The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

por Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Publicado 2014

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD

por Ibrahim, Sara T., Chinnadurai, Rajkumar, Ali, Ibrahim, Payne, Debbie, Rice, Gillian I., Newman, William G., Algohary, Eman, Adam, Ahmed G., Kalra, Philip A.
Publicado 2020

Combination of exome sequencing and immune testing confirms Aicardi–Goutières syndrome type 5 in a challenging pediatric neurology case

por Haskell, Gloria T., Mori, Mari, Powell, Cynthia, Amrhein, Timothy J., Rice, Gillian I., Bailey, Lauren, Strande, Natasha, Weck, Karen E., Evans, James P., Berg, Jonathan S., Kishnani, Priya
Publicado 2018

ADAR1 Facilitates HIV-1 Replication in Primary CD4(+) T Cells

por Cuadrado, Eloy, Booiman, Thijs, van Hamme, John L., Jansen, Machiel H., van Dort, Karel A., Vanderver, Adeline, Rice, Gillian I., Crow, Yanick J., Kootstra, Neeltje A., Kuijpers, Taco W.
Publicado 2015

Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

por Rice, Gillian I., Melki, Isabelle, Frémond, Marie-Louise, Briggs, Tracy A., Rodero, Mathieu P., Kitabayashi, Naoki, Oojageer, Anthony, Bader-Meunier, Brigitte, Belot, Alexandre, Bodemer, Christine, Quartier, Pierre, Crow, Yanick J.
Publicado 2016

Neprilysin, obesity and the metabolic syndrome

por Standeven, Kristina F., Hess, Katharina, Carter, Angela M., Rice, Gillian I., Cordell, Paul A., Balmforth, Anthony J., Lu, Bao, Scott, D. Julian, Turner, Anthony J., Hooper, Nigel M., Grant, Peter J.
Publicado 2010

Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome

por Withers, Sarah E., Rowlands, Charlie F., Tapia, Victor S., Hedley, Frances, Mosneag, Ioana-Emilia, Crilly, Siobhan, Rice, Gillian I., Badrock, Andrew P., Hayes, Andrew, Allan, Stuart M., Briggs, Tracy A., Kasher, Paul R.
Publicado 2023

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

por Gratia, Matthieu, Rodero, Mathieu P., Conrad, Cécile, Bou Samra, Elias, Maurin, Mathieu, Rice, Gillian I., Duffy, Darragh, Revy, Patrick, Petit, Florence, Dale, Russell C., Crow, Yanick J., Amor-Gueret, Mounira, Manel, Nicolas
Publicado 2019

Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants

por Tucker, Lori B., Lamot, Lovro, Niemietz, Iwona, Chung, Brian K., Cabral, David A., Houghton, Kristin, Petty, Ross E., Morishita, Kimberly A., Rice, Gillian I., Turvey, Stuart E., Gibson, William T., Brown, Kelly L.
Publicado 2019

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

por Zhu, Gaofeng, Badonyi, Mihaly, Franklin, Lina, Seabra, Luis, Rice, Gillian I., Anne-Boland-Auge, Deleuze, Jean-François, El-Chehadeh, Salima, Anheim, Mathieu, de Saint-Martin, Anne, Pellegrini, Sandra, Marsh, Joseph A., Crow, Yanick J., El-Daher, Marie-Therese
Publicado 2023

Type I interferon in patients with systemic autoimmune rheumatic disease is associated with haematological abnormalities and specific autoantibody profiles

por Reynolds, John A., Briggs, Tracy A., Rice, Gillian I., Darmalinggam, Sathya, Bondet, Vincent, Bruce, Ellen, Khan, Mumtaz, Haque, Sahena, Chinoy, Hector, Herrick, Ariane L., McCarthy, Eoghan M., Zeef, Leo, Hayes, Andrew, Duffy, Darragh, Parker, Ben, Bruce, Ian N.
Publicado 2019

