Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine

por Talbot, Jonathan, Wiskin, Anthony E., Monaghan, Marie, Goenka, Anu, Rice, Gillian, Roderick, Marion
Publicado 2022

OA30 Genetic analysis of whole exome sequencing in a cohort of children with refractory JIA reveals genetic risk factors for rare juvenile diseases

por Tordoff, Melissa, Smith, Samantha, Rice, Gillian, Wedderburn, Lucy, Hyrich, Kimme, Morris, Andrew, Briggs, Tracy, Thomson, Wendy, Eyre, Stephen, Bowes, John
Publicado 2022

SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells

por Descours, Benjamin, Cribier, Alexandra, Chable-Bessia, Christine, Ayinde, Diana, Rice, Gillian, Crow, Yanick, Yatim, Ahmad, Schwartz, Olivier, Laguette, Nadine, Benkirane, Monsef
Publicado 2012

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

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

por Rowlands, Charlie F., Taylor, Algy, Rice, Gillian, Whiffin, Nicola, Hall, Hildegard Nikki, Newman, William G., Black, Graeme C.M., O’Keefe, Raymond T., Hubbard, Simon, Douglas, Andrew G.L., Baralle, Diana, Briggs, Tracy A., Ellingford, Jamie M.
Publicado 2022

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

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity

por Belot, Alexandre, Mathieu, Anne-Laure, Veronese, Estelle, Rice, Gillian, Fouyssac, Fanny, Bertrand, Yves, Picard, Capucine, Walter, Jolan, Notarangelo, Luigi, Schuetz, Catharina, Reumaux, Heloise, Van Der Burg, Mirjam, Kemp, Helen, Rouvet, Isabelle, Malcus, Christophe, Fabien, Nicole, Crow, Yanick, Menetrier-Caux, Christine, De Villartay, Jean-Pierre, Walzer, Thierry
Publicado 2014

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis

por Galli, Jessica, Gavazzi, Francesco, De Simone, Micaela, Giliani, Silvia, Garau, Jessica, Valente, Marialuisa, Vairo, Donatella, Cattalini, Marco, Mortilla, Marzia, Andreoli, (Laura, Badolato, Raffaele, Bianchi, Marika, Carabellese, Nice, Cereda, Cristina, Ferraro, Rosalba, Facchetti, Fabio, Fredi, Micaela, Gualdi, Giulio, Lorenzi, Luisa, Meini, Antonella, Orcesi, Simona, Tincani, Angela, Zanola, Alessandra, Rice, Gillian, Fazzi, Elisa
Publicado 2018

Biodiversity of protists and nematodes in the wild nonhuman primate gut

por Mann, Allison E., Mazel, Florent, Lemay, Matthew A., Morien, Evan, Billy, Vincent, Kowalewski, Martin, Di Fiore, Anthony, Link, Andrés, Goldberg, Tony L., Tecot, Stacey, Baden, Andrea L., Gomez, Andres, Sauther, Michelle L., Cuozzo, Frank P., Rice, Gillian A. O., Dominy, Nathaniel J., Stumpf, Rebecca, Lewis, Rebecca J., Swedell, Larissa, Amato, Katherine, Wegener Parfrey, Laura
Publicado 2019