Publications by authors named "Ariane Chapgier"

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HIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells.
Rasha Noureldin M Saleh, Daniel Dilg, Abla A Abou Zeid, Doaa I Hashad, Peter J Scambler, Ariane L A Chapgier

Mol Biol Rep· October 2018

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HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3.
Daniel Dilg, Rasha Noureldin M Saleh, Sarah Elizabeth Lee Phelps, Yoann Rose, Laurent Dupays, Ariane L A Chapgier

PLoS One· August 2017

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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Ariane Chapgier

J Med Genet· March 2015

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Hira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells.
Laura A Banaszynski, Duancheng Wen, Scott Dewell, Sarah J Whitcomb, Mingyan Lin, Ariane Chapgier

Cell· September 2013

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Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Xiao-Fei Kong, Guillaume Vogt, Yuval Itan, Anna Macura-Biegun, Anna Szaflarska, Ariane Chapgier

Hum Mol Genet· February 2013

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The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.
Diana Averbuch, Ariane Chapgier, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Dan Engelhard

Pediatr Infect Dis J· April 2011

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Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Ithaisa Sologuren, Stéphanie Boisson-Dupuis, Jose Pestano, Quentin Benoit Vincent, Leandro Fernández-Pérez, Ariane Chapgier

Hum Mol Genet· April 2011

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Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Jacinta Bustamante, Andres A Arias, Guillaume Vogt, Capucine Picard, Lizbeth Blancas Galicia, Ariane Chapgier

Nat Immunol· March 2011

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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
Ludovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante, Aurélie Cobat, Stéphanie Boisson-Dupuis, Ariane Chapgier

Medicine (Baltimore)· November 2010

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Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V Grant, Xiao-Fei Kong, Jacinta Bustamante, Ariane Chapgier

Am J Med Genet A· March 2010

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Distinct factors control histone variant H3.3 localization at specific genomic regions.
Aaron D Goldberg, Laura A Banaszynski, Kyung-Min Noh, Peter W Lewis, Simon J Elsaesser, Ariane Chapgier

Cell· March 2010

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Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency.
Maria Grazia Marazzi, Ariane Chapgier, Anna-Carla Defilippi, Vito Pistoia, Sara Mangini

Int J Infect Dis· February 2010

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A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.
Xiao-Fei Kong, Guillaume Vogt, Ariane Chapgier, Christophe Lamaze, Jacinta Bustamante

Hum Mol Genet· February 2010

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Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.
Petra Moilanen, Matti Korppi, Liisa Hovi, Ariane Chapgier, Jacqueline Feinberg

Pediatr Infect Dis J· July 2009

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A partial form of recessive STAT1 deficiency in humans.
Ariane Chapgier, Xiao-Fei Kong, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Diana Averbuch

J Clin Invest· June 2009

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Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.
Shen-Ying Zhang, Stéphanie Boisson-Dupuis, Ariane Chapgier, Kun Yang, Jacinta Bustamante

Immunol Rev· December 2008

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Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
Guillaume Vogt, Jacinta Bustamante, Ariane Chapgier, Jacqueline Feinberg, Stephanie Boisson Dupuis

J Exp Med· August 2008

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Human primary immunodeficiencies of type I interferons.
Emmanuelle Jouanguy, Shen-Ying Zhang, Ariane Chapgier, Vanessa Sancho-Shimizu, Anne Puel

Biochimie· September 2007

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TLR3 deficiency in patients with herpes simplex encephalitis.
Shen-Ying Zhang, Emmanuelle Jouanguy, Sophie Ugolini, Asma Smahi, Gaëlle Elain, Ariane Chapgier

Science· September 2007

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BCG-osis and tuberculosis in a child with chronic granulomatous disease.
Jacinta Bustamante, Guzide Aksu, Guillaume Vogt, Ludovic de Beaucoudrey, Ferah Genel, Ariane Chapgier

J Allergy Clin Immunol· July 2007

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A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.
Jacinta Bustamante, Capucine Picard, Claire Fieschi, Orchidée Filipe-Santos, Jacqueline Feinberg, Ariane Chapgier

J Med Genet· February 2007

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Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Orchidée Filipe-Santos, Jacinta Bustamante, Ariane Chapgier, Guillaume Vogt, Ludovic de Beaucoudrey

Semin Immunol· December 2006

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T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells.
Francesc Miro, Cinzia Nobile, Nicolas Blanchard, Marianne Lind, Orchidée Filipe-Santos, Ariane Chapgier

J Immunol· September 2006

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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
Ariane Chapgier, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Guillaume Vogt, Jacqueline Feinberg

PLoS Genet· August 2006

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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Orchidée Filipe-Santos, Jacinta Bustamante, Margje H Haverkamp, Emilie Vinolo, Cheng-Lung Ku, Ariane Chapgier

J Exp Med· July 2006

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