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  1. Book ; Online: Towards Mechanism-based Treatments for Fragile X Syndrome

    Kumari, Daman / Gazy, Inbal

    2019  

    Abstract: It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion ... ...

    Abstract It has been more than 25 years since the identification of the FMR1 gene and the demonstration of the causative role of CGG-repeat expansion in the disease pathology of fragile X syndrome (FXS), but the underlying mechanisms involved in the expansion mutation and the resulting gene silencing still remain elusive. Our understanding of the pathways impacted by the loss of FMRP function has grown tremendously, and has opened new avenues for targeted treatments for FXS. However, the failure of recent clinical trials that were based on successful preclinical studies using the Fmr1 knockout mouse model has forced the scientific community to revisit clinical trial design and identify objective outcome measures. There has also been a renewed interest in restoring FMR1 gene expression as a possible treatment approach for FXS. This special issue of Brain Sciences highlights the progress that has been made towards understanding the disease mechanisms and how this has informed the development of treatment strategies that are being explored for FXS.
    Keywords Science (General) ; Biology (General)
    Size 1 electronic resource (250 pages)
    Publisher MDPI - Multidisciplinary Digital Publishing Institute
    Document type Book ; Online
    Note eng ; Open Access
    HBZ-ID HT020323977
    ISBN 9783039215058 ; 9783039215065 ; 3039215051 ; 303921506X
    DOI 10.3390/books978-3-03921-506-5
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: Control of telomere length in yeast by SUMOylated PCNA and the Elg1 PCNA unloader.

    Singh, Pragyan / Gazy, Inbal / Kupiec, Martin

    eLife

    2023  Volume 12

    Abstract: Telomeres cap and protect the linear eukaryotic chromosomes. Telomere length is determined by an equilibrium between positive and negative regulators of telomerase activity. A systematic screen for yeast mutants that affect telomere length maintenance in ...

    Abstract Telomeres cap and protect the linear eukaryotic chromosomes. Telomere length is determined by an equilibrium between positive and negative regulators of telomerase activity. A systematic screen for yeast mutants that affect telomere length maintenance in the yeast
    MeSH term(s) Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Proliferating Cell Nuclear Antigen/genetics ; Telomerase/metabolism ; Telomere-Binding Proteins/genetics ; Telomere-Binding Proteins/metabolism ; Protein Binding ; Telomere/metabolism ; Saccharomyces cerevisiae Proteins/metabolism ; Carrier Proteins/metabolism
    Chemical Substances Proliferating Cell Nuclear Antigen ; Telomerase (EC 2.7.7.49) ; Telomere-Binding Proteins ; Saccharomyces cerevisiae Proteins ; Cdc13 protein, S cerevisiae ; Elg1 protein, S cerevisiae ; Carrier Proteins
    Language English
    Publishing date 2023-08-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.86990
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Towards Mechanism-Based Treatments for Fragile X Syndrome.

    Kumari, Daman / Gazy, Inbal

    Brain sciences

    2019  Volume 9, Issue 8

    Abstract: Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000-8000 people worldwide [ ... ]. ...

    Abstract Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000-8000 people worldwide [...].
    Language English
    Publishing date 2019-08-16
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci9080202
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Image-Based Deep Learning Detection of High-Grade B-Cell Lymphomas Directly from Hematoxylin and Eosin Images.

    Perry, Chava / Greenberg, Orli / Haberman, Shira / Herskovitz, Neta / Gazy, Inbal / Avinoam, Assaf / Paz-Yaacov, Nurit / Hershkovitz, Dov / Avivi, Irit

    Cancers

    2023  Volume 15, Issue 21

    Abstract: Deep learning applications are emerging as promising new tools that can support the diagnosis and classification of different cancer types. While such solutions hold great potential for hematological malignancies, there have been limited studies ... ...

    Abstract Deep learning applications are emerging as promising new tools that can support the diagnosis and classification of different cancer types. While such solutions hold great potential for hematological malignancies, there have been limited studies describing the use of such applications in this field. The rapid diagnosis of double/triple-hit lymphomas (DHLs/THLs) involving
    Language English
    Publishing date 2023-10-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers15215205
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Pharmacological Reactivation of the Silenced

    Kumari, Daman / Gazy, Inbal / Usdin, Karen

    Brain sciences

    2019  Volume 9, Issue 2

    Abstract: More than ~200 CGG repeats in the 5' untranslated region of ... ...

