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  1. Article ; Online: The Role of Bone Morphogenetic Protein Receptor Type 2 (

    Devendran, Anichavezhi / Kar, Sumanta / Bailey, Rasheed / Trivieri, Maria Giovanna

    Cells

    2022  Volume 11, Issue 23

    Abstract: Pulmonary arterial hypertension (PAH) is a progressive disease characterized by increased pulmonary vascular resistance (PVR), causing right ventricular hypertrophy and ultimately death from right heart failure. Heterozygous mutations in the bone ... ...

    Abstract Pulmonary arterial hypertension (PAH) is a progressive disease characterized by increased pulmonary vascular resistance (PVR), causing right ventricular hypertrophy and ultimately death from right heart failure. Heterozygous mutations in the bone morphogenetic protein receptor type 2 (
    Language English
    Publishing date 2022-11-29
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells11233823
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

    Bailey, Rasheed A / Beahm, Derek L / Skerrett, I Martha

    International journal of molecular sciences

    2021  Volume 22, Issue 5

    Abstract: Glycine is an amino acid with unique properties because its side chain is composed of a single hydrogen atom. It confers conformational flexibility to proteins and conserved glycines are often indicative of protein domains involving tight turns or bends. ...

    Abstract Glycine is an amino acid with unique properties because its side chain is composed of a single hydrogen atom. It confers conformational flexibility to proteins and conserved glycines are often indicative of protein domains involving tight turns or bends. All six beta-type connexins expressed in human epidermis (Cx26, Cx30, Cx30.3, Cx31, Cx31.1 and Cx32) contain a glycine at position 12 (G12). G12 is located about halfway through the cytoplasmic amino terminus and substitutions alter connexin function in a variety of ways, in some cases altering protein interactions and leading to cell death. There is also evidence that alteration of G12 changes the structure of the amino terminus in connexin- and amino acid- specific ways. This review integrates structural, functional and physiological information about the role of G12 in connexins, focusing on beta-connexins expressed in human epidermis. The importance of G12 substitutions in these beta-connexins is revealed in two hereditary skin disorders, keratitis ichthyosis and erythrokeratodermia variabilis, both of which result from missense mutations affecting G12.
    MeSH term(s) Amino Acid Substitution ; Connexins/genetics ; Connexins/metabolism ; Epidermis/metabolism ; Epidermis/pathology ; Erythrokeratodermia Variabilis/genetics ; Erythrokeratodermia Variabilis/metabolism ; Erythrokeratodermia Variabilis/pathology ; Gap Junctions/genetics ; Gap Junctions/metabolism ; Gap Junctions/pathology ; Glycine/genetics ; Glycine/metabolism ; Humans ; Ichthyosis/genetics ; Ichthyosis/metabolism ; Ichthyosis/pathology ; Mutation, Missense
    Chemical Substances Connexins ; Glycine (TE7660XO1C)
    Language English
    Publishing date 2021-03-05
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22052615
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Efficient cardiac gene transfer and early-onset expression of a synthetic adeno-associated viral vector, Anc80L65, after intramyocardial administration.

    Katz, Michael G / Hadas, Yoav / Bailey, Rasheed A / Fazal, Shahood / Vincek, Adam / Madjarova, Sophia J / Shtraizent, Nataly / Vandenberghe, Luk H / Eliyahu, Efrat

    The Journal of thoracic and cardiovascular surgery

    2021  Volume 164, Issue 6, Page(s) e429–e443

    Abstract: Objective: Gene therapy is a promising approach in the treatment of cardiovascular diseases. Preclinical and clinical studies have demonstrated that adeno-associated viral vectors are the most attractive vehicles for gene transfer. However, preexisting ... ...

