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  1. Article ; Online: Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex.

    Crow, Yanick J

    Journal of clinical immunology

    2023  Volume 43, Issue 4, Page(s) 706–708

    MeSH term(s) Humans ; Mutation/genetics ; Autoimmune Diseases of the Nervous System/genetics ; Ribonucleases/genetics
    Chemical Substances Ribonucleases (EC 3.1.-)
    Language English
    Publishing date 2023-01-27
    Publishing country Netherlands
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01438-2
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1640: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.

    Della Vecchia, Stefania / Tessa, Alessandra / Pasquariello, Rosa / Seabra, Luis / Crow, Yanick J / Battini, Roberta

    International journal of molecular sciences

    2024  Volume 25, Issue 5

    Abstract: ... ...

    Abstract NOTCH1
    MeSH term(s) Male ; Adolescent ; Humans ; Brain ; Leukoencephalopathies/genetics ; Nervous System Malformations/genetics ; Cysts ; Mutation ; Magnetic Resonance Imaging ; Receptor, Notch1/genetics
    Chemical Substances NOTCH1 protein, human ; Receptor, Notch1
    Language English
    Publishing date 2024-03-01
    Publishing country Switzerland
    Document type Review ; Case Reports
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms25052864
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  3. Article ; Online: Erythrocyte-derived mitochondria take to the lupus stage.

    Lepelley, Alice / Crow, Yanick J

    Cell metabolism

    2021  Volume 33, Issue 9, Page(s) 1723–1725

    Abstract: Mitochondria have emerged as critical players in immune homeostasis and disease. Recently in Cell, while characterizing the removal of mitochondria from red blood cells during human erythropoiesis, Caielli et al. highlight the interferon-inducing ... ...

    Abstract Mitochondria have emerged as critical players in immune homeostasis and disease. Recently in Cell, while characterizing the removal of mitochondria from red blood cells during human erythropoiesis, Caielli et al. highlight the interferon-inducing potential of erythrocyte-derived mitochondria in lupus.
    MeSH term(s) Erythrocytes/metabolism ; Erythropoiesis ; Humans ; Mitochondria
    Language English
    Publishing date 2021-10-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 2176834-1
    ISSN 1932-7420 ; 1550-4131
    ISSN (online) 1932-7420
    ISSN 1550-4131
    DOI 10.1016/j.cmet.2021.08.008
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  4. Article ; Online: STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage.

    Ladoux, Clara / Pasquet, Marlène / Crow, Yanick J / Frémond, Marie Louise / Roditis, Léa

    Journal of clinical immunology

    2023  Volume 43, Issue 4, Page(s) 699–702

    MeSH term(s) Humans ; Infant ; Hemorrhage/diagnosis ; Hemorrhage/etiology ; Inflammation ; Vascular Diseases
    Chemical Substances STING1 protein, human
    Language English
    Publishing date 2023-01-17
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-023-01431-9
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  5. Article ; Online: VEXAS syndrome: Expanding the clinical and molecular spectrum.

    Robert, Marie / Berleur, Marie / Gaudemer, Augustin / Crow, Yanick J / Frémond, Marie-Louise / Sacré, Karim

    Joint bone spine

    2023  Volume 90, Issue 3, Page(s) 105531

    MeSH term(s) Humans ; Mutation ; Myelodysplastic Syndromes/genetics ; Skin Diseases, Genetic
    Language English
    Publishing date 2023-01-20
    Publishing country France
    Document type Case Reports ; Letter
    ZDB-ID 2020487-5
    ISSN 1778-7254 ; 1297-319X
    ISSN (online) 1778-7254
    ISSN 1297-319X
    DOI 10.1016/j.jbspin.2023.105531
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    Zs.A 4590: Show issues Location:
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  6. Article ; Online: The type I interferonopathies: 10 years on.

    Crow, Yanick J / Stetson, Daniel B

    Nature reviews. Immunology

    2021  Volume 22, Issue 8, Page(s) 471–483

    Abstract: As brutally demonstrated by the COVID-19 pandemic, an effective immune system is essential for survival. Developed over evolutionary time, viral nucleic acid detection is a central pillar in the defensive armamentarium used to combat foreign microbial ... ...

