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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 | Emerging artificial intelligence applications in liver magnetic resonance imaging显示文摘Chronic liver diseases(CLDs)are becoming increasingly more prevalent in modern society.The use of imaging techniques for early detection,such as magnetic resonance imaging(MRI),is crucial in reducing the impact of these diseases on healthcare systems.Artificial intelligence(AI)algorithms have been shown over the past decade to excel at image-based analysis tasks such as detection and segmentation.When applied to liver MRI,they have the potential to improve clinical decision making,and increase throughput by automating analyses.With Liver diseases becoming more prevalent in society,the need to implement these techniques to utilize liver MRI to its full potential,is paramount.In this review,we report on the current methods and applications of AI methods in liver MRI,with a focus on machine learning and deep learning methods.We assess four main themes of segmentation,classification,image synthesis and artefact detection,and their respective potential in liver MRI and the wider clinic.We provide a brief explanation of some of the algorithms used and explore the current challenges affecting the field.Though there are many hurdles to overcome in implementing AI methods in the clinic,we conclude that AI methods have the potential to positively aid healthcare professionals for years to come. | Charles E Hill Luca Biasiolli Matthew D Robson Vicente Grau Michael Pavlides | 2021 | World Journal of Gastroenterology2021，27，40： | 2 |
| 3 | Robustness of measles immunity in parturient women in Gipuzkoa,Basque Country,Spain,in the post-vaccination era显示文摘 | Cilla G Serrano-Bengoechea E Vicente D et a1 | 2007 | Eurosurveillance2007，12，9： | 1 |
| 4 | Astroglial and cognitive effects of chronic cerebral hypoperfusion in the rat 显示文摘 | Vicente E Degerone D Bohn L | 2009 | Brain Res2009，1251，： | 1 |
| 5 | International inequality in energy intensity levels and the role of production composition and energy efficiency: an analysis of OECD countries 显示文摘 | Juan A D Vicent A Emilio P | 2010 | Ecological Economics2010，69，12： | 1 |
| 6 | Towards a physical map of the Listeria chromosome:the pulse field eletrophoresis approach显示文摘 | Vicente B Perez D Amils Z | 1989 | Acta Microbiol1989，26，： | 1 |
| 7 | Astroglial and cognitive effects of chronic cerebral hypoperfusion in the rat显示文摘 | Vicente E Degerone D Bohn L | 2009 | Brain Res2009，1251，： | 1 |
| 8 | Plant protection and growth stimulation by microorganisms: biotechnological applica- tions of Bacilli in agriculture显示文摘 | P6rez-Garcia A Romero D de Vicente A | 2011 | Current Opinion in Biotech- nology2011，22，2： | 1 |
| 9 | Astroglial and cognitive effects of chronic cerebral hypoperfusion in the rat 显示文摘 | Vicente E Degerone D Bohn L | 2009 | Brain Res2009，1251，： | 1 |
| 10 | Molecular ecology and pathogenic potential of Fonsecaea species显示文摘 | De Hoog GS Attili-Angelis D Vicente VA | | 0，，5： | 1 |
| 11 | Knockout of insulin and IGF-1 receptors on vascular endothelial cells pro- tects against retinal neovaseulariztion 显示文摘 | KONDO T VICENT D SUZUMA K | 2003 | J Clin Invest2003，111，12： | 1 |
| 12 | QTL analysis of transgressive segregation in an interspecific tomato cross显示文摘 | de Vicente M C Tanksley S D | 1993 | Genetics1993，134，： | 1 |
| 13 | Robustness of measles immunity in parturient women in Gipuzkoa, Basque Country, Spain, in the post-vaccination era 显示文摘 | Cilia G Serrano-Bengoechea E Vicente D | 2007 | Eurosurveillance2007，12，9： | 1 |
| 14 | Localization and photodynamic efficacy of two cationic porphyrins varying in charge distributions 显示文摘 | Kessel D Luguya R Vicente MG | 2003 | Photochem Photobiol2003，78，5： | 1 |
| 15 | The iturin and fengycin families of lipopeptides are key factors in antagonism of Bacillus subtilis toward Podosphaera fusca显示文摘 | Romero D de Vicente A Rakotoaly RH | 2007 | Molecular Plant-Microbe Interactions2007，20，4： | 1 |
| 16 | Astroglial and cognitive effects of chronic cerebral hypoperfusion in the rat显示文摘 | Vicente E Degerone D Bohn L | 2009 | Brain Res2009，1251，： | 1 |
| 17 | Evaluation ofbiological control agents for managing cucurbit pow-dery mildew on greenhouse-grown melon显示文摘 | Romero D Vicente A Zeriouh H | 2007 | Plant pa-thology2007，56，6： | 1 |
| 18 | Modeling and vibration mode analysis of a ball screw drive 显示文摘 | Vicente D Hecker R Villegas F | 2010 | The International Journal of Advanced Manufacturing Technology2010，，： | 1 |
| 19 | The CART (cocaine- and amphetamineregulated transcript) system in appetite and drug addiction显示文摘 | Vicentic A Jones D C | 2007 | J Pharmacol Exp Ther2007，320，： | 1 |
| 20 | Maternal separation alters serotonergic transporter densities and serotonergic 1A receptors in rat brain 显示文摘 | Vicentic A Francis D Moffett M | 2006 | Neuroscience2006，140，1： | 1 |
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