|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition, and immune response显示文摘Background:Desmoplastic small round cell tumor(DSRCT)is a rare,aggressive,and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1(EWSR1)-Wilm’s tumor suppressor(WT1)translocation.We used whole-exome sequencing to interrogate six consecutive pretreated DSRCTs whose gene expression was previously investigated.Methods:DNA libraries were prepared from formalin-fixed,paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500.Raw sequence data were aligned to the reference genome with Burrows-Wheeler Aligner algorithm.Somatic mutations and copy number alterations(CNAs)were identified using MuTect2 and EXCAVATOR2,respectively.Biological functions associated with altered genes were investigated through Ingenuity Pathway Analysis(IPA)software.Results:A total of 137 unique somatic mutations were identified:133 mutated genes were case-specific,and 2 were mutated in two cases but in different positions.Among the 135 mutated genes,27%were related to two biological categories:DNA damage-response(DDR)network that was also identified through IPA and mesenchymal-epithelial reverse transition(MErT)/epithelial-mesenchymal transition(EMT)already demonstrated to be relevant in DSRCT.The mutated genes in the DDR network were involved in various steps of transcription and particularly affected pre-mRNA.Half of these genes encoded RNA-binding proteins or DNA/RNA-binding proteins,which were recently rec-ognized as a new class of DDR players.CNAs in genes/gene families,involved in MErT/EMT and DDR,were recurrent across patients and mostly segregated in the MErT/EMT category.In addition,recurrent gains of regions in chromosome 1 involving many MErT/EMT gene families and loss of one arm or the entire chromosome 6 affecting relevant immune-regulatory genes were recorded.Conclusions:The emerging picture is an extreme inter-tumor heterogeneity,characterized by the concurrent deregulation of the DDR and MErT/EMT dynamic and plastic programs that could favour genomic instability and explain the refractory DSRCT profile. | Andrea Devecchi Loris De Cecco Matteo Dugo Donata Penso Gianpaolo Dagrada Silvia Brich Silvia Stacchiotti Marialuisa Sensi Silvana Canevari Silvana Pilotti | 2018 | Cancer Communications2018，38，1： | 2 |
| 2 | Cellular FLICE - inhibintory protein ( c - FLIP) signalling: A key regulator of receptor - mediated apoptosis in physiologic context and in cancer显示文摘 | Bagnoli M Canevari S Mezzanzanica D | 2010 | Int J Biochem & Cell Biol2010，42，2： | 1 |
| 3 | PE- Gylation of the antimicrobial peptide nisin A:problems and perspec- tives显示文摘 | GUIOTTO A POZZOBON M CANEVARI M | 2003 | Ⅱ Farrnaco2003，58，1： | 1 |
| 4 | Alzheimer ' s disease and cholesterol :the fat connection 显示文摘 | Canevari L Clark JB | 2007 | Neurochem Res2007，，32： | 1 |
| 5 | PEGylation of the antimicrobial peptide nisin A: problems and perspectives显示文摘 | GUIOTO A POZZOBON M CANEVARI M | 2003 | Farmaco2003，58，1： | 1 |
| 6 | Tumor initiating cells:development and critical characterization of a model derived from the A431 carcinoma cell line forming spheres in suspension显示文摘 | Bortolomai I Canevari S Facetti I | | 0，，06： | 1 |
| 7 | Tumor initiating cells : develop- ment and critical characterization of a model derivedfrom the A431 carci- noma cell line forming spheres in suspension显示文摘 | Bortolomai I Canevari S Facetti I | 2010 | Cell Cycle2010，9，6： | 1 |
| 8 | Single-Step Purification of Immunotoxins Containing a High Ionic Charge Ribosome Inactivating Protein Clavin by Carboxymethyl High-Performance Membrane Chromatography显示文摘 | Dosio F Arpicco S Canevari S | 1999 | Journal of Chromatography A1999，830，2： | 1 |
| 9 | βamyloid inhibits integrated mitochondrial respiration and key enzyme activities显示文摘 | Casley CS Canevari L Land JM | 2002 | J Neurochem2002，80，1： | 1 |
| 10 | Recent progress on CdTe/CdS thin film solar cells 显示文摘 | ROMEO N BOSIO A CANEVARI V | 2004 | Solar Energy2004，77，： | 1 |
| 11 | Efficient and chemoselective N-acylation of 10-amino-7-ethyl camptothecin with poly (ethylene glycol)显示文摘 | GUIOTTO A CANEVARI M ORSOLINI P | 2004 | Bioorg Med Chem Lett2004，14，7： | 1 |
| 12 | Changes in intracellular calcium and glutathione in astrocytes as the primary mechanism of amyloid neurotoxicity显示文摘 | Abramov AY Canevari L Duchen MR | | 0，，12： | 1 |
| 13 | Long-term petentiation and glutamate release in the dentate gyrus: links to spatial learning 显示文摘 | Richter-Levin G Canevari L Bliss TV | 1995 | Behav Brain Res1995，66，： | 1 |
| 14 | Beta-amyloid inhibits integrated mitochondrial respiration and key enzyme activities显示文摘 | Casley CS Canevari L Land JM | 2002 | J Neurochem2002，80，1： | 1 |
| 15 | Effect of postischaemic hypothermia on the mitochondrial damage induced by ischaemia and reperfusion in the gerbil显示文摘 | CANEVARI L CONSOLE A TENDI EA | 1999 | Brain Res1999，817，12： | 1 |
| 16 | A step further in understanding the biology of the folate receptor in ovarian carcinoma 显示文摘 | Bagnoli M Canevari S Figini M | 2003 | Gynecol Oneol2003，88，： | 1 |
| 17 | miRNA control of apoptotic programs: focus on ovarian cancer显示文摘 | MEZZANZANICA D CANEVARI S CECCO L D | 2011 | Expert Rev Mol Diagn2011，11，3： | 1 |
| 18 | Calcium signals induced by amyloid beta peptide and their consequences in neurons and astlocytes in culture显示文摘 | Abramov AY Canevari L Duchen MR | 2004 | Biochim Biophys Acta2004，1742，13： | 1 |
| 19 | Astrocyte-neurone communication following oxygen-glucose deprivation显示文摘 | Griffin S Clark JB Canevari L | 2005 | J Neurochem2005，95，4： | 1 |
| 20 | Alzheimer's disease and Cholesterol:The Fat Connection显示文摘 | Canevari L Clark JB | 2007 | Neurochem Res2007，32，45： | 1 |
您所在的机构暂未开通此部分的功能，请联系管理员