1 |
| 11 | Problems with reconciling density functional theory calculations with experiment in ferropnictides 显示文摘 | Mazin I I Johannes M D Boeri L Koepernik K Singh D J | 2008 | Plays Rev B2008，78，08： | 1 |
| 12 | Phenotypic and molecular detection of CTX-M-lactamases produced by Escherichia coli and klebsiella spp显示文摘 | Johann D D Pitout Nancy D Hanson | 2004 | Clinical Microbiol2004，12，： | 1 |
| 13 | Recognition of apoptotic cells by macrophages activates the peroxisome proliferator-activated receptor-gamma and attenuates the oxidative burst显示文摘 | Johann AM yon Knethen A Lindemann D | | 0，，9： | 1 |
| 14 | Pasteurization of apple juice by using microwaves 显示文摘 | JUAN A C JOSE'E C JOHANNES D B | 2002 | Lebensmittel- Wissenschaft und-Technologie2002，35，5： | 1 |
| 15 | An object based traffic control strategy,a chaos theory approach with an object-oriented implementation显示文摘 | Johanns R D | 1993 | Advanced Technologies1993，，6： | 1 |
| 16 | Braun stroke-induced immunodepression: experimental evidence and clinical relevance显示文摘 | Ulrich D Juliane K Johann S | 2007 | Stroke2007，38，2： | 1 |
| 17 | Novel three-phase converters显示文摘 | Johann W Kolar Frank Schafmeister Simon D al | 2007 | IEEE Electronics2007，22，5： | 1 |
| 18 | Absorption of a mutagenic metabolite released from protein-bound residues of furazolidone显示文摘 | Laurentius A.P Hoogenboom Gerard D van Bruchem Kim Sonne Ilona C Enninga Johannes A van Rhijn Henri Heskamp Margot B.M Huveneers-Oorsprong Jan C.M van der Hoeven Harry A Kuiper | 2002 | Environmental Toxicology and Pharmacology2002，，3： | 1 |
| 19 | High-energy shock waves for the treatment of nonunions:an experiment on dogs显示文摘 | Johannes E Kaulesar Sukul D M Matura E | 1994 | Journal of Surgical Research1994，57，2： | 1 |
| 20 | 难治性类风湿关节炎的临床特点:一项国际问卷调查研究显示文摘目的尽管按照目前欧洲抗风湿联盟(EULAR)的推荐对类风湿关节炎(rheumatoid arthritis,RA)患者进行治疗,难治性RA患者的临床症状却仍然没有得到完全控制,目前EULAR指南主要关注的是RA的早期治疗和药物治疗。本研究的目的在于分析难治性RA患者的临床特点,以及在患者管理中需要探索然而现有EULAR指南并未涉及的问题。方法对多个国家的风湿科医生进行问卷调查,分析难治性RA的临床特点。问卷包括多选题以及开放性问题,从开放性问题的回答中发现需要进一步阐明的问题以及现有EULAR指南需要增加的内容。结果410名受访者完成了调查问卷,关于难治性RA的特点:50%受访者认为基于28个关节评估的疾病活动评分(disease activity score assessing 28 joints,DAS28)>3.2或存在疾病活动的征象;42%受访者认为疲劳是其特点;48%认为至少两种传统合成改变病情抗风湿药(DMARDs)以及使用至少两种生物制剂或靶向合成DMARDs治疗失败;89%认为糖皮质激素不能减量到5 mg/天或泼尼松不能减量到10 mg/天或同等剂量的其他激素。另外,现有EULAR指南中应增加合并症和关节外表现的干预以及多种药物联合治疗等重要内容。结论目前风湿科医生对难治性RA的定义有很大争议。难治性RA患者的很多重要问题目前EULAR指南中均没有涉及。 | Nadia MT Roodenrijs Maria J H de Hair Marlies C van der Goes Johannes WG Jacobs Paco MJ Welsing Désirée van der Heijde Daniel Aletaha Maxime Dougados Kimme L Hyrich Iain B McInnes Ulf Mueller-Ladner Ladislav Senolt Zoltan Szekanecz Jacob Mvan Laar Nagy Gyorgy 黄艳荣(译) 张卓莉(审校) | 2019 | 英国医学杂志中文版2019，22，2： | 1 |
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