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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 | 万古霉素最低抑菌浓度对甲氧西林敏感金黄色葡萄球菌心内膜炎预后的影响显示文摘金黄色葡萄球菌(金葡菌)引起的心内膜炎病死率高。万古霉素最低抑菌浓度(MIC )能影响耐甲氧西林金葡菌所致血流感染的结果,最近的数据显示,其对甲氧西林敏感金葡菌也有类似作用。本文目的是评价万古霉素M IC对氯唑西林治疗的左心金葡菌感染性心内膜炎疗效的影响。 | Cervera C Casaeda X de la Maria CG 范亚新 张菁 | 2015 | 中国感染与化疗杂志2015，15，3： | 4 |
| 3 | New horizons for uncommon mutations in non-small cell lung cancer: BRAF, KRAS, RET, MET, NTRK, HER2显示文摘The 2004 discovery of EGFR mutations,followed by ALK rearrangements,ushered in a targeted therapy era for advanced non-small cell lung cancer(NSCLC).Tyrosine kinase inhibitors targeting gene alterations have substantially improved survival and quality of life for patients with NSCLC.In the last decade,rearrangements of the ROS1 oncogene have been incorporated into healthcare practice that are applicable to another small subgroup of patients who benefit from similar targeted strategies.Recent genome studies of lung adenocarcinoma have identified other possible therapeutic targets,including RET,NTRK fusions,c-MET alterations,and activating mutations in KRAS,BRAF,and HER2,all with frequencies greater than 1%.Lung cancers harbouring these genome changes can potentially be treated with agents approved for other indications or under clinical development.This review updates the therapeutic arsenal that especially targets those genes. | Maria Eugenia Olmedo Raquel Cervera Luis Cabezon-Gutierrez Yolanda Lage Elena Corral de la Fuente Ana Gomez Rueda1,Xabier Mielgo-Rubio Juan Carlos Trujillo Felipe Counago | 2022 | World Journal of Clinical Oncology2022，13，4： | 3 |
| 4 | Cross-species transferability and mapping of genomic and cDNA SSRs in pines显示文摘 | D. Chagné P. Chaumeil A. Ramboer C. Collada A. Guevara M. T. Cervera G. G. Vendramin V. Garcia J-M Frigerio C. Echt T. Richardson C. Plomion | 2004 | Theoretical and Applied Genetics2004，，6： | 2 |
| 5 | Clusters of Clinical and immunologyic features in systemic lupus erythematosus:analysis of 600 patients from a single center显示文摘 | FONT J CERVERA R RAMOS-CASALS M | 2004 | Semin Arthritis Rheum2004，33，4： | 1 |
| 6 | Modeling material failure in concrete structures under cyelie aetions显示文摘 | Faria R Oliver J Cervera M | 2004 | Journal of Structural Engineering2004，130，12： | 1 |
| 7 | A gene expression signature identi- fies two prognostic subgroups of basal basal cancer显示文摘 | Sabatier R Finetti P Cervera N | 2011 | Brest Cancer Res Treat2011，126，2： | 1 |
| 8 | Prognostic signigi-cance of uric acid serum concentration in patients with acute ischemic stroke显示文摘 | Chamorro A Obach V Cervera A | 2002 | Stroke2002，33，4： | 1 |
| 9 | Sesquiterpene lactones from Iranian Artemisia species 显示文摘 | MARCO J A SANZ - CERVERA J F MANGLANO E | 1993 | Phytochemistry1993，34，6： | 1 |
| 10 | Catastrophic antiphospholipid syndrome显示文摘 | Cervera R Asherton RA | 2006 | Patbophysiol Haemost Thromb2006，35，12： | 1 |
| 11 | Opportunistic pulmonary infections in solid organ transplant recipients 显示文摘 | Hoyo I Sanelemente G Cervera C | 2012 | Transplant Proc2012，44，9： | 1 |
| 12 | Early events in Agrobacterium-mediated genetic transformation of citrus explants显示文摘 | Pe:a L P6rez R M Cervera M et ol | 2004 | Ann Bot2004，94，1： | 1 |
| 13 | Invasive pulmonary aspergillosis in solid organ and bone marrow transplant recipients显示文摘 | Trullas JC Cervera C Benito N | 2005 | Transplant Proc2005，37，9： | 1 |
| 14 | Infection-related mortality in a large cohort of renal transplant recipients显示文摘 | Linares L Cofdn F Cervera C | 2007 | Transplant Proc2007，39，7： | 1 |
| 15 | Prognostic Significance of Uric Acid Serum Concentration in Patients With Acute Ischemic Stroke显示文摘 | ángel Chamorro Victor Obach álvaro Cervera Marian Revilla Ramón Deulofeu John H. Aponte | 2002 | Stroke: Journal of the American Heart Association2002，，： | 1 |
| 16 | Metal speciation in solid matrices显示文摘 | ARAVINDA K D CHAKRABORTY R CERVERA M L | 1995 | Talanta1995，42，： | 1 |
| 17 | Multi-residue determination of 130 multiclass pesticides in fruits and vegetables by gas chromatography coupled to triple quadrupole tandem mass spectrometry显示文摘 | CERVERA M I MEDINA C PORTOLES T | 2010 | Analytical and Bioanalytical Chemistry2010，397，7： | 1 |
| 18 | Evaluation of meta-bolic detoxifying enzyme activities and insecticide resistance in Frankliniella occidentalis显示文摘 | Maym6 A C Cervera A Saabia R | | 0，，09： | 1 |
| 19 | Obsessive-- compulsive disorder in childhood and adolescende: a clinical study显示文摘 | TORO J CERVERA M OSEJO E | 1992 | J Child Psychol Psychiatr1992，33，6： | 1 |
| 20 | Numerical prediction of temperature and density distributions in selective laser sintering processes显示文摘 | Bugeda G Cervera M Lombera G | 1999 | Rapid Prototyping Journal1999，5，1： | 1 |
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