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  1. Article ; Online: Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.

    Desroziers, Tifenn / Prévot, Grégoire / Coulomb, Aurore / Nau, Valérie / Dastot-Le Moal, Florence / Duquesnoy, Philippe / Héry, Mélanie / Le Borgne, Aurélie / Amselem, Serge / Legendre, Marie / Nathan, Nadia

    European journal of human genetics : EJHG

    2023  Volume 31, Issue 9, Page(s) 1083–1087

    Abstract: Biallelic pathogenic variants in the surfactant protein (SP)-B gene (SFTPB) have been associated with fatal forms of interstitial lung diseases (ILD) in newborns and exceptional survival in young children. We herein report the cases of two related adults ...

    Abstract Biallelic pathogenic variants in the surfactant protein (SP)-B gene (SFTPB) have been associated with fatal forms of interstitial lung diseases (ILD) in newborns and exceptional survival in young children. We herein report the cases of two related adults with pulmonary fibrosis due to a new homozygous SFTPB pathogenic variant, c.582G>A p.(Gln194=). In vitro transcript studies showed that this SFTPB synonymous pathogenic variant induces aberrant splicing leading to three abnormal transcripts with the preservation of the expression of a small proportion of normal SFTPB transcripts. Immunostainings on lung biopsies of the proband showed an almost complete loss of SP-B expression. This hypomorphic splice variant has thus probably allowed the patients' survival to adulthood while inducing an epithelial cell dysfunction leading to ILD. Altogether, this report shows that SFTPB pathogenic variants should be considered in atypical presentations and/or early-onset forms of ILD particularly when a family history is identified.
    MeSH term(s) Adult ; Child ; Child, Preschool ; Humans ; Infant, Newborn ; Lung Diseases, Interstitial/diagnosis ; Lung Diseases, Interstitial/genetics ; Pulmonary Fibrosis/genetics ; Pulmonary Surfactant-Associated Protein B/genetics
    Chemical Substances Pulmonary Surfactant-Associated Protein B ; SFTPB protein, human
    Language English
    Publishing date 2023-06-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-023-01413-w
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
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  2. Article ; Online: Tracking receptor motions at the plasma membrane reveals distinct effects of ligands on CCR5 dynamics depending on its dimerization status.

    Momboisse, Fanny / Nardi, Giacomo / Colin, Philippe / Hery, Melanie / Cordeiro, Nelia / Blachier, Simon / Schwartz, Olivier / Arenzana-Seisdedos, Fernando / Sauvonnet, Nathalie / Olivo-Marin, Jean-Christophe / Lagane, Bernard / Lagache, Thibault / Brelot, Anne

    eLife

    2022  Volume 11

    Abstract: G-protein-coupled receptors (GPCR) are present at the cell surface in different conformational and oligomeric states. However, how these states impact GPCRs biological function and therapeutic targeting remains incompletely known. Here, we investigated ... ...

    Abstract G-protein-coupled receptors (GPCR) are present at the cell surface in different conformational and oligomeric states. However, how these states impact GPCRs biological function and therapeutic targeting remains incompletely known. Here, we investigated this issue in living cells for the CC chemokine receptor 5 (CCR5), a major receptor in inflammation and the principal entry co-receptor for Human Immunodeficiency Viruses type 1 (HIV-1). We used TIRF microscopy and a statistical method to track and classify the motion of different receptor subpopulations. We showed a diversity of ligand-free forms of CCR5 at the cell surface constituted of various oligomeric states and exhibiting transient Brownian and restricted motions. These forms were stabilized differently by distinct ligands. In particular, agonist stimulation restricted the mobility of CCR5 and led to its clustering, a feature depending on β-arrestin, while inverse agonist stimulation exhibited the opposite effect. These results suggest a link between receptor activation and immobilization. Applied to HIV-1 envelope glycoproteins gp120, our quantitative analysis revealed agonist-like properties of gp120s. Distinct gp120s influenced CCR5 dynamics differently, suggesting that they stabilize different CCR5 conformations. Then, using a dimerization-compromized mutant, we showed that dimerization (i) impacts CCR5 precoupling to G proteins, (ii) is a pre-requisite for the immobilization and clustering of receptors upon activation, and (iii) regulates receptor endocytosis, thereby impacting the fate of activated receptors. This study demonstrates that tracking the dynamic behavior of a GPCR is an efficient way to link GPCR conformations to their functions, therefore improving the development of drugs targeting specific receptor conformations.
    MeSH term(s) Cell Membrane/metabolism ; HIV-1/physiology ; Humans ; Ligands ; Protein Multimerization ; Receptors, CCR5/metabolism ; Receptors, G-Protein-Coupled/metabolism
    Chemical Substances CCR5 protein, human ; Ligands ; Receptors, CCR5 ; Receptors, G-Protein-Coupled
    Language English
    Publishing date 2022-07-22
    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.76281
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  3. Article: Specificities and Commonalities of Carbapenemase-Producing Escherichia coli Isolated in France from 2012 to 2015.

