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  1. Article ; Online: ADAMTS-13: double trouble for von Willebrand factor.

    Lenting, P J / Rastegarlari, G

    Journal of thrombosis and haemostasis : JTH

    2010  Volume 8, Issue 12, Page(s) 2775–2777

    MeSH term(s) ADAM Proteins/blood ; ADAMTS13 Protein ; Humans ; Substrate Specificity ; von Willebrand Factor/metabolism
    Chemical Substances von Willebrand Factor ; ADAM Proteins (EC 3.4.24.-) ; ADAMTS13 Protein (EC 3.4.24.87) ; ADAMTS13 protein, human (EC 3.4.24.87)
    Language English
    Publishing date 2010-06-14
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 2112661-6
    ISSN 1538-7836 ; 1538-7933
    ISSN (online) 1538-7836
    ISSN 1538-7933
    DOI 10.1111/j.1538-7836.2010.04124.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MO 295: Show issues

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  2. Article: Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.

    Valikhani, Amir / Mirakhorly, Mojgan / Namvar, Ali / Rastegarlari, Ghasem / Toogeh, Gholamreza / Shirayeh, Fatemeh Vossough / Ahmadinejad, Minoo

    Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis

    2021  Volume 60, Issue 5, Page(s) 103194

    Abstract: Introduction: The diagnosis of hemophilia A (HA) is based on the measurement of factor VIII activity (VIII:C). About one-third of non-severe HA patients show a discrepancy of VIII:C measured by one-stage (VIII:C 1st) and chromogenic (VIII:C chr) assays. ...

    Abstract Introduction: The diagnosis of hemophilia A (HA) is based on the measurement of factor VIII activity (VIII:C). About one-third of non-severe HA patients show a discrepancy of VIII:C measured by one-stage (VIII:C 1st) and chromogenic (VIII:C chr) assays. Different mutations in the F8 gene may cause the discrepancy in results of the FVIII activity assay. The aim of this study was to investigate F8 gene mutations in patients with assay discrepancies and to evaluate their impact on the results of VIII:C assays.
    Methods: Mutation analysis was performed on 41 individuals with a discrepancy in VIII:C 1st and FVIII: C chr assays by direct sequencing. In addition, the effect of the variants on FVIII macromolecule structure was investigated by in silico and bioinformatics tools.
    Results: Genetic analysis disclosed 22 different variants, of which 19 were identified for the first time to be involved in the phenotype of VIII:C discrepancy. Most of the variants related to the higher VIII:C 1st were found in A1, A2, A3 domains. The variant related to VIII:C chr > VIII:C 1st was located in the thrombin cleavage site. In silico analysis showed the effect of variants on FVIII macromolecule stability, which may be the possible mechanism causing the discrepancy.
    Conclusion: Our data shed light on the impact of genetic defects on VIII:C assay and provided evidence that the consideration of these mutations may open a new window to the proper diagnosis and treatment monitoring of non-severe HA patients.
    MeSH term(s) Adult ; Binding Sites ; Blood Coagulation ; Blood Coagulation Tests/methods ; Computational Biology ; Computer Simulation ; DNA Mutational Analysis ; Factor VIII/biosynthesis ; Genetic Testing ; Genetic Variation ; Hemophilia A/blood ; Hemophilia A/genetics ; Humans ; Male ; Mutation ; Mutation, Missense ; Phenotype ; Thrombin
    Chemical Substances Factor VIII (9001-27-8) ; Thrombin (EC 3.4.21.5)
    Language English
    Publishing date 2021-07-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 2046795-3
    ISSN 1878-1683 ; 1473-0502
    ISSN (online) 1878-1683
    ISSN 1473-0502
    DOI 10.1016/j.transci.2021.103194
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: An introduction to induced pluripotent stem cells.

