about
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesHIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3Distinct factors control histone variant H3.3 localization at specific genomic regionsA novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.A partial form of recessive STAT1 deficiency in humans.Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.Autosomal-dominant primary immunodeficiencies.X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.Human primary immunodeficiencies of type I interferons.Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.Hira-dependent histone H3.3 deposition facilitates PRC2 recruitment at developmental loci in ES cells.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.TLR3 deficiency in patients with herpes simplex encephalitis.Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells.[Gains of glycosylation mutations].Disseminated Mycobacterium scrofulaceum infection in a child with interferon-gamma receptor 1 deficiency.Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.Successful hematopoietic stem cell transplantation from an unrelated donor in a child with interferon gamma receptor deficiency.The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiencyInfections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor DeficiencyBCG-osis and tuberculosis in a child with chronic granulomatous diseaseInfection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical françaisDisseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiencyPrédisposition génétique et infections de l'enfantSuccessful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiencyBacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytesHIRA directly targets the enhancers of selected cardiac transcription factors during in vitro differentiation of mouse embryonic stem cells
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Ariane Chapgier
@ast
Ariane Chapgier
@en
Ariane Chapgier
@es
Ariane Chapgier
@nl
Ariane Chapgier
@sl
type
label
Ariane Chapgier
@ast
Ariane Chapgier
@en
Ariane Chapgier
@es
Ariane Chapgier
@nl
Ariane Chapgier
@sl
prefLabel
Ariane Chapgier
@ast
Ariane Chapgier
@en
Ariane Chapgier
@es
Ariane Chapgier
@nl
Ariane Chapgier
@sl
P106
P21
P31
P496
0000-0002-1734-0744