    Abstract More than ~200 CGG repeats in the 5' untranslated region of the
    Language English
    Publishing date 2019-02-12
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci9020039
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: CGG Repeat Expansion, and Elevated

    Gazy, Inbal / Miller, Carson J / Kim, Geum-Yi / Usdin, Karen

    Frontiers in cell and developmental biology

    2020  Volume 8, Page(s) 482

    Abstract: The Fragile-X related disorders (FXDs) are Repeat Expansion Diseases (REDs) that result from expansion of a CGG-repeat tract located at the 5' end of ... ...

    Abstract The Fragile-X related disorders (FXDs) are Repeat Expansion Diseases (REDs) that result from expansion of a CGG-repeat tract located at the 5' end of the
    Language English
    Publishing date 2020-06-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2737824-X
    ISSN 2296-634X
    ISSN 2296-634X
    DOI 10.3389/fcell.2020.00482
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Double-strand break repair plays a role in repeat instability in a fragile X mouse model.

    Gazy, Inbal / Hayward, Bruce / Potapova, Svetlana / Zhao, Xiaonan / Usdin, Karen

    DNA repair

    2018  Volume 74, Page(s) 63–69

    Abstract: Expansion of a CGG-repeat tract in the 5' UTR of FMR1 is responsible for the Fragile X-related disorders (FXDs), FXTAS, FXPOI and FXS. Previous work in a mouse model of these disorders has implicated proteins in the base excision and the mismatch repair ( ...

    Abstract Expansion of a CGG-repeat tract in the 5' UTR of FMR1 is responsible for the Fragile X-related disorders (FXDs), FXTAS, FXPOI and FXS. Previous work in a mouse model of these disorders has implicated proteins in the base excision and the mismatch repair (MMR) pathways in the expansion mechanism. However, the precise role of these factors in this process is not well understood. The essential role of MutLγ, a complex that plays a minor role in MMR but that is essential for resolving Holliday junctions during meiosis, raises the possibility that expansions proceed via a Holliday junction-like intermediate that is processed to generate a double-strand break (DSB). We show here in an FXD mouse model that LIG4, a ligase essential for non-homologous end-joining (NHEJ), a form of DSB repair (DSBR), protects against expansions. However, a mutation in MRE11, a nuclease that is important for several other DSBR pathways including homologous recombination (HR), has no effect on the extent of expansion. Our results suggest that the expansion pathway competes with NHEJ for the processing of a DSB intermediate. Thus, expansion likely proceeds via an NHEJ-independent DSBR pathway that may also be HR-independent.
    MeSH term(s) Animals ; DNA Breaks, Double-Stranded ; DNA End-Joining Repair ; DNA Ligase ATP/metabolism ; DNA Repair ; Disease Models, Animal ; Fragile X Syndrome/genetics ; Hepatocytes/metabolism ; Homologous Recombination ; Male ; Mice ; Mice, Inbred C57BL ; Repetitive Sequences, Nucleic Acid
    Chemical Substances Lig4 protein, mouse ; DNA Ligase ATP (EC 6.5.1.1)
    Language English
    Publishing date 2018-12-21
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Intramural
    ZDB-ID 2071608-4
    ISSN 1568-7856 ; 1568-7864
    ISSN (online) 1568-7856
    ISSN 1568-7864
    DOI 10.1016/j.dnarep.2018.12.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5555: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Genomic instability and repair mediated by common repeated sequences.

    Gazy, Inbal / Kupiec, Martin

    Proceedings of the National Academy of Sciences of the United States of America

    2013  Volume 110, Issue 49, Page(s) 19664–19665

    MeSH term(s) Chromosome Aberrations ; Chromosome Fragile Sites/genetics ; Genomic Instability/genetics ; Saccharomyces cerevisiae/genetics ; Telomere/genetics
    Language English
    Publishing date 2013-11-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 209104-5
    ISSN 1091-6490 ; 0027-8424
    ISSN (online) 1091-6490
    ISSN 0027-8424
    DOI 10.1073/pnas.1320030110
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1148: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  9. Article ; Online: The importance of being modified: PCNA modification and DNA damage response.

    Gazy, Inbal / Kupiec, Martin

    Cell cycle (Georgetown, Tex.)