    Hanley, Joanna / Rastegarlari, Ghasem / Nathwani, Amit C

    British journal of haematology

    2010  Volume 151, Issue 1, Page(s) 16–24

    Abstract: Recent landmark studies show that it is now possible to convert somatic cells, such as skin fibroblasts and B lymphocytes, into pluripotent stem cells that closely resemble embryonic stem cells. These induced pluripotent stem (iPS) cells can be generated ...

    Abstract Recent landmark studies show that it is now possible to convert somatic cells, such as skin fibroblasts and B lymphocytes, into pluripotent stem cells that closely resemble embryonic stem cells. These induced pluripotent stem (iPS) cells can be generated without using human embryos or oocytes, thus bypassing some of the ethical issues that have limited the use of human embryonic stems (hES) cells. Additionally, they can be derived from the patient to be treated, thereby overcoming problems of immunological rejection associated with the use of allogeneic hES cell derived progenitors. Whilst these patient-specific iPS cells have great clinical potential, their immediate utility is likely to be in drug screening and for understanding the disease process. This review discusses the promise of iPS cells as well as the challenges to their use in the clinic.
    MeSH term(s) Animals ; Cell Differentiation ; Cellular Reprogramming ; Drug Evaluation, Preclinical/methods ; Embryo Research/ethics ; Embryonic Stem Cells/cytology ; Humans ; Induced Pluripotent Stem Cells/cytology ; Induced Pluripotent Stem Cells/transplantation ; Mice
    Language English
    Publishing date 2010-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 80077-6
    ISSN 1365-2141 ; 0007-1048
    ISSN (online) 1365-2141
    ISSN 0007-1048
    DOI 10.1111/j.1365-2141.2010.08296.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Macrophage LRP1 contributes to the clearance of von Willebrand factor.

    Rastegarlari, Ghasem / Pegon, Julie N / Casari, Caterina / Odouard, Soline / Navarrete, Ana-Maria / Saint-Lu, Nathalie / van Vlijmen, Bart J / Legendre, Paulette / Christophe, Olivier D / Denis, Cécile V / Lenting, Peter J

    Blood

    2012  Volume 119, Issue 9, Page(s) 2126–2134

    Abstract: The relationship between low-density lipoprotein receptor-related protein-1 (LRP1) and von Willebrand factor (VWF) has remained elusive for years. Indeed, despite a reported absence of interaction between both proteins, liver-specific deletion of LRP1 ... ...

    Abstract The relationship between low-density lipoprotein receptor-related protein-1 (LRP1) and von Willebrand factor (VWF) has remained elusive for years. Indeed, despite a reported absence of interaction between both proteins, liver-specific deletion of LRP1 results in increased VWF levels. To investigate this discrepancy, we used mice with a macrophage-specific deficiency of LRP1 (macLRP1(-)) because we previously found that macrophages dominate VWF clearance. Basal VWF levels were increased in macLRP1(-) mice compared with control mice (1.6 ± 0.4 vs 1.0 ± 0.4 U/mL). Clearance experiments revealed that half-life of human VWF was significantly increased in macLRP1(-) mice. Ubiquitous blocking of LRP1 or additional lipoprotein receptors by overexpressing receptor-associated protein in macLRP1(-) mice did not result in further rise of VWF levels (0.1 ± 0.2 U/mL), in contrast to macLRP1(+) mice (rise in VWF, 0.8 ± 0.4 U/mL). This points to macLRP1 being the only lipoprotein receptor regulating VWF levels. When testing the mechanism(s) involved, we observed that VWF-coated beads adhered efficiently to LRP1 but only when exposed to shear forces exceeding 2.5 dyne/cm(2), implying the existence of shear stress-dependent interactions. Furthermore, a mechanism involving β2-integrins that binds both VWF and LRP1 also is implicated because inhibition of β2-integrins led to increased VWF levels in control (rise, 0.19 ± 0.16 U/mL) but not in macLRP1(-) mice (0.08 ± 0.15 U/mL).
    MeSH term(s) Animals ; Factor VIII/metabolism ; Humans ; Integrin beta Chains/metabolism ; Low Density Lipoprotein Receptor-Related Protein-1/genetics ; Low Density Lipoprotein Receptor-Related Protein-1/metabolism ; Macrophages/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Protein Binding ; Receptors, LDL/antagonists & inhibitors ; Shear Strength ; von Willebrand Factor/metabolism
    Chemical Substances Integrin beta Chains ; Low Density Lipoprotein Receptor-Related Protein-1 ; Receptors, LDL ; von Willebrand Factor ; Factor VIII (9001-27-8)
    Language English
    Publishing date 2012-01-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2011-08-373605
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Long-term safety and efficacy following systemic administration of a self-complementary AAV vector encoding human FIX pseudotyped with serotype 5 and 8 capsid proteins.

    Nathwani, Amit C / Rosales, Cecilia / McIntosh, Jenny / Rastegarlari, Ghasem / Nathwani, Devhrut / Raj, Deepak / Nawathe, Sushmita / Waddington, Simon N / Bronson, Roderick / Jackson, Scott / Donahue, Robert E / High, Katherine A / Mingozzi, Federico / Ng, Catherine Y C / Zhou, Junfang / Spence, Yunyu / McCarville, M Beth / Valentine, Marc / Allay, James /
    Coleman, John / Sleep, Susan / Gray, John T / Nienhuis, Arthur W / Davidoff, Andrew M

    Molecular therapy : the journal of the American Society of Gene Therapy

    2011  Volume 19, Issue 5, Page(s) 876–885

    Abstract: Adeno-associated virus vectors (AAV) show promise for liver-targeted gene therapy. In this study, we examined the long-term consequences of a single intravenous administration of a self-complementary AAV vector (scAAV2/ 8-LP1-hFIXco) encoding a codon ... ...

    Abstract Adeno-associated virus vectors (AAV) show promise for liver-targeted gene therapy. In this study, we examined the long-term consequences of a single intravenous administration of a self-complementary AAV vector (scAAV2/ 8-LP1-hFIXco) encoding a codon optimized human factor IX (hFIX) gene in 24 nonhuman primates (NHPs). A dose-response relationship between vector titer and transgene expression was observed. Peak hFIX expression following the highest dose of vector (2 × 10(12) pcr-vector genomes (vg)/kg) was 21 ± 3 µg/ml (~420% of normal). Fluorescent in-situ hybridization demonstrated scAAV provirus in almost 100% of hepatocytes at that dose. No perturbations of clinical or laboratory parameters were noted and vector genomes were cleared from bodily fluids by 10 days. Macaques transduced with 2 × 10(11) pcr-vg/kg were followed for the longest period (~5 years), during which time expression of hFIX remained >10% of normal level, despite a gradual decline in transgene copy number and the proportion of transduced hepatocytes. All macaques developed serotype-specific antibodies but no capsid-specific cytotoxic T lymphocytes were detected. The liver was preferentially transduced with 300-fold more proviral copies than extrahepatic tissues. Long-term biochemical, ultrasound imaging, and histologic follow-up of this large cohort of NHP revealed no toxicity. These data support further evaluation of this vector in hemophilia B patients.
    MeSH term(s) Animals ; Capsid Proteins/genetics ; Capsid Proteins/metabolism ; Dependovirus/genetics ; Factor IX/genetics ; Factor IX/metabolism ; Gene Expression ; Genetic Therapy/methods ; Genetic Vectors ; HEK293 Cells ; Hemophilia B/genetics ; Hemophilia B/therapy ; Humans ; In Situ Hybridization, Fluorescence ; Liver/metabolism ; Macaca ; Mice
    Chemical Substances Capsid Proteins ; Factor IX (9001-28-9)
    Language English
    Publishing date 2011-01-18
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2010592-7
    ISSN 1525-0024 ; 1525-0016
    ISSN (online) 1525-0024
    ISSN 1525-0016
    DOI 10.1038/mt.2010.274
    Database MEDical Literature Analysis and Retrieval System OnLINE

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