    Abstract Objective: Gene therapy is a promising approach in the treatment of cardiovascular diseases. Preclinical and clinical studies have demonstrated that adeno-associated viral vectors are the most attractive vehicles for gene transfer. However, preexisting immunity, delayed gene expression, and postinfection immune response limit the success of this technology. The aim of this study was to investigate the efficacy of the first synthetic adeno-associated viral lineage clone, Anc80L65, for cardiac gene therapy.
    Methods: By combining 2 different reporter approaches by fluorescence with green fluorescent protein and bioluminescence (Firefly luciferase), we compared transduction efficiency of Anc80L65 and adeno-associated virus, serotype 9 in neonatal rat cardiomyocytes ex vivo and rat hearts in vivo after intramyocardial and intracoronary administration.
    Results: In cardiomyocytes, Anc80L65 provided a green fluorescent protein expression of 28.9% (36.4 ± 3.34 cells/field) at 24 hours and approximately 100% on day 7. In contrast, adeno-associated virus, serotype 9 green fluorescent protein provided minimal green fluorescent protein expression of 5.64% at 24 hours and 11.8% on day 7. After intramyocardial injection, vector expression peaked on day 7 with Anc80L65; however, with adeno-associated virus, serotype 9 the peak expression was during week 6. Administration of Anc80L65 demonstrated significantly more efficient expression of reporter gene than after adeno-associated virus, serotype 9 at 6 weeks (6.81 ± 0.64 log
    Conclusions: Anc80L65 vector allows fast and robust gene transduction compared with adeno-associated virus, serotype 9 vector in cardiac gene therapy. Anc80L65 did not adversely affect cardiac function and caused no inflammatory response or toxicity.
    MeSH term(s) Rats ; Animals ; Genetic Vectors ; Green Fluorescent Proteins/genetics ; Green Fluorescent Proteins/metabolism ; Dependovirus/genetics ; Genetic Therapy/methods ; Myocytes, Cardiac/metabolism ; Gene Transfer Techniques ; Transduction, Genetic
    Chemical Substances Green Fluorescent Proteins (147336-22-9)
    Language English
    Publishing date 2021-06-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3104-5
    ISSN 1097-685X ; 0022-5223
    ISSN (online) 1097-685X
    ISSN 0022-5223
    DOI 10.1016/j.jtcvs.2021.05.050
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Uk I Zs.104: Show issues Location:
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  4. Article ; Online: Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

    Lee, Danyel / Le Pen, Jérémie / Yatim, Ahmad / Dong, Beihua / Aquino, Yann / Ogishi, Masato / Pescarmona, Rémi / Talouarn, Estelle / Rinchai, Darawan / Zhang, Peng / Perret, Magali / Liu, Zhiyong / Jordan, Iolanda / Elmas Bozdemir, Sefika / Bayhan, Gulsum Iclal / Beaufils, Camille / Bizien, Lucy / Bisiaux, Aurelie / Lei, Weite /
    Hasan, Milena / Chen, Jie / Gaughan, Christina / Asthana, Abhishek / Libri, Valentina / Luna, Joseph M / Jaffré, Fabrice / Hoffmann, H-Heinrich / Michailidis, Eleftherios / Moreews, Marion / Seeleuthner, Yoann / Bilguvar, Kaya / Mane, Shrikant / Flores, Carlos / Zhang, Yu / Arias, Andrés A / Bailey, Rasheed / Schlüter, Agatha / Milisavljevic, Baptiste / Bigio, Benedetta / Le Voyer, Tom / Materna, Marie / Gervais, Adrian / Moncada-Velez, Marcela / Pala, Francesca / Lazarov, Tomi / Levy, Romain / Neehus, Anna-Lena / Rosain, Jérémie / Peel, Jessica / Chan, Yi-Hao / Morin, Marie-Paule / Pino-Ramirez, Rosa Maria / Belkaya, Serkan / Lorenzo, Lazaro / Anton, Jordi / Delafontaine, Selket / Toubiana, Julie / Bajolle, Fanny / Fumadó, Victoria / DeDiego, Marta L / Fidouh, Nadhira / Rozenberg, Flore / Pérez-Tur, Jordi / Chen, Shuibing / Evans, Todd / Geissmann, Frédéric / Lebon, Pierre / Weiss, Susan R / Bonnet, Damien / Duval, Xavier / Pan-Hammarström, Qiang / Planas, Anna M / Meyts, Isabelle / Haerynck, Filomeen / Pujol, Aurora / Sancho-Shimizu, Vanessa / Dalgard, Clifford L / Bustamante, Jacinta / Puel, Anne / Boisson-Dupuis, Stéphanie / Boisson, Bertrand / Maniatis, Tom / Zhang, Qian / Bastard, Paul / Notarangelo, Luigi / Béziat, Vivien / Perez de Diego, Rebeca / Rodriguez-Gallego, Carlos / Su, Helen C / Lifton, Richard P / Jouanguy, Emmanuelle / Cobat, Aurélie / Alsina, Laia / Keles, Sevgi / Haddad, Elie / Abel, Laurent / Belot, Alexandre / Quintana-Murci, Lluis / Rice, Charles M / Silverman, Robert H / Zhang, Shen-Ying / Casanova, Jean-Laurent

    Science (New York, N.Y.)

    2023  Volume 379, Issue 6632, Page(s) eabo3627

    Abstract: Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies ... ...