    2012  Volume 11, Issue 14, Page(s) 2620–2623

    Abstract: PCNA (proliferating cell nuclear antigen) is a sliding clamp that plays important roles during DNA replication and repair. In yeast, PCNA can be modified by either mono- or poly-ubiquitin or by addition of SUMO moieties. These different modifications ... ...

    Abstract PCNA (proliferating cell nuclear antigen) is a sliding clamp that plays important roles during DNA replication and repair. In yeast, PCNA can be modified by either mono- or poly-ubiquitin or by addition of SUMO moieties. These different modifications direct the activity of PCNA toward alternative DNA transactions. In mammals, PCNA ubiquitination was reported, and it seems to have similar effects to those observed in yeast. However, for a long time, no SUMOylation of PCNA could be detected. Two recent papers report the detection of SUMOylated PCNA in mammalian cells. Here, we summarize similarities and differences between the various biological systems and present the current view of the way by which PCNA modification can affect DNA replication and repair pathways.
    MeSH term(s) ATPases Associated with Diverse Cellular Activities ; Adenosine Triphosphatases/metabolism ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; DNA Damage ; DNA Helicases/metabolism ; DNA Repair ; DNA-Binding Proteins/metabolism ; Humans ; Proliferating Cell Nuclear Antigen/metabolism ; Rad51 Recombinase/metabolism ; SUMO-1 Protein/metabolism ; Saccharomyces cerevisiae/metabolism ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism
    Chemical Substances ATAD5 protein, human ; Carrier Proteins ; DNA-Binding Proteins ; Elg1 protein, S cerevisiae ; Proliferating Cell Nuclear Antigen ; SUMO-1 Protein ; Saccharomyces cerevisiae Proteins ; SRS2 protein, S cerevisiae (125481-05-2) ; Rad51 Recombinase (EC 2.7.7.-) ; Adenosine Triphosphatases (EC 3.6.1.-) ; ATPases Associated with Diverse Cellular Activities (EC 3.6.4.-) ; DNA Helicases (EC 3.6.4.-)
    Language English
    Publishing date 2012-07-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2146183-1
    ISSN 1551-4005 ; 1538-4101 ; 1554-8627
    ISSN (online) 1551-4005
    ISSN 1538-4101 ; 1554-8627
    DOI 10.4161/cc.20626
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5881: Show issues Location:
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  10. Article ; Online: Unsuppressed HIV infection impairs T cell responses to SARS-CoV-2 infection and abrogates T cell cross-recognition.

    Nkosi, Thandeka / Chasara, Caroline / Papadopoulos, Andrea O / Nguni, Tiza L / Karim, Farina / Moosa, Mahomed-Yunus S / Gazy, Inbal / Jambo, Kondwani / Hanekom, Willem / Sigal, Alex / Ndhlovu, Zaza M

    eLife

    2022  Volume 11

    Abstract: In some instances, unsuppressed HIV has been associated with severe COVID-19 disease, but the mechanisms underpinning this susceptibility are still unclear. Here, we assessed the impact of HIV infection on the quality and epitope specificity of SARS-CoV- ... ...

    Abstract In some instances, unsuppressed HIV has been associated with severe COVID-19 disease, but the mechanisms underpinning this susceptibility are still unclear. Here, we assessed the impact of HIV infection on the quality and epitope specificity of SARS-CoV-2 T cell responses in the first wave and second wave of the COVID-19 epidemic in South Africa. Flow cytometry was used to measure T cell responses following peripheral blood mononuclear cell stimulation with SARS-CoV-2 peptide pools. Culture expansion was used to determine T cell immunodominance hierarchies and to assess potential SARS-CoV-2 escape from T cell recognition. HIV-seronegative individuals had significantly greater CD4
    MeSH term(s) CD4-Positive T-Lymphocytes ; CD8-Positive T-Lymphocytes ; COVID-19 ; HIV Infections/complications ; Humans ; Leukocytes, Mononuclear ; SARS-CoV-2
    Language English
    Publishing date 2022-07-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2687154-3
    ISSN 2050-084X ; 2050-084X
    ISSN (online) 2050-084X
    ISSN 2050-084X
    DOI 10.7554/eLife.78374
    Database MEDical Literature Analysis and Retrieval System OnLINE

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