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1.

Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Uggenti, Carolina; Lepelley, Alice; Crow, Yanick J.

Annu Rev Immunol ; 37: 247-267, 2019 04 26.

Artículo en Inglés | MEDLINE | ID: mdl-30633609

2.

Sort Your Self Out!

Uggenti, Carolina; Crow, Yanick J.

Cell ; 172(4): 640-642, 2018 02 08.

Artículo en Inglés | MEDLINE | ID: mdl-29425484

3.

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Parry, David A; Tamayo-Orrego, Lukas; Carroll, Paula; Marsh, Joseph A; Greene, Philip; Murina, Olga; Uggenti, Carolina; Leitch, Andrea; Káposzta, Rita; Mero, Gabriella; Nagy, Andrea; Orlik, Brigitta; Kovács-Pászthy, Balázs; Quigley, Alan J; Riszter, Magdolna; Rankin, Julia; Reijns, Martin A M; Szakszon, Katalin; Jackson, Andrew P.

Genes Dev ; 34(21-22): 1520-1533, 2020 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-33060134

4.

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.

Badrock, Andrew P; Uggenti, Carolina; Wacheul, Ludivine; Crilly, Siobhan; Jenkinson, Emma M; Rice, Gillian I; Kasher, Paul R; Lafontaine, Denis L J; Crow, Yanick J; O'Keefe, Raymond T.

Am J Hum Genet ; 106(5): 694-706, 2020 05 07.

Artículo en Inglés | MEDLINE | ID: mdl-32359472

5.

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.

Reijns, Martin A M; Thompson, Louise; Acosta, Juan Carlos; Black, Holly A; Sanchez-Luque, Francisco J; Diamond, Austin; Parry, David A; Daniels, Alison; O'Shea, Marie; Uggenti, Carolina; Sanchez, Maria C; O'Callaghan, Alan; McNab, Michelle L L; Adamowicz, Martyna; Friman, Elias T; Hurd, Toby; Jarman, Edward J; Chee, Frederic Li Mow; Rainger, Jacqueline K; Walker, Marion; Drake, Camilla; Longman, Dasa; Mordstein, Christine; Warlow, Sophie J; McKay, Stewart; Slater, Louise; Ansari, Morad; Tomlinson, Ian P M; Moore, David; Wilkinson, Nadine; Shepherd, Jill; Templeton, Kate; Johannessen, Ingolfur; Tait-Burkard, Christine; Haas, Jürgen G; Gilbert, Nick; Adams, Ian R; Jackson, Andrew P.

PLoS Biol ; 18(12): e3001030, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-33320856

6.

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.

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.

J Clin Immunol ; 42(5): 962-974, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35320431

7.

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.

Melki, Isabelle; Devilliers, Hervé; Gitiaux, Cyril; Bondet, Vincent; Duffy, Darragh; Charuel, Jean-Luc; Miyara, Makoto; Bokov, Plamen; Kheniche, Ahmed; Kwon, Theresa; Authier, François Jérôme; Allenbach, Yves; Belot, Alexandre; Bodemer, Christine; Bourrat, Emmanuelle; Dumaine, Cécile; Fabien, Nicole; Faye, Albert; Frémond, Marie-Louise; Hadchouel, Alice; Kitabayashi, Naoki; Lepelley, Alice; Martin-Niclos, Maria José; Mudumba, Sasi; Musset, Lucile; Quartier, Pierre; Rice, Gillian I; Seabra, Luis; Uettwiller, Florence; Uggenti, Carolina; Viel, Sebastien; Rodero, Mathieu P; Crow, Yanick J; Bader-Meunier, Brigitte.

Rheumatology (Oxford) ; 59(8): 1927-1937, 2020 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-31755959

8.

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Ruaud, Lyse; Rice, Gillian I; Cabrol, Christelle; Piard, Juliette; Rodero, Mathieu; van Eyk, Lien; Boucher-Brischoux, Elise; de Noordhout, Alain Maertens; Maré, Ricardo; Scalais, Emmanuel; Pauly, Fernand; Debray, François-Guillaume; Dobyns, William; Uggenti, Carolina; Park, Ji Woo; Hur, Sun; Livingston, John H; Crow, Yanick J; Van Maldergem, Lionel.

Hum Mutat ; 39(8): 1076-1080, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29782060

9.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki, Isabelle; Rose, Yoann; Uggenti, Carolina; Van Eyck, Lien; Frémond, Marie-Louise; Kitabayashi, Naoki; Rice, Gillian I; Jenkinson, Emma M; Boulai, Anaïs; Jeremiah, Nadia; Gattorno, Marco; Volpi, Stefano; Sacco, Olivero; Terheggen-Lagro, Suzanne W J; Tiddens, Harm A W M; Meyts, Isabelle; Morren, Marie-Anne; De Haes, Petra; Wouters, Carine; Legius, Eric; Corveleyn, Anniek; Rieux-Laucat, Frederic; Bodemer, Christine; Callebaut, Isabelle; Rodero, Mathieu P; Crow, Yanick J.

J Allergy Clin Immunol ; 140(2): 543-552.e5, 2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28087229

10.

The Plasma Membrane Calcium Pump in Pancreatic Cancer Cells Exhibiting the Warburg Effect Relies on Glycolytic ATP.

