Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Ariane Chapgier"'
Autor:
Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Guillaume Vogt, Jacqueline Feinberg, Ada Prochnicka-Chalufour, Armanda Casrouge, Kun Yang, Claire Soudais, Claire Fieschi, Orchidée Filipe Santos, Jacinta Bustamante, Capucine Picard, Ludovic de Beaucoudrey, Jean-François Emile, Peter D Arkwright, Robert D Schreiber, Claudia Rolinck-Werninghaus, Angela Rösen-Wolff, Klaus Magdorf, Joachim Roesler, Jean-Laurent Casanova
Publikováno v:
PLoS Genetics, Vol 2, Iss 8, p e131 (2006)
The transcription factor signal transducer and activator of transcription-1 (STAT1) plays a key role in immunity against mycobacterial and viral infections. Here, we characterize three human STAT1 germline alleles from otherwise healthy patients with
Externí odkaz:
https://doaj.org/article/58ebed901459444195e57dda4379cf28
Autor:
Daniel Dilg, Rasha Noureldin M. Saleh, Abla Ahmed Abou Zeid, Doaa I. Hashad, Ariane Chapgier, Peter J. Scambler
Publikováno v:
Molecular Biology Reports
HIRA is a histone chaperone known to modulate gene expression through the deposition of H3.3. Conditional knockout of Hira in embryonic mouse hearts leads to cardiac septal defects. Loss of function mutation in HIRA, together with other chromatin mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ae51d4def1b6753f19f67efbc84bc51
https://ueaeprints.uea.ac.uk/id/eprint/73275/
https://ueaeprints.uea.ac.uk/id/eprint/73275/
Autor:
Estefanía Herrera-Ramos, José Gonçalo-Marques, Ana Cordeiro, María Cárdenes, José Luis Pérez-Arellano, Mónica Valerón-Lemaur, Katia Abarca, José Luerez Arellano Bustamante, Laurent Abel, Adela Francés, Elena Colino, Paweł Remiszewski, Stéphanie Boisson-Dupuis, Jacqueline Feinberg, Esther Santiago, Stéphane Blanche, Carmen Navarrete, Xiao-Fei Kong, Capucine Picard, José Pestano, M. Isabel García-Laorden, Alexandra F. Freeman, Jose Antonio Caminero, Steven M. Holland, Quentin B. Vincent, Jean-Laurent Casanova, Lucile Janniere, José Manuel García-Castellano, Luisa Silveira, Leandro Fernández-Pérez, Emília Faria, Ithaisa Sologuren, Carlos Rodríguez-Gallego, Ariane Chapgier
Publikováno v:
Human Molecular Genetics. 20:1509-1523
We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-γR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygo
Autor:
Peter W. Lewis, Ya Li Lee, Deyou Zheng, Kyung-Min Noh, Chingwen Yang, Ariane Chapgier, Scott Dewell, Laura A. Banaszynski, Peter J. Scambler, David Garrick, Martin J. Law, Shahin Rafii, Elizabeth A. Boydston, Richard J. Gibbons, Xingyi Guo, Aaron D Goldberg, C. David Allis, Xuan Li, Duancheng Wen, Simon J. Elsaesser, Michael C. Holmes, John M. Greally, Russell Dekelver, Ileana M. Cristea, Jeffrey C. Miller, Sonja C. Stadler, Fyodor D. Urnov, Philip D. Gregory, Douglas R. Higgs
Publikováno v:
Cell. 140:678-691
The incorporation of histone H3 variants has been implicated in the epigenetic memory of cellular state. Using genome editing with zinc finger nucleases to tag endogenous H3.3, we report genome-wide profiles of H3 variants in mammalian embryonic stem
Disseminated Mycobacterium scrofulaceum infection in a child with interferon-γ receptor 1 deficiency
Autor:
Enrico Tortoli, Ariane Chapgier, Anna Dell'Acqua, Jacqueline Feinberg, Vito Pistoia, Jean-Laurent Casanova, Anna Carla Defilippi, Cesarina Savioli, Marazzi Mg, Sara Mangini
Publikováno v:
International Journal of Infectious Diseases. 14:e167-e170
Disseminated disease caused by non-tuberculous, environmental mycobacteria (EM) reflects impaired host immunity. Disseminated disease caused by Mycobacterium scrofulaceum has primarily been reported in patients with AIDS. Moreover, observing M. scrof
Autor:
Guillaume Vogt, Diana Averbuch, Jacinta Bustamante, Julien Lejeune, Dan Engelhard, Jean-Laurent Casanova, Xiao-Fei Kong, Ludovic de Beaucoudrey, Ariane Chapgier, Stéphanie Boisson-Dupuis, Shen-Ying Zhang, Laurent Abel, Jacqueline Feinberg, Eleonore Mayola, Emmanuelle Jouanguy
Publikováno v:
Journal of Clinical Investigation. 119:1502-1514
Complete STAT1 deficiency is an autosomal recessive primary immunodeficiency caused by null mutations that abolish STAT1-dependent cellular responses to both IFN-alpha/beta and IFN-gamma. Affected children suffer from lethal intracellular bacterial a
Autor:
Capucine Picard, Jacinta Bustamante, Ariane Chapgier, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Emmanuelle Jouanguy, Kun Yang, Laurent Abel, Anne Puel, Shen-Ying Zhang
Publikováno v:
Immunological Reviews. 226:29-40
Interferon (IFN) was originally identified as a substance 'interfering' with viral replication in vitro. The first IFNs to be identified were classified as type I IFNs (IFN-alpha/beta and related molecules), two other types have since been identified
Autor:
Capucine Picard, Ariane Chapgier, Vanessa Sancho-Shimizu, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Anne Puel, Laurent Abel, Emmanuelle Jouanguy, Shen-Ying Zhang
Publikováno v:
Biochimie. 89:878-883
Type I interferons (IFN-alpha/beta and related molecules) are essential for protective immunity to experimental infection by numerous viruses in the mouse model. In recent years, human primary immunodeficiencies affecting either the production of (UN
Autor:
Guillaume Vogt, Capucine Picard, Claire Fieschi, Ludovic de Beaucoudrey, Stéphanie Boisson-Dupuis, Ariane Chapgier, Jacqueline Feinberg, Emmanuelle Jouanguy, Orchidée Filipe-Santos, Jean-Laurent Casanova, Jacinta Bustamante
Publikováno v:
Seminars in Immunology. 18:347-361
Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal ge
Autor:
Capucine Picard, Guillaume Vogt, Ariane Chapgier, J.-L. Casanova, Orchidée Filipe-Santos, H. von Bernuth
Publikováno v:
Archives de Pédiatrie. 13:1342-1346
The classic primary immunodeficiencies confer predisposition to multiple infectious diseases. However since ten years severe pediatric infections which were idiopathic have now molecular explanation. Indeed, defects in several genes confer a predispo