    Patiño-Navarrete, Rafael / Rosinski-Chupin, Isabelle / Cabanel, Nicolas / Zongo, Pengdbamba Dieudonné / Héry, Mélanie / Oueslati, Saoussen / Girlich, Delphine / Dortet, Laurent / Bonnin, Rémy A / Naas, Thierry / Glaser, Philippe

    mSystems

    2022  Volume 7, Issue 1, Page(s) e0116921

    Abstract: Carbapenemase-producing Escherichia coli (CP- ...

    Abstract Carbapenemase-producing Escherichia coli (CP-
    Language English
    Publishing date 2022-01-11
    Publishing country United States
    Document type Journal Article
    ISSN 2379-5077
    ISSN 2379-5077
    DOI 10.1128/msystems.01169-21
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  4. Article ; Online: Low CCR5 expression protects HIV-specific CD4+ T cells of elite controllers from viral entry.

    Claireaux, Mathieu / Robinot, Rémy / Kervevan, Jérôme / Patgaonkar, Mandar / Staropoli, Isabelle / Brelot, Anne / Nouël, Alexandre / Gellenoncourt, Stacy / Tang, Xian / Héry, Mélanie / Volant, Stevenn / Perthame, Emeline / Avettand-Fenoël, Véronique / Buchrieser, Julian / Cokelaer, Thomas / Bouchier, Christiane / Ma, Laurence / Boufassa, Faroudy / Hendou, Samia /
    Libri, Valentina / Hasan, Milena / Zucman, David / de Truchis, Pierre / Schwartz, Olivier / Lambotte, Olivier / Chakrabarti, Lisa A

    Nature communications

    2022  Volume 13, Issue 1, Page(s) 521

    Abstract: HIV elite controllers maintain a population of CD4 + T cells endowed with high avidity for Gag antigens and potent effector functions. How these HIV-specific cells avoid infection and depletion upon encounter with the virus remains incompletely ... ...

    Abstract HIV elite controllers maintain a population of CD4 + T cells endowed with high avidity for Gag antigens and potent effector functions. How these HIV-specific cells avoid infection and depletion upon encounter with the virus remains incompletely understood. Ex vivo characterization of single Gag-specific CD4 + T cells reveals an advanced Th1 differentiation pattern in controllers, except for the CCR5 marker, which is downregulated compared to specific cells of treated patients. Accordingly, controller specific CD4 + T cells show decreased susceptibility to CCR5-dependent HIV entry. Two controllers carried biallelic mutations impairing CCR5 surface expression, indicating that in rare cases CCR5 downregulation can have a direct genetic cause. Increased expression of β-chemokine ligands upon high-avidity antigen/TCR interactions contributes to autocrine CCR5 downregulation in controllers without CCR5 mutations. These findings suggest that genetic and functional regulation of the primary HIV coreceptor CCR5 play a key role in promoting natural HIV control.
    MeSH term(s) CD4-Positive T-Lymphocytes/immunology ; Chemokines ; Down-Regulation ; Elite Controllers ; Gene Expression Regulation ; Gene Products, gag/metabolism ; HIV Infections/immunology ; HIV Infections/virology ; HIV-1/immunology ; Histocompatibility Antigens Class II ; Humans ; Mutation ; Receptors, CCR5/genetics ; Receptors, CCR5/metabolism ; Receptors, CXCR3 ; Virus Internalization
    Chemical Substances CCR5 protein, human ; CXCR3 protein, human ; Chemokines ; Gene Products, gag ; Histocompatibility Antigens Class II ; Receptors, CCR5 ; Receptors, CXCR3
    Language English
    Publishing date 2022-01-26
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-022-28130-0
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  5. Article ; Online: First outbreak of OXA-48-positive carbapenem-resistant Klebsiella pneumoniae isolates in Constantine, Algeria.