    Abstract As brutally demonstrated by the COVID-19 pandemic, an effective immune system is essential for survival. Developed over evolutionary time, viral nucleic acid detection is a central pillar in the defensive armamentarium used to combat foreign microbial invasion. To ensure cellular homeostasis, such a strategy necessitates the efficient discrimination of pathogen-derived DNA and RNA from that of the host. In 2011, it was suggested that an upregulation of type I interferon signalling might serve as a defining feature of a novel set of Mendelian inborn errors of immunity, where antiviral sensors are triggered by host nucleic acids due to a failure of self versus non-self discrimination. These rare disorders have played a surprisingly significant role in informing our understanding of innate immunity and the relevance of type I interferon signalling for human health and disease. Here we consider what we have learned in this time, and how the field may develop in the future.
    MeSH term(s) COVID-19 ; Humans ; Immunity, Innate ; Interferon Type I/genetics ; Nucleic Acids ; Pandemics
    Chemical Substances Interferon Type I ; Nucleic Acids
    Language English
    Publishing date 2021-10-20
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2062776-2
    ISSN 1474-1741 ; 1474-1733
    ISSN (online) 1474-1741
    ISSN 1474-1733
    DOI 10.1038/s41577-021-00633-9
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    Zs.A 5565: Show issues Location:
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  7. Article ; Online: STING-Mediated Lung Inflammation and Beyond.

    Frémond, Marie-Louise / Crow, Yanick J

    Journal of clinical immunology

    2021  Volume 41, Issue 3, Page(s) 501–514

    Abstract: Mendelian autoinflammatory diseases characterized by constitutive activation of the type I interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding group of inborn errors of immunity. Among the type I interferonopathies, ...

    Abstract Mendelian autoinflammatory diseases characterized by constitutive activation of the type I interferon pathway, the so-called type I interferonopathies, constitute a rapidly expanding group of inborn errors of immunity. Among the type I interferonopathies, STING-associated vasculopathy with onset in infancy (SAVI) and COPA syndrome were described in the last 6 years, both manifesting a major inflammatory lung component associated with significant morbidity and increased mortality. There is striking clinical and histopathological overlap between SAVI and COPA syndrome, although distinct features are also present. Of note, there is a remarkably high frequency of clinical non-penetrance among individuals harboring pathogenic COPA mutations. SAVI is caused by, principally heterozygous, gain-of-function mutations in STING1 (previously referred to as TMEM173) encoding STING, a key adaptor of the interferon signaling pathway induced by DNA. COPA syndrome results from heterozygous dominant-negative mutations in the coatomer protein subunit alpha, forming part of a complex involved in intracellular cargo protein transport between the Golgi and the endoplasmic reticulum (ER). Of importance, a role for COPA in regulating the trafficking of STING, an ER-resident protein which translocates to the Golgi during the process of its activation, was recently defined, thereby possibly explaining some aspects of the phenotypic overlap between SAVI and COPA syndrome. Here, we review the expanding phenotype of these diseases, highlighting common as well as specific features, and recent advances in our understanding of STING biology that have informed therapeutic decision-making in both conditions. Beyond these rare Mendelian disorders, DNA sensing through STING is likely relevant to the pathology of several diseases associated with lung inflammation, including systemic lupus erythematosus, dermatomyositis, environmental toxin exposure, and viral infection.
    MeSH term(s) Animals ; Autoimmunity ; Biomarkers ; Disease Management ; Disease Susceptibility/immunology ; Endoplasmic Reticulum/metabolism ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Golgi Apparatus/metabolism ; Humans ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mutation ; Penetrance ; Phenotype ; Pneumonia/diagnosis ; Pneumonia/epidemiology ; Pneumonia/etiology ; Pneumonia/metabolism ; Protein Transport ; Signal Transduction ; Syndrome
    Chemical Substances Biomarkers ; Membrane Proteins ; STING1 protein, human
    Language English
    Publishing date 2021-02-02
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-021-00974-z
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    Zs.A 1640: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: JAK inhibition in the type I interferonopathies.