James, Andrew D; Patel, Waseema; Butt, Zohra; Adiamah, Magretta; Dakhel, Raga; Latif, Ayse; Uggenti, Carolina; Swanton, Eileithyia; Imamura, Hiromi; Siriwardena, Ajith K; Bruce, Jason I E.

J Biol Chem ; 290(41): 24760-71, 2015 Oct 09.

Artículo en Inglés | MEDLINE | ID: mdl-26294767

11.

Reverse-Transcriptase Inhibitors in the AicardiGoutières Syndrome

Rice, Gillian I; Meyzer, Candice; Bouazza, Naïm; Hully, Marie; Boddaert, Nathalie; Semeraro, Michaela; Zeef, Leo A H; Rozenberg, Flore; Bondet, Vincent; Duffy, Darragh; Llibre, Alba; Baek, Jinmi; Sambe, Mame N; Henry, Elodie; Jolaine, Valerie; Barnerias, Christine; Barth, Magalie; Belot, Alexandre; Cances, Claude; Debray, François-Guillaume; Doummar, Diane; Frémond, Marie-Louise; Kitabayashi, Naoki; Lepelley, Alice; Levrat, Virginie; Melki, Isabelle; Meyer, Pierre; Nougues, Marie-Christine; Renaldo, Florence; Rodero, Mathieu P; Rodriguez, Diana; Roubertie, Agathe; Seabra, Luis; Uggenti, Carolina; Abdoul, Hendy; Treluyer, Jean-Marc; Desguerre, Isabelle; Blanche, Stéphane; Crow, Yanick J.

N Engl J Med ; 379(23): 2275-7, 2018 12 06.

Artículo en Inglés | MEDLINE | ID: mdl-30566312

12.

Biallelic mutations in NRROS cause an early onset lethal microgliopathy.

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.

Acta Neuropathol ; 139(5): 947-951, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32100099

13.

Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.

Leung, Marco L; Woodhull, Whitney; Uggenti, Carolina; Schord, Shauna; Mato, Raul Perez; Rodriguez, Diana P; Ream, Margie; Crow, Yanick J; Mori, Mari.

Eur J Med Genet ; 66(4): 104731, 2023 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-36775013

14.

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

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

J Exp Med ; 217(11)2020 11 02.

Artículo en Inglés | MEDLINE | ID: mdl-32725128

15.

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Uggenti, Carolina; Lepelley, Alice; Depp, Marine; Badrock, Andrew P; Rodero, Mathieu P; El-Daher, Marie-Thérèse; Rice, Gillian I; Dhir, Somdutta; Wheeler, Ann P; Dhir, Ashish; Albawardi, Waad; Frémond, Marie-Louise; Seabra, Luis; Doig, Jennifer; Blair, Natalie; Martin-Niclos, Maria José; Della Mina, Erika; Rubio-Roldán, Alejandro; García-Pérez, Jose L; Sproul, Duncan; Rehwinkel, Jan; Hertzog, Jonny; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Baruteau, Julien; Brochard, Karine; Buckley, Jonathan; Cavallera, Vanessa; Cereda, Cristina; De Waele, Liesbeth M H; Dobbie, Angus; Doummar, Diane; Elmslie, Frances; Koch-Hogrebe, Margarete; Kumar, Ram; Lamb, Kate; Livingston, John H; Majumdar, Anirban; Lorenço, Charles Marques; Orcesi, Simona; Peudenier, Sylviane; Rostasy, Kevin; Salmon, Caroline A; Scott, Christiaan; Tonduti, Davide; Touati, Guy; Valente, Marialuisa; van der Linden, Hélio; Van Esch, Hilde.

Nat Genet ; 52(12): 1364-1372, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-33230297

16.

A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1.

Wood, Shaun R; McClements, Michelle E; Martinez-Fernandez de la Camara, Cristina; Patrício, Maria I; Uggenti, Carolina; Sekaran, Sumathi; Barnard, Alun R; Manson, Forbes D; MacLaren, Robert E.

Hum Gene Ther Methods ; 30(2): 44-52, 2019 04.

Artículo en Inglés | MEDLINE | ID: mdl-30963787

17.

Brief Report: Blockade of TANK-Binding Kinase 1/IKKÉ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.

Frémond, Marie-Louise; Uggenti, Carolina; Van Eyck, Lien; Melki, Isabelle; Bondet, Vincent; Kitabayashi, Naoki; Hertel, Christina; Hayday, Adrian; Neven, Bénédicte; Rose, Yoann; Duffy, Darragh; Crow, Yanick J; Rodero, Mathieu P.

Arthritis Rheumatol ; 69(7): 1495-1501, 2017 07.

Artículo en Inglés | MEDLINE | ID: mdl-28426911

18.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero, Mathieu P; Tesser, Alessandra; Bartok, Eva; Rice, Gillian I; Della Mina, Erika; Depp, Marine; Beitz, Benoit; Bondet, Vincent; Cagnard, Nicolas; Duffy, Darragh; Dussiot, Michael; Frémond, Marie-Louise; Gattorno, Marco; Guillem, Flavia; Kitabayashi, Naoki; Porcheray, Fabrice; Rieux-Laucat, Frederic; Seabra, Luis; Uggenti, Carolina; Volpi, Stefano; Zeef, Leo A H; Alyanