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Author Gros, A.; Syvannarath, V.; Lamrani, L.; Ollivier, V.; Loyau, S.; Goerge, T.; Nieswandt, B.; Jandrot-Perrus, M.; Ho-Tin-Noé, B. openurl 
  Title Single platelets seal neutrophil-induced vascular breaches via GPVI during immune complex-mediated inflammation in mice Type Journal Article
  Year 2015 Publication Abbreviated Journal Blood  
  Volume Issue Pages  
  Keywords Confocal; IVM; Microscopy; Model: Mouse; Mouse; Multiphoton; Thrombosis  
  Abstract Platelets protect vascular integrity during inflammation. Recent evidence suggests that this action is independent of thrombus formation and requires the engagement of glycoprotein VI (GPVI), but it remains unclear how platelets prevent inflammatory bleeding. We investigated whether platelets and GPVI act primarily by preventing detrimental effects of neutrophils using models of immune complex(IC)-mediated inflammation in mice immuno-depleted in platelets and/or neutrophils or deficient in GPVI. Depletion of neutrophils prevented bleeding in thrombocytopenic and GPVI-/- mice during IC-mediated dermatitis. GPVI deficiency did not modify neutrophil recruitment, which was however reduced by thrombocytopenia. Neutrophil cytotoxic activities were reduced in thrombocytopenic and GPVI-/- mice during IC-mediated inflammation. Intravital microscopy revealed that in this setting, intravascular binding sites for platelets were exposed by neutrophils, and GPVI supported the recruitment of individual platelets to these spots. Furthermore, the platelet secretory response accompanying IC-mediated inflammation was partly mediated by GPVI and blocking of GPVI signalling impaired the vasculoprotective action of platelets. Together, our results show that GPVI plays a dual role in inflammation by enhancing neutrophil damaging activities while supporting the activation and hemostatic adhesion of single platelets to neutrophil-induced vascular breaches.  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45622  
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Author Astudillo, L.; Sabourdy, F.; Therville, N.; Bode, H.; Ségui, B.; Andrieu-Abadie, N.; Hornemann, T.; Levade, T. url  openurl
  Title Human genetic disorders of sphingolipid biosynthesis Type Journal Article
  Year 2015 Publication Abbreviated Journal J Inherit Metab Dis  
  Volume 38 Issue 1 Pages 65-76  
  Keywords research support, non-u.s. gov’t; lipid human disease  
  Abstract Monogenic defects of sphingolipid biosynthesis have been recently identified in human patients. These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine models deficient for the corresponding enzymes. In quite good agreement with the known critical roles of sphingolipids in cells from the nervous system and the epidermis, these genetic defects clinically manifest as neurological disorders, including paraplegia, epilepsy or peripheral neuropathies, or present with ichthyosis. The present review summarizes the genetic alterations, biochemical changes and clinical symptoms of this new group of inherited metabolic disorders. Hypotheses regarding the molecular pathophysiology and potential treatments of these diseases are also discussed.  
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  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0141-8955 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45621  
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Author Adebayo, D.; Morabito, V.; Davenport, A.; Jalan, R. url  openurl
  Title Renal dysfunction in cirrhosis is not just a vasomotor nephropathy Type Journal Article
  Year 2015 Publication Abbreviated Journal Kidney Int  
  Volume 87 Issue 3 Pages 509-515  
  Keywords  
  Abstract The short-term mortality of cirrhotic patients who develop renal dysfunction remains unacceptably high, and as such the treatment of this condition is an unmet need. Although features of kidney injury are well recognized in these patients, the pathophysiology is complex and not completely understood. Improved understanding of the pathophysiological mechanisms involved in renal dysfunction occurring on a background of cirrhosis is key to developing effective treatment strategies to improve survival. Renal dysfunction due to hepatorenal syndrome (HRS) is characteristic of cirrhosis. Our current understanding is that HRS is functional in nature and occurs as a consequence of hemodynamic changes associated with portal hypertension. However, there is evidence in the literature suggesting that, histologically, the kidneys are not always normal in the vast majority of patients who present with renal dysfunction on the background of cirrhosis. Furthermore, there is emerging data implicating nonvasomotor mechanisms in the pathophysiology of renal dysfunction in cirrhosis. This mini-review aims to present the evidence suggesting that factors other than hemodynamic dysregulation have an important role in the development of this major complication for patients with progressive cirrhosis.  
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  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0085-2538 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45609  
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Author Alkuraya, F.S. url  openurl
  Title Human knockout research: new horizons and opportunities Type Journal Article
  Year 2015 Publication Abbreviated Journal Trends Genet  
  Volume 31 Issue 2 Pages 108-115  
  Keywords  
  Abstract Although numerous approaches have been pursued to understand the function of human genes, Mendelian genetics has by far provided the most compelling and medically actionable dataset. Biallelic loss-of-function (LOF) mutations are observed in the majority of autosomal recessive Mendelian disorders, representing natural human knockouts and offering a unique opportunity to study the physiological and developmental context of these genes. The restriction of such context to ‘disease’ states is artificial, however, and the recent ability to survey entire human genomes for biallelic LOF mutations has revealed a surprising landscape of knockout events in ‘healthy’ individuals, sparking interest in their role in phenotypic diversity beyond disease causation. As I discuss in this review, the potentially wide implications of human knockout research warrant increased investment and multidisciplinary collaborations to overcome existing challenges and reap its benefits.  
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  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0168-9525 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45506  
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Author Abraham, G.; Inouye, M. url  openurl
  Title Genomic risk prediction of complex human disease and its clinical application Type Journal Article
  Year 2015 Publication Abbreviated Journal Curr Opin Genet Dev  
  Volume 33 Issue Pages 10-16  
  Keywords  
  Abstract Recent advances in genome-wide association studies have stimulated interest in the genomic prediction of disease risk, potentially enabling individual-level risk estimates for early intervention and improved diagnostic procedures. Here, we review recent findings and approaches to genomic prediction model construction and performance, then contrast the potential benefits of such models in two complex human diseases, aiding diagnosis in celiac disease and prospective risk prediction for cardiovascular disease. Early indications are that optimal application of genomic risk scores will differ substantially for each disease depending on underlying genetic architecture as well as current clinical and public health practice. As costs decline, genomic profiles become common, and popular understanding of risk and its communication improves, genomic risk will become increasingly useful for the individual and the clinician.  
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  Language Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0959-437x ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45437  
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Author ACMG, B. of D. url  openurl
  Title ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing Type Journal Article
  Year 2015 Publication Abbreviated Journal Genet Med  
  Volume 17 Issue 1 Pages 68-69  
  Keywords  
  Abstract DISCLAIMER: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient’s record the rationale for any significant deviation from these recommendations.  
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  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1098-3600 ISBN Medium  
  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45436  
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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  
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  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.  
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  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 (down) 45434  
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Author Adamek, M.; Opelz, G.; Klein, K.; Morath, C.; Tran, T.H. url  openurl
  Title A fast and simple method for detecting and quantifying donor-derived cell-free DNA in sera of solid organ transplant recipients as a biomarker for graft function Type Journal Article
  Year 2015 Publication Abbreviated Journal Clin Chem Lab Med  
  Volume Issue Pages  
  Keywords  
  Abstract BACKGROUND: Timely detection of graft rejection is an important issue in the follow-up care after solid organ transplantation. Until now, biopsy has been considered the “gold standard” in the diagnosis of graft rejection. However, non-invasive tests such as monitoring the levels of cell-free DNA (cfDNA) as a sensitive biomarker for graft integrity have attracted increasing interest. The rationale of this approach is that a rejected organ will lead to a significant release of donor-derived cfDNA, which can be detected in the serum of the transplant recipient. METHODS: We have developed a novel quantitative real-time PCR (qPCR) approach for detecting an increase of donor-derived cfDNA in the recipient’s serum. Common insertion/deletion (InDel) genetic polymorphisms, which differ between donor and recipient, are targeted in our qPCR assay. In contrast to some other strategies, no specific donor/recipient constellations such as certain gender combinations or human leukocyte antigen (HLA) discrepancies are required for the application of our test. RESULTS: The method was first validated with serial dilutions of serum mixtures obtained from healthy blood donors and then used to determine donor-derived cfDNA levels in patients’ sera within the first 3 days after their kidney transplantation had been performed. CONCLUSIONS: Our method represents a universally applicable, simple and cost-effective tool which can potentially be used to detect graft dysfunction in transplant recipients.  
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  ISSN 1434-6621 ISBN Medium  
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  Notes Approved no  
  Call Number UofT @ mathieu.lemaire @ Serial (down) 45414  
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Author Trivedi, Mahendra Kumar; Branton, Alice; Trivedi, Dahryn; Nayak, Gopal; Saikia, Gunin; Jana, Snehasis url  doi
openurl 
  Title Mass Spectrometry Analysis of Isotopic Abundance of 13C, 2H, or 15N in Biofield Energy Treated Aminopyridine Derivatives Type Journal Article
  Year 2015 Publication American Journal of Physical Chemistry Abbreviated Journal  
  Volume 4 Issue 6 Pages 65-70  
  Keywords Biofield Energy Treatment; 2-Aminopyridine; 2-6-Diaminopyridine; Gas Chromatography-Mass Spectrometry  
  Abstract 2-Aminopyridine (2-AP) and 2,6-diaminopyridine (2,6-DAP) are two derivatives of aminopyridines that act as an important organic intermediates, mostly used in medicines, dyes and organic sensors. The aim of the study was to evaluate the impact of biofield energy treatment on isotopic abundance ratios of 2H/1H, 13C/12C, or 15N/14N, in aminopyridine derivatives using gas chromatography-mass spectrometry (GC-MS). The 2-AP and 2,6-DAP samples were divided into two parts: control and treated. The control sample remained as untreated, while the treated sample was further divided into four groups as T1, T2, T3, and T4. The treated group was subjected to Mr. Trivedi’s biofield energy treatment. The GC-MS spectra of 2-AP and 2,6-DAP showed five and six m/z peaks respectively due to the molecular ion peak and fragmented peaks of aminopyridine derivatives. The isotopic abundance ratio of 2H/1H, 13C/12C, or 15N/14N were calculated for both the derivatives and significant alteration was found in the treated samples as compared to the respective control. The isotopic abundance ratio of 2H/1H, 13C/12C, or 15N/14N in treated samples of 2-AP was decreased by 55.83% in T1 and significantly increased by 202.26% in T4. However, in case of 2,6-DAP, the isotopic abundance ratio of 2H/1H, 13C/12C, and 15N/14N, in the treated sample showed a significant increase (up to 370.54% in T3) with respect to the control. GC-MS data suggested that the biofield energy treatment on aminopyridine derivatives had significantly altered the isotopic abundance of 2H, 13C, or 15N in the treated 2-AP and 2,6-DAP as compared to the control.  
  Address  
  Corporate Author Thesis  
  Publisher Science Publishing Group Place of Publication United States Editor  
  Language English Summary Language English Original Title Mass Spectrometry Analysis of Isotopic Abundance of 13C, 2H, or 15N in Biofield Energy Treated Aminopyridine Derivatives  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2327-2430 (Print); 2327-2449 (Online) ISBN Medium  
  Area Organic Compounds Expedition Conference  
  Notes Approved yes  
  Call Number Trivedi Global Inc. @ gopal @ Serial (down) 45361  
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Author Surinova, S.; Choi, M.; Tao, S.; Schüffler, P.J.; Chang, C.Y.; Clough, T.; Vysloužil, K.; Khoylou, M.; Srovnal, J.; Liu, Y.; Matondo, M.; Hüttenhain, R.; Weisser, H.; Buhmann, J.M.; Hajdúch, M.; Brenner, H.; Vitek, O.; Aebersold, R. url  openurl
  Title Prediction of colorectal cancer diagnosis based on circulating plasma proteins Type Journal Article
  Year 2015 Publication Abbreviated Journal EMBO Mol Med  
  Volume 7 Issue 9 Pages 1166-1178  
  Keywords  
  Abstract Non-invasive detection of colorectal cancer with blood-based markers is a critical clinical need. Here we describe a phased mass spectrometry-based approach for the discovery, screening, and validation of circulating protein biomarkers with diagnostic value. Initially, we profiled human primary tumor tissue epithelia and characterized about 300 secreted and cell surface candidate glycoproteins. These candidates were then screened in patient systemic circulation to identify detectable candidates in blood plasma. An 88-plex targeting method was established to systematically monitor these proteins in two large and independent cohorts of plasma samples, which generated quantitative clinical datasets at an unprecedented scale. The data were deployed to develop and evaluate a five-protein biomarker signature for colorectal cancer detection.  
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  Area Expedition Conference  
  Notes Approved no  
  Call Number UofT @ ankit.sinha @ Serial (down) 45345  
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