Rab27a: A key to melanosome transport in human melanocytesSecretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cellsA newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretionSevere combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Cytotoxic granule secretion by lymphocytes and its link to immune homeostasisRab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphateXIAP deficiency in humans causes an X-linked lymphoproliferative syndromeMunc13-4 regulates granule secretion in human neutrophilsX-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) geneMutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndromeTTC7A mutations disrupt intestinal epithelial apicobasal polarity.Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.EBAG9 tempers lymphocyte killing activity.Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients.Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.Perforin gene defects in familial hemophagocytic lymphohistiocytosis.Two genes are responsible for Griscelli syndrome at the same 15q21 locus.Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiencyBone marrow cells in X-linked agammaglobulinemia express pre-B-specific genes (lambda-like and V pre-B) and present immunoglobulin V-D-J gene usage strongly biased to a fetal-like repertoire.Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.Gene therapy of severe combined immunodeficiencies.The role of cytotoxicity in lymphocyte homeostasis.Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis.Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCIDMunc13-4*rab27 complex tethers secretory lysosomes at the plasma membrane.Severe combined immunodeficiency. A model disease for molecular immunology and therapy.Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient miceCD3 deficiencies.
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P50
description
researcher ORCID ID = 0000-0002-1913-5269
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wetenschapper
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name
Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
@nl
Geneviève de Saint Basile
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type
label
Geneviève de Saint Basile
@ast
Geneviève de Saint Basile
@en
Geneviève de Saint Basile
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Geneviève de Saint Basile
@fr
Geneviève de Saint Basile
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Geneviève de Saint Basile
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altLabel
Geneviève Gaultier de Saint-Basile
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Geneviève de Saint Basile-Chazelas
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prefLabel
Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
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Geneviève de Saint Basile
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P735
P214
P106
P1477
Geneviève Marie Madeleine Gaultier de Saint-Basile
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P21
P214
P31
P496
0000-0002-1913-5269
P569
2000-01-01T00:00:00Z
P7859
viaf-207070087