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Journal Articles

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity

Najiba Alioua, Nathalie Lambert, Mathilde Puel, Sylvain Hanein, Paul Bastard, Mathieu Fusaro, Marie Jaffray, Bernardita Medel, Lydia Khellaf, Yoann Seeleuthner, Mélodie Perin, Corinne Jacques, Marlène Pasquet, Laura Olivier, Fernando Sepulveda, Tom Le Voyer, Aurélie Cobat, Patrick Nitschké, Lionel Galicier, Nicolas Schleinitz, Eric Oksenhendler, Marion Malphettes, Bénédicte Neven, Despina Moshous, Felipe Suarez, Claire Fieschi, Jean-Laurent Casanova, Geneviève de Saint Basile, Guillaume Dorval, Capucine Picard, Jacinta Bustamante, Peng Zhang, Jérémie Rosain
Journal: Journal of Human Immunity
J Hum Immun (2025) 1 (3): e20250041.
https://doi.org/10.70962/jhi.20250041
Published: 17 July 2025
View article titled, Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity
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Includes: Supplementary data
Journal Articles

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

Isabelle Munoz, Luca Danelli, Julien Claver, Nicolas Goudin, Mathieu Kurowska, Iris Karina Madera-Salcedo, Jian-Dong Huang, Alain Fischer, Claudia González-Espinosa, Geneviéve de Saint Basile, Ulrich Blank, Gaël Ménasché
Journal: Journal of Cell Biology
J Cell Biol (2016) 215 (2): 203–216.
https://doi.org/10.1083/jcb.201605073
Published: 24 October 2016
View article titled, Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex
Open the PDF for Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex in another window
Includes: Supplementary data
Journal Articles

Rab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphate

Pehuén Pereyra Gerber, Mercedes Cabrini, Carolina Jancic, Luciana Paoletti, Claudia Banchio, Catalina von Bilderling, Lorena Sigaut, Lía I. Pietrasanta, Gabriel Duette, Eric O. Freed, Genevieve de Saint Basile, Catarina Ferreira Moita, Luis Ferreira Moita, Sebastian Amigorena, Philippe Benaroch, Jorge Geffner, Matías Ostrowski
Journal: Journal of Cell Biology
J Cell Biol (2015) 209 (3): 435–452.
https://doi.org/10.1083/jcb.201409082
Published: 04 May 2015
View article titled, Rab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphate
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Includes: Supplementary data
Journal Articles

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschke, Christine Bole-Feysot, Laurence Legeai-Mallet, Annick Lim, Jean-Pierre de Villartay, Capucine Picard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile
Journal: Journal of Experimental Medicine
J Exp Med (2012) 209 (13): 2323–2330.
https://doi.org/10.1084/jem.20121303
Published: 10 December 2012
View article titled, Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)
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Includes: Supplementary data
Journal Articles

Rab27a: A Key to Melanosome Transport in Human Melanocytes

Philippe Bahadoran, Edith Aberdam, Frédéric Mantoux, Roser Buscà, Karine Bille, Nevin Yalman, Geneviève de Saint-Basile, Ricardo Casaroli-Marano, Jean-Paul Ortonne, Robert Ballotti
Journal: Journal of Cell Biology
J Cell Biol (2001) 152 (4): 843–850.
https://doi.org/10.1083/jcb.152.4.843
Published: 20 February 2001
View article titled, Rab27a: A Key to Melanosome Transport in Human Melanocytes
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Journal Articles

Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: the Chediak-Higashi Syndrome

Wolfgang Faigle, Graça Raposo, Daniele Tenza, Valérie Pinet, Anne B. Vogt, Harald Kropshofer, Alain Fischer, Geneviève de Saint-Basile, Sebastian Amigorena
Journal: Journal of Cell Biology
J Cell Biol (1998) 141 (5): 1121–1134.
https://doi.org/10.1083/jcb.141.5.1121
Published: 01 June 1998
View article titled, Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: the Chediak-Higashi Syndrome
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