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Author openurl 
  Title Lipidomics volume 1: methods and protocols Type Book Whole
  Year 2009 Publication Abbreviated Journal  
  Volume Issue Pages  
  Keywords  
  Abstract  
  Address  
  Corporate Author Thesis  
  Publisher Human Press, USA Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45563  
Permanent link to this record
 

 
Author openurl 
  Title Rat genomics methods and protocols Type Book Whole
  Year 2010 Publication Abbreviated Journal  
  Volume 1 Issue Pages  
  Keywords  
  Abstract Grown exponentially by the genomic revolution, the use of the rat as a model of choice for physiological studies continues in popularity and at a much greater depth of understanding. In Rat Genomics: Methods and Protocols, world-wide experts provide both practical information for researchers involved in genomic research in the rat along with a more contextual discussion about the usefulness of the rat in physiological or translational research in different organs and systems. The volume extensively covers topics including genome sequencing, quantitative trait loci mapping, and the identification of single nucleotide polymorphisms as well as the development of transgenic technologies such as nuclear cloning, lentiviral-mediated transgenesis, gene knock-down using RNA interference, gene knock-out by mutagenesis, and zinc finger nucleases plus exciting advances in the obtention of rat embryonic cell lines. As a volume in the highly successful Methods in Molecular Biology series, this work provides the kind of detailed description and implementation advice that is crucial for getting optimal results. Comprehensive and up-to-date, Rat Genomics: Methods and Protocols thoroughly covers the current techniques used in labs around the world and overviews the applications of the data obtained, making it certain to be useful to the scientific community as a key source of references and methods.  
  Address  
  Corporate Author Thesis  
  Publisher Humana Press Place of Publication New York, N.Y. Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45562  
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Author isbn  openurl
  Title Mechanobiology of the Endothelium Type Book Whole
  Year 2015 Publication Abbreviated Journal  
  Volume Issue Pages  
  Keywords  
  Abstract The endothelium is an excellent example of where biology meets physics and engineering. It must convert mechanical forces into chemical signals to maintain homeostasis. It also controls the immune response, drug delivery through the vasculature, and cancer metastasis. Basic understanding of these processes is starting to emerge and the knowledge gained from research is now being used in applications from drug delivery to imaging modalities. This book reviews current knowledge in mechanobiology of the endothelium and its implications for the development of theranostic devices.  
  Address  
  Corporate Author Thesis  
  Publisher CRC Press Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN 9781482207255 Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45932  
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Author Aalto, K.; Autio, A.; Kiss, E.A.; Elima, K.; Nymalm, Y.; Veres, T.Z.; Marttila-Ichihara, F.; Elovaara, H.; Saanijoki, T.; Crocker, P.R.; Maksimow, M.; Bligt, E.; Salminen, T.A.; Salmi, M.; Roivainen, A.; Jalkanen, S. url  openurl
  Title Siglec-9 is a novel leukocyte ligand for vascular adhesion protein-1 and can be used in PET imaging of inflammation and cancer Type Journal Article
  Year 2011 Publication Abbreviated Journal Blood  
  Volume 118 Issue 13 Pages 3725-3733  
  Keywords  
  Abstract Leukocyte migration to sites of inflammation is regulated by several endothelial adhesion molecules. Vascular adhesion protein-1 (VAP-1) is unique among the homing-associated molecules as it is both an enzyme that oxidizes primary amines and an adhesin. Although granulocytes can bind to endothelium via a VAP-1-dependent manner, the counter-receptor(s) on this leukocyte population is(are) not known. Here we used a phage display approach and identified Siglec-9 as a candidate ligand on granulocytes. The binding between Siglec-9 and VAP-1 was confirmed by in vitro and ex vivo adhesion assays. The interaction sites between VAP-1 and Siglec-9 were identified by molecular modeling and confirmed by further binding assays with mutated proteins. Although the binding takes place in the enzymatic groove of VAP-1, it is only partially dependent on the enzymatic activity of VAP-1. In positron emission tomography, the ⁶⁸Gallium-labeled peptide of Siglec-9 specifically detected VAP-1 in vasculature at sites of inflammation and cancer. Thus, the peptide binding to the enzymatic groove of VAP-1 can be used for imaging conditions, such as inflammation and cancer.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0006-4971 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45367  
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Author Aartsma-Rus, A. openurl 
  Title Exon Skipping Type Book Whole
  Year 2012 Publication Abbreviated Journal  
  Volume Issue Pages 440 pp  
  Keywords Medical; Medical  
  Abstract “Next generation” sequencing techniques allow for more detailed analysis of exons and introns in multiple genes at the same time. This will reveal many mutations that potentially lead to exon skipping. To functionally test these a lot can be achieved with a limited set of protocols, while for the intentional induction of exon skipping different tools and target genes are involved and the translational path from in vitro splicing to in vivo tests in animal models requiring a more extensive set of protocols. Exon Skipping: Methods and Protocols provides scientist with a comprehensive guide to many of the methods and techniques used for exon skipping, such as methods on how to discriminate “real polymorphisms” from mutations that affect splicing. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Authoritative and practical Exon Skipping: Methods and Protocols seeks to aid scientists in the continuing study of exon skipping.  
  Address  
  Corporate Author Thesis  
  Publisher Humana PressInc Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45365  
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Author Abarrategui-Garrido, C.; Martínez-Barricarte, R.; López-Trascasa, M.; de Córdoba, S.R.; Sánchez-Corral, P. url  openurl
  Title Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome Type Journal Article
  Year 2009 Publication Abbreviated Journal Blood  
  Volume 114 Issue 19 Pages 4261-4271  
  Keywords  
  Abstract The factor H-related protein family (CFHR) is a group of minor plasma proteins genetically and structurally related to complement factor H (fH). Notably, deficiency of CFHR1/CFHR3 associates with protection against age-related macular degeneration and with the presence of anti-fH autoantibodies in atypical hemolytic uremic syndrome (aHUS). We have developed a proteomics strategy to analyze the CFHR proteins in plasma samples from controls, patients with aHUS, and patients with type II membranoproliferative glomerulonephritis. Here, we report on the identification of persons carrying novel deficiencies of CFHR1, CFHR3, and CFHR1/CFHR4A, resulting from point mutations in CFHR1 and CFHR3 or from a rearrangement involving CFHR1 and CFHR4. Remarkably, patients with aHUS lacking CFHR1, but not those lacking CFHR3, present anti-fH autoantibodies, suggesting that generation of these antibodies is specifically related to CFHR1 deficiency. We also report the characterization of a novel CFHR1 polymorphism, resulting from a gene conversion event between CFH and CFHR1, which strongly associates with aHUS. The risk allotype CFHR1*B, with greater sequence similarity to fH, may compete with fH, decreasing protection of cellular surfaces against complement damage. In summary, our comprehensive analyses of the CFHR proteins have improved our understanding of these proteins and provided further insights into aHUS pathogenesis.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0006-4971 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45364  
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Author Abarrategui-Garrido, C.; Melgosa, M.; Peña-Carrión, A.; de Jorge, E.G.; de Cordoba, S.R.; López Trascasa, M.; Sánchez-Corral, P. url  openurl
  Title Mutations in Proteins of the Alternative Pathway of Complement and the Pathogenesis of Atypical Hemolytic Uremic Syndrome Type Journal Article
  Year 2008 Publication Abbreviated Journal Ajkd  
  Volume 52 Issue 1 Pages 171-180  
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  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45368  
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Author Abascal, F.; Juan, D.; Jungreis, I.; Martinez, L.; Rigau, M.; Rodriguez, J.M.; Vazquez, J.; Tress, M.L. openurl 
  Title Loose ends: almost one in five human genes still have unresolved coding status Type Journal Article
  Year 2018 Publication Abbreviated Journal Nucleic Acids Res.  
  Volume Issue Pages  
  Keywords  
  Abstract Seventeen years after the sequencing of the human genome, the human proteome is still under revision. One in eight of the 22 210 coding genes listed by the Ensembl/GENCODE, RefSeq and UniProtKB reference databases are annotated differently across the three sets. We have carried out an in-depth investigation on the 2764 genes classified as coding by one or more sets of manual curators and not coding by others. Data from large-scale genetic variation analyses suggests that most are not under protein-like purifying selection and so are unlikely to code for functional proteins. A further 1470 genes annotated as coding in all three reference sets have characteristics that are typical of non-coding genes or pseudogenes. These potential non-coding genes also appear to be undergoing neutral evolution and have considerably less supporting transcript and protein evidence than other coding genes. We believe that the three reference databases currently overestimate the number of human coding genes by at least 2000, complicating and adding noise to large-scale biomedical experiments. Determining which potential non-coding genes do not code for proteins is a difficult but vitally important task since the human reference proteome is a fundamental pillar of most basic research and supports almost all large-scale biomedical projects.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45369  
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Author Abbasi, F.; Azizi, F.; Javaheri, M.; Mosallanejad, A.; Ebrahim-Habibi, A.; Ghafouri-Fard, S. url  openurl
  Title Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family Type Journal Article
  Year 2015 Publication Abbreviated Journal Gene  
  Volume 557 Issue 1 Pages 103-105  
  Keywords  
  Abstract Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings. The clinical findings in the patients include developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets. A novel 6 nucleotide deletion (c.10611066del6, p.V355S356del2) is shown to be segregated with the disease in this family.  
  Address  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0378-1119 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45434  
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Author Abbassi, V.; Lowe, C.U.; Calcagno, P.L. url  openurl
  Title Oculo-cerebro-renal syndrome. A review Type Journal Article
  Year 1968 Publication Abbreviated Journal Am J Dis Child  
  Volume 115 Issue 2 Pages 145-168  
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  Publisher Place of Publication Editor  
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  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0002-922x ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial 45430  
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