    Cuzon, Gaelle / Bentchouala, Chafia / Vogel, Anais / Héry, Mélanie / Lezzar, Abdesselam / Smati, Farida / Dortet, Laurent / Naas, Thierry

    International journal of antimicrobial agents

    2015  Volume 46, Issue 6, Page(s) 725–727

    MeSH term(s) Adult ; Algeria ; Anti-Bacterial Agents/therapeutic use ; Carbapenems/therapeutic use ; Child ; Disease Outbreaks ; Drug Resistance, Multiple, Bacterial ; Female ; Humans ; Klebsiella Infections/drug therapy ; Klebsiella Infections/microbiology ; Klebsiella pneumoniae/drug effects ; Klebsiella pneumoniae/genetics ; Klebsiella pneumoniae/isolation & purification ; Klebsiella pneumoniae/metabolism ; Male ; Middle Aged ; beta-Lactamases/biosynthesis ; beta-Lactamases/genetics ; beta-Lactamases/metabolism
    Chemical Substances Anti-Bacterial Agents ; Carbapenems ; beta-Lactamases (EC 3.5.2.6) ; oxacillinase (EC 3.5.2.6)
    Language English
    Publishing date 2015-12
    Publishing country Netherlands
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 1093977-5
    ISSN 1872-7913 ; 0924-8579
    ISSN (online) 1872-7913
    ISSN 0924-8579
    DOI 10.1016/j.ijantimicag.2015.08.005
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    Zs.A 3368: Show issues Location:
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    Zs.MO 500: Show issues

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  6. Article ; Online: Functional assessment and phenotypic heterogeneity of

    Legendre, Marie / Butt, Afifaa / Borie, Raphaël / Debray, Marie-Pierre / Bouvry, Diane / Filhol-Blin, Emilie / Desroziers, Tifenn / Nau, Valérie / Copin, Bruno / Dastot-Le Moal, Florence / Héry, Mélanie / Duquesnoy, Philippe / Allou, Nathalie / Bergeron, Anne / Bermudez, Julien / Cazes, Aurélie / Chene, Anne-Laure / Cottin, Vincent / Crestani, Bruno /
    Dalphin, Jean-Charles / Dombret, Christine / Doray, Bérénice / Dupin, Clairelyne / Giraud, Violaine / Gondouin, Anne / Gouya, Laurent / Israël-Biet, Dominique / Kannengiesser, Caroline / Le Borgne, Aurélie / Leroy, Sylvie / Longchampt, Elisabeth / Lorillon, Gwenaël / Nunes, Hilario / Picard, Clément / Reynaud-Gaubert, Martine / Traclet, Julie / de Vuyst, Paul / Coulomb L'Hermine, Aurore / Clement, Annick / Amselem, Serge / Nathan, Nadia

    The European respiratory journal

    2020  Volume 56, Issue 6

    Abstract: Introduction: Interstitial lung diseases (ILDs) can be caused by mutations in the : Methods: The consequences of the 11 : Results: For the 11 identified mutations, protein production was preserved but secretion was abolished. The expression ... ...

    Abstract Introduction: Interstitial lung diseases (ILDs) can be caused by mutations in the
    Methods: The consequences of the 11
    Results: For the 11 identified mutations, protein production was preserved but secretion was abolished. The expression pattern of lung SP-A available in six patients was altered and the family history reported ILD and/or lung adenocarcinoma in 13 out of 14 families (93%). Among the 28
    Discussion: This study, which expands the molecular and clinical spectrum of SP-A disorders, shows that pathogenic
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Humans ; Infant ; Lung Diseases, Interstitial/genetics ; Lung Neoplasms/genetics ; Middle Aged ; Mutation ; Phenotype ; Pulmonary Surfactant-Associated Protein A/genetics ; Young Adult
    Chemical Substances Pulmonary Surfactant-Associated Protein A ; SFTPA1 protein, human ; SFTPA2 protein, human
    Language English
    Publishing date 2020-12-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639359-7
    ISSN 1399-3003 ; 0903-1936
    ISSN (online) 1399-3003
    ISSN 0903-1936
    DOI 10.1183/13993003.02806-2020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 2322: Show issues Location:
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    Zs.MO 292: Show issues

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