Evaluation of angiotensin-converting enzyme (ACE), its homologue ACE2 and neprilysin in angiotensin peptide metabolism

Por Rice, Gillian I., Thomas, Daniel A., Grant, Peter J., Turner, Anthony J., Hooper, Nigel M.
Publicado em 2004

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 em 2014

Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

Por Takanohashi, Asako, Prust, Morgan, Wang, Jichuan, Gordish-Dressman, Heather, Bloom, Miriam, Rice, Gillian I., Schmidt, Johanna L., Crow, Yanick J., Lebon, Pierre, Kuijpers, Taco W., Nagaraju, Kanneboyina, Vanderver, Adeline
Publicado em 2013

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 no PLoS One (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 no J Clin Immunol (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 em 2010

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Por Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.
Publicado no Am J Hum Genet (2015)

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 em 2014

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

Por Jeremiah, Nadia, Neven, Bénédicte, Gentili, Matteo, Callebaut, Isabelle, Maschalidi, Sophia, Stolzenberg, Marie-Claude, Goudin, Nicolas, Frémond, Marie-Louis, Nitschke, Patrick, Molina, Thierry J., Blanche, Stéphane, Picard, Capucine, Rice, Gillian I., Crow, Yanick J., Manel, Nicolas, Fischer, Alain, Bader-Meunier, Brigitte, Rieux-Laucat, Frédéric
Publicado no J Clin Invest (2014)

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome

Por Rice, Gillian I., Reijns, Martin A.M., Coffin, Stephanie R., Forte, Gabriella M.A., Anderson, Beverley H., Szynkiewicz, Marcin, Gornall, Hannah, Gent, David, Leitch, Andrea, Botella, Maria P., Fazzi, Elisa, Gener, Blanca, Lagae, Lieven, Olivieri, Ivana, Orcesi, Simona, Swoboda, Kathryn J., Perrino, Fred W., Jackson, Andrew P., Crow, Yanick J.
Publicado em 2013

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Por Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.
Publicado em 2011

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 no J Clin Immunol (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 no J Clin Immunol (2016)

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell–Defective Apoptosis and Hyperproliferation

Por Belot, Alexandre, Kasher, Paul R., Trotter, Eleanor W., Foray, Anne-Perrine, Debaud, Anne-Laure, Rice, Gillian I., Szynkiewicz, Marcin, Zabot, Marie-Therese, Rouvet, Isabelle, Bhaskar, Sanjeev S., Daly, Sarah B., Dickerson, Jonathan E., Mayer, Josephine, O’Sullivan, James, Juillard, Laurent, Urquhart, Jill E., Fawdar, Shameem, Marusiak, Anna A., Stephenson, Natalie, Waszkowycz, Bohdan, Beresford, Michael W., Biesecker, Leslie G., Black, Graeme C. M., René, Céline, Eliaou, Jean-François, Fabien, Nicole, Ranchin, Bruno, Cochat, Pierre, Gaffney, Patrick M., Rozenberg, Flore, Lebon, Pierre, Malcus, Christophe, Crow, Yanick J., Brognard, John, Bonnefoy, Nathalie
Publicado em 2013

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

Por Zhang, Xianqin, Bogunovic, Dusan, Payelle-Brogard, Béatrice, Francois-Newton, Véronique, Speer, Scott D., Yuan, Chao, Volpi, Stefano, Li, Zhi, Sanal, Ozden, Mansouri, Davood, Tezcan, Ilhan, Rice, Gillian I., Chen, Chunyuan, Mansouri, Nahal, Alireza Mahdaviani, Seyed, Itan, Yuval, Boisson, Bertrand, Okada, Satoshi, Zeng, Lu, Wang, Xing, Jiang, Hui, Liu, Wenqiang, Han, Tiantian, Liu, Delin, Ma, Tao, Wang, Bo, Liu, Mugen, Liu, Jing-Yu, Wang, Qing K., Yalnizoglu, Dilek, Radoshevich, Lilliana, Uzé, Gilles, Gros, Philippe, Rozenberg, Flore, Zhang, Shen-Ying, Jouanguy, Emmanuelle, Bustamante, Jacinta, Garcìa-Sastre, Adolfo, Abel, Laurent, Lebon, Pierre, Notarangelo, Luigi D., Crow, Yanick J., Boisson-Dupuis, Stèphanie, Casanova, Jean-Laurent, Pellegrini, Sandra
Publicado no Nature (2014)

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

Por Mathieu, Anne-Laure, Verronese, Estelle, Rice, Gillian I., Fouyssac, Fanny, Bertrand, Yves, Picard, Capucine, Chansel, Marie, Walter, Jolan E., Notarangelo, Luigi D., Butte, Manish J., Nadeau, Kari Christine, Csomos, Krisztian, Chen, David J., Chen, Karin, Delgado, Ana, Rigal, Chantal, Bardin, Christine, Schuetz, Catharina, Moshous, Despina, Reumaux, Héloïse, Plenat, François, Phan, Alice, Zabot, Marie-Thérèse, Balme, Brigitte, Viel, Sébastien, Bienvenu, Jacques, Cochat, Pierre, van der Burg, Mirjam, Caux, Christophe, Kemp, E. Helen, Rouvet, Isabelle, Malcus, Christophe, Méritet, Jean-Francois, Lim, Annick, Crow, Yanick J., Fabien, Nicole, Ménétrier-Caux, Christine, De Villartay, Jean-Pierre, Walzer, Thierry, Belot, Alexandre
Publicado no J Allergy Clin Immunol (2015)

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Por Rice, Gillian I, Bond, Jacquelyn, Asipu, Aruna, Brunette, Rebecca L, Manfield, Iain W, Carr, Ian M, Fuller, Jonathan C, Jackson, Richard M, Lamb, Teresa, Briggs, Tracy A, Ali, Manir, Gornall, Hannah, Couthard, Lydia R, Aeby, Alec, Attard-Montalto, Simon P, Bertini, Enrico, Bodemer, Christine, Brockmann, Knut, Brueton, Louise A, Corry, Peter C, Desguerre, Isabelle, Fazzi, Elisa, Cazorla, Angels Garcia, Gener, Blanca, Hamel, Ben C J, Heiberg, Arvid, Hunter, Matthew, van der Knaap, Marjo S, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenco, Charles M, Marom, Daphna, McDermott, Michael F, van der Merwe, William, Orcesi, Simona, Prendiville, Julie S, Rasmussen, Magnhild, Shalev, Stavit A, Soler, Doriette M, Shinawi, Marwan, Spiegel, Ronen, Tan, Tiong Y, Vanderver, Adeline, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Lebon, Pierre, Stetson, Daniel B, Bonthron, David T, Crow, Yanick J
Publicado em 2009

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Por Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella MA, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno JV, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O’Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J
Publicado em 2014

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Por Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, Laet, Corinne De, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O’Connell, Mary A, Lovell, Simon C, Crow, Yanick J
Publicado em 2012

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Por Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J
Publicado no Lancet Neurol (2013)