    Abstract Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of
    MeSH term(s) Child ; Humans ; COVID-19/immunology ; Cytokines/genetics ; Cytokines/immunology ; Endoribonucleases/genetics ; Endoribonucleases/metabolism ; RNA, Double-Stranded ; SARS-CoV-2/genetics ; Systemic Inflammatory Response Syndrome/genetics
    Chemical Substances Cytokines ; Endoribonucleases (EC 3.1.-) ; RNA, Double-Stranded ; OAS1 protein, human (EC 2.7.7.-) ; OAS2 protein, human (EC 2.7.7.-) ; 2-5A-dependent ribonuclease (EC 3.1.26.-) ; MAVS protein, human
    Language English
    Publishing date 2023-02-10
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.abo3627
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MG 77: Show issues

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  5. Article ; Online: Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.

    Rosain, Jérémie / Neehus, Anna-Lena / Manry, Jérémy / Yang, Rui / Le Pen, Jérémie / Daher, Wassim / Liu, Zhiyong / Chan, Yi-Hao / Tahuil, Natalia / Türel, Özden / Bourgey, Mathieu / Ogishi, Masato / Doisne, Jean-Marc / Izquierdo, Helena M / Shirasaki, Takayoshi / Le Voyer, Tom / Guérin, Antoine / Bastard, Paul / Moncada-Vélez, Marcela /
    Han, Ji Eun / Khan, Taushif / Rapaport, Franck / Hong, Seon-Hui / Cheung, Andrew / Haake, Kathrin / Mindt, Barbara C / Pérez, Laura / Philippot, Quentin / Lee, Danyel / Zhang, Peng / Rinchai, Darawan / Al Ali, Fatima / Ahmad Ata, Manar Mahmoud / Rahman, Mahbuba / Peel, Jessica N / Heissel, Søren / Molina, Henrik / Kendir-Demirkol, Yasemin / Bailey, Rasheed / Zhao, Shuxiang / Bohlen, Jonathan / Mancini, Mathieu / Seeleuthner, Yoann / Roelens, Marie / Lorenzo, Lazaro / Soudée, Camille / Paz, María Elvira Josefina / González, María Laura / Jeljeli, Mohamed / Soulier, Jean / Romana, Serge / L'Honneur, Anne-Sophie / Materna, Marie / Martínez-Barricarte, Rubén / Pochon, Mathieu / Oleaga-Quintas, Carmen / Michev, Alexandre / Migaud, Mélanie / Lévy, Romain / Alyanakian, Marie-Alexandra / Rozenberg, Flore / Croft, Carys A / Vogt, Guillaume / Emile, Jean-François / Kremer, Laurent / Ma, Cindy S / Fritz, Jörg H / Lemon, Stanley M / Spaan, András N / Manel, Nicolas / Abel, Laurent / MacDonald, Margaret R / Boisson-Dupuis, Stéphanie / Marr, Nico / Tangye, Stuart G / Di Santo, James P / Zhang, Qian / Zhang, Shen-Ying / Rice, Charles M / Béziat, Vivien / Lachmann, Nico / Langlais, David / Casanova, Jean-Laurent / Gros, Philippe / Bustamante, Jacinta

    Cell

    2023  Volume 186, Issue 3, Page(s) 621–645.e33

    Abstract: Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe ... ...

    Abstract Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, life-threatening diseases caused by weakly virulent mycobacteria and related intramacrophagic pathogens. These children have no history of severe viral disease, despite exposure to many viruses, including SARS-CoV-2, which is life-threatening in individuals with impaired IFN-α/β immunity. In leukocytes or fibroblasts stimulated in vitro, IRF1-dependent responses to IFN-γ are, both quantitatively and qualitatively, much stronger than those to IFN-α/β. Moreover, IRF1-deficient mononuclear phagocytes do not control mycobacteria and related pathogens normally when stimulated with IFN-γ. By contrast, IFN-α/β-dependent intrinsic immunity to nine viruses, including SARS-CoV-2, is almost normal in IRF1-deficient fibroblasts. Human IRF1 is essential for IFN-γ-dependent macrophagic immunity to mycobacteria, but largely redundant for IFN-α/β-dependent antiviral immunity.
    MeSH term(s) Child ; Humans ; Interferon-gamma ; COVID-19 ; SARS-CoV-2 ; Interferon-alpha ; Mycobacterium ; Interferon Regulatory Factor-1
    Chemical Substances Interferon-gamma (82115-62-6) ; Interferon-alpha ; IRF1 protein, human ; Interferon Regulatory Factor-1
    Language English
    Publishing date 2023-01-31
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2022.12.038
    Database MEDical Literature Analysis and Retrieval System OnLINE

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