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

por Belot, Alexandre, Wassmer, Evangeline, Twilt, Marinka, Lega, Jean-Christophe, Zeef, Leo AH, Oojageer, Anthony, Kasher, Paul R, Mathieu, Anne-Laure, Malcus, Christophe, Demaret, Julie, Fabien, Nicole, Collardeau-Frachon, Sophie, Mechtouff, Laura, Derex, Laurent, Walzer, Thierry, Rice, Gillian I, Durieu, Isabelle, Crow, Yanick J
Publicado 2014

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

por Smith, Colin, McColl, Barry W., Patir, Anirudh, Barrington, Jack, Armishaw, Jeremy, Clarke, Antonia, Eaton, Jenny, Hobbs, Vivienne, Mansour, Sahar, Nolan, Melinda, Rice, Gillian I., Rodero, Mathieu P., Seabra, Luis, Uggenti, Carolina, Livingston, John H., Bridges, Leslie R., Jeffrey, Iona J. M., Crow, Yanick J.
Publicado 2020

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement

por Naesens, Leslie, Nemegeer, Josephine, Roelens, Filip, Vallaeys, Lore, Meuwissen, Marije, Janssens, Katrien, Verloo, Patrick, Ogunjimi, Benson, Hemelsoet, Dimitri, Hoste, Levi, Roels, Lisa, De Bruyne, Marieke, De Baere, Elfride, Van Dorpe, Jo, Dendooven, Amélie, Sieben, Anne, Rice, Gillian I., Kerre, Tessa, Beyaert, Rudi, Uggenti, Carolina, Crow, Yanick J., Tavernier, Simon J., Maelfait, Jonathan, Haerynck, Filomeen
Publicado 2022

Differential levels of IFNα subtypes in autoimmunity and viral infection

por Bondet, Vincent, Rodero, Mathieu P., Posseme, Céline, Bost, Pierre, Decalf, Jérémie, Haljasmägi, Liis, Bekaddour, Nassima, Rice, Gillian I., Upasani, Vinit, Herbeuval, Jean-Philippe, Reynolds, John A., Briggs, Tracy A., Bruce, Ian N., Mauri, Claudia, Isenberg, David, Menon, Madhvi, Hunt, David, Schwikowski, Benno, Mariette, Xavier, Pol, Stanislas, Rozenberg, Flore, Cantaert, Tineke, Gottenberg, J. Eric, Kisand, Kai, Duffy, Darragh
Publicado 2021

Systemic inflammatory syndrome in children with FARSA deficiency

por Charbit‐Henrion, Fabienne, Goguyer‐Deschaumes, Roman, Borensztajn, Keren, Mirande, Marc, Berthelet, Jérémy, Rodrigues‐Lima, Fernando, Khiat, Anis, Frémond, Marie‐Louise, Bader‐Meunier, Brigitte, Rodari, Marco M., Seabra, Luis, Rice, Gillian I., Legendre, Marie, Drummond, David, Berteloot, Laureline, Roux, Charles‐Joris, Boddaert, Nathalie, Drabent, Philippe, Molina, Thierry Jo, Lacaille, Florence, Kossorotoff, Manoelle, Cerf‐Bensussan, Nadine, Parlato, Marianna, Hadchouel, Alice
Publicado 2022

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

por Omarjee, Ommar, Mathieu, Anne-Laure, Quiniou, Gaëlle, Moreews, Marion, Ainouze, Michelle, Frachette, Cécile, Melki, Isabelle, Dumaine, Cécile, Gerfaud-Valentin, Mathieu, Duquesne, Agnès, Kallinich, Tilmann, Tahir Turanli, Eda, Malcus, Christophe, Viel, Sébastien, Pescarmona, Rémi, Georgin-Lavialle, Sophie, Jamilloux, Yvan, Larbre, Jean-Paul, Sarrabay, Guillaume, Magnotti, Flora, Rice, Gillian I., Bleicher, Francoise, Reboulet, Jonathan, Merabet, Samir, Henry, Thomas, Crow, Yanick J., Faure, Mathias, Walzer, Thierry, Belot, Alexandre
Publicado 2021

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

por Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2016

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

por Briggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2016

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

por Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I., Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P., Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A., Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A., McMillan, Hugh J., Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2021