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Your search keyword '"Rice, Gillian I"' showing total 6 results
Start Over Author "Rice, Gillian I" Journal journal of experimental medicine
6 results on '"Rice, Gillian I"'

1. Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

Author

Lepelley, Alice, primary, Della Mina, Erika, additional, Van Nieuwenhove, Erika, additional, Waumans, Lise, additional, Fraitag, Sylvie, additional, Rice, Gillian I., additional, Dhir, Ashish, additional, Frémond, Marie-Louise, additional, Rodero, Mathieu P., additional, Seabra, Luis, additional, Carter, Edwin, additional, Bodemer, Christine, additional, Buhas, Daniela, additional, Callewaert, Bert, additional, de Lonlay, Pascale, additional, De Somer, Lien, additional, Dyment, David A., additional, Faes, Fran, additional, Grove, Lucy, additional, Holden, Simon, additional, Hully, Marie, additional, Kurian, Manju A., additional, McMillan, Hugh J., additional, Suetens, Kristin, additional, Tyynismaa, Henna, additional, Chhun, Stéphanie, additional, Wai, Timothy, additional, Wouters, Carine, additional, Bader-Meunier, Brigitte, additional, and Crow, Yanick J., additional

Published
2021
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2. LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

Author

Omarjee, Ommar, primary, Mathieu, Anne-Laure, additional, Quiniou, Gaëlle, additional, Moreews, Marion, additional, Ainouze, Michelle, additional, Frachette, Cécile, additional, Melki, Isabelle, additional, Dumaine, Cécile, additional, Gerfaud-Valentin, Mathieu, additional, Duquesne, Agnès, additional, Kallinich, Tilmann, additional, Tahir Turanli, Eda, additional, Malcus, Christophe, additional, Viel, Sébastien, additional, Pescarmona, Rémi, additional, Georgin-Lavialle, Sophie, additional, Jamilloux, Yvan, additional, Larbre, Jean-Paul, additional, Sarrabay, Guillaume, additional, Magnotti, Flora, additional, Rice, Gillian I., additional, Bleicher, Francoise, additional, Reboulet, Jonathan, additional, Merabet, Samir, additional, Henry, Thomas, additional, Crow, Yanick J., additional, Faure, Mathias, additional, Walzer, Thierry, additional, and Belot, Alexandre, additional

Published
2021
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3. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

Author

Lepelley, Alice, primary, Martin-Niclós, Maria José, additional, Le Bihan, Melvin, additional, Marsh, Joseph A., additional, Uggenti, Carolina, additional, Rice, Gillian I., additional, Bondet, Vincent, additional, Duffy, Darragh, additional, Hertzog, Jonny, additional, Rehwinkel, Jan, additional, Amselem, Serge, additional, Boulisfane-El Khalifi, Siham, additional, Brennan, Mary, additional, Carter, Edwin, additional, Chatenoud, Lucienne, additional, Chhun, Stéphanie, additional, Coulomb l’Hermine, Aurore, additional, Depp, Marine, additional, Legendre, Marie, additional, Mackenzie, Karen J., additional, Marey, Jonathan, additional, McDougall, Catherine, additional, McKenzie, Kathryn J., additional, Molina, Thierry Jo, additional, Neven, Bénédicte, additional, Seabra, Luis, additional, Thumerelle, Caroline, additional, Wislez, Marie, additional, Nathan, Nadia, additional, Manel, Nicolas, additional, Crow, Yanick J., additional, and Frémond, Marie-Louise, additional

Published
2020
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4. Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Author

Gratia, Matthieu, primary, Rodero, Mathieu P., additional, Conrad, Cécile, additional, Bou Samra, Elias, additional, Maurin, Mathieu, additional, Rice, Gillian I., additional, Duffy, Darragh, additional, Revy, Patrick, additional, Petit, Florence, additional, Dale, Russell C., additional, Crow, Yanick J., additional, Amor-Gueret, Mounira, additional, and Manel, Nicolas, additional

Published
2019
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5. Detection of interferon alpha protein reveals differential levels and cellular sources in disease

Author

Rodero, Mathieu P., primary, Decalf, Jérémie, additional, Bondet, Vincent, additional, Hunt, David, additional, Rice, Gillian I., additional, Werneke, Scott, additional, McGlasson, Sarah L., additional, Alyanakian, Marie-Alexandra, additional, Bader-Meunier, Brigitte, additional, Barnerias, Christine, additional, Bellon, Nathalia, additional, Belot, Alexandre, additional, Bodemer, Christine, additional, Briggs, Tracy A., additional, Desguerre, Isabelle, additional, Frémond, Marie-Louise, additional, Hully, Marie, additional, van den Maagdenberg, Arn M.J.M., additional, Melki, Isabelle, additional, Meyts, Isabelle, additional, Musset, Lucile, additional, Pelzer, Nadine, additional, Quartier, Pierre, additional, Terwindt, Gisela M., additional, Wardlaw, Joanna, additional, Wiseman, Stewart, additional, Rieux-Laucat, Frédéric, additional, Rose, Yoann, additional, Neven, Bénédicte, additional, Hertel, Christina, additional, Hayday, Adrian, additional, Albert, Matthew L., additional, Rozenberg, Flore, additional, Crow, Yanick J., additional, and Duffy, Darragh, additional

Published
2017
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6. Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus.

Author

David C, Arango-Franco CA, Badonyi M, Fouchet J, Rice GI, Didry-Barca B, Maisonneuve L, Seabra L, Kechiche R, Masson C, Cobat A, Abel L, Talouarn E, Béziat V, Deswarte C, Livingstone K, Paul C, Malik G, Ross A, Adam J, Walsh J, Kumar S, Bonnet D, Bodemer C, Bader-Meunier B, Marsh JA, Casanova JL, Crow YJ, Manoury B, Frémond ML, Bohlen J, and Lepelley A

Subjects
Female, Humans, Male, Gain of Function Mutation, HEK293 Cells, Lupus Erythematosus, Cutaneous genetics, Lupus Erythematosus, Cutaneous pathology, Membrane Transport Proteins genetics, Membrane Transport Proteins metabolism, Mutation, Missense, Pedigree, Toll-Like Receptor 8 genetics, Toll-Like Receptor 8 metabolism, Child, Preschool, Child, Young Adult, Adult, Chilblains genetics, Lupus Erythematosus, Systemic genetics, Toll-Like Receptor 7 genetics, Toll-Like Receptor 7 metabolism
Abstract

UNC93B1 is a transmembrane domain protein mediating the signaling of endosomal Toll-like receptors (TLRs). We report five families harboring rare missense substitutions (I317M, G325C, L330R, R466S, and R525P) in UNC93B1 causing systemic lupus erythematosus (SLE) or chilblain lupus (CBL) as either autosomal dominant or autosomal recessive traits. As for a D34A mutation causing murine lupus, we recorded a gain of TLR7 and, to a lesser extent, TLR8 activity with the I317M (in vitro) and G325C (in vitro and ex vivo) variants in the context of SLE. Contrastingly, in three families segregating CBL, the L330R, R466S, and R525P variants were isomorphic with respect to TLR7 activity in vitro and, for R525P, ex vivo. Rather, these variants demonstrated a gain of TLR8 activity. We observed enhanced interaction of the G325C, L330R, and R466S variants with TLR8, but not the R525P substitution, indicating different disease mechanisms. Overall, these observations suggest that UNC93B1 mutations cause monogenic SLE or CBL due to differentially enhanced TLR7 and TLR8 signaling., (© 2024 David et al.)

Published
2024
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