    Crow, Yanick J / Neven, Bénédicte / Frémond, Marie-Louise

    The Journal of allergy and clinical immunology

    2021  Volume 148, Issue 4, Page(s) 991–993

    MeSH term(s) Autoimmune Diseases/drug therapy ; Hereditary Autoinflammatory Diseases/drug therapy ; Humans ; Interferon Type I ; Janus Kinase Inhibitors/therapeutic use
    Chemical Substances Interferon Type I ; Janus Kinase Inhibitors
    Language English
    Publishing date 2021-08-08
    Publishing country United States
    Document type Editorial
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2021.07.028
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  9. Article ; Online: Taking the STING out of inflammation.

    Uggenti, Carolina / Crow, Yanick J

    Nature reviews. Rheumatology

    2018  Volume 14, Issue 9, Page(s) 508–509

    MeSH term(s) Humans ; Inflammation ; Membrane Proteins
    Chemical Substances Membrane Proteins
    Language English
    Publishing date 2018-08-14
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2491532-4
    ISSN 1759-4804 ; 1759-4790
    ISSN (online) 1759-4804
    ISSN 1759-4790
    DOI 10.1038/s41584-018-0071-z
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    Zs.A 6338: Show issues Location:
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  10. Article ; Online: Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease.

    Lepelley, Alice / Wai, Timothy / Crow, Yanick J

    Frontiers in immunology

    2021  Volume 12, Page(s) 729763

    Abstract: The immune response to viral infection involves the recognition of pathogen-derived nucleic acids by intracellular sensors, leading to type I interferon (IFN), and downstream IFN-stimulated gene, induction. Ineffective discrimination of self from non- ... ...

    Abstract The immune response to viral infection involves the recognition of pathogen-derived nucleic acids by intracellular sensors, leading to type I interferon (IFN), and downstream IFN-stimulated gene, induction. Ineffective discrimination of self from non-self nucleic acid can lead to autoinflammation, a phenomenon implicated in an increasing number of disease states, and well highlighted by the group of rare genetic disorders referred to as the type I interferonopathies. To understand the pathogenesis of these monogenic disorders, and polyfactorial diseases associated with pathogenic IFN upregulation, such as systemic lupus erythematosus and dermatomyositis, it is important to define the self-derived nucleic acid species responsible for such abnormal IFN induction. Recently, attention has focused on mitochondria as a novel source of immunogenic self nucleic acid. Best appreciated for their function in oxidative phosphorylation, metabolism and apoptosis, mitochondria are double membrane-bound organelles that represent vestigial bacteria in the cytosol of eukaryotic cells, containing their own DNA and RNA enclosed within the inner mitochondrial membrane. There is increasing recognition that a loss of mitochondrial integrity and compartmentalization can allow the release of mitochondrial nucleic acid into the cytosol, leading to IFN induction. Here, we provide recent insights into the potential of mitochondrial-derived DNA and RNA to drive IFN production in Mendelian disease. Specifically, we summarize current understanding of how nucleic acids are detected as foreign when released into the cytosol, and then consider the findings implicating mitochondrial nucleic acid in type I interferonopathy disease states. Finally, we discuss the potential for IFN-driven pathology in primary mitochondrial disorders.
    MeSH term(s) Animals ; Autoimmunity ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/immunology ; DNA, Mitochondrial/metabolism ; Humans ; Immunity, Innate ; Interferons/metabolism ; Mitochondria/genetics ; Mitochondria/immunology ; Mitochondria/metabolism ; Mitochondria/pathology ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/immunology ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; RNA, Mitochondrial/genetics ; RNA, Mitochondrial/immunology ; RNA, Mitochondrial/metabolism ; Signal Transduction ; Up-Regulation
    Chemical Substances DNA, Mitochondrial ; RNA, Mitochondrial ; Interferons (9008-11-1)
    Language English
    Publishing date 2021-08-26
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2606827-8
    ISSN 1664-3224 ; 1664-3224
    ISSN (online) 1664-3224
    ISSN 1664-3224
    DOI 10.3389/fimmu.2021.729763
    Database MEDical Literature Analysis and Retrieval System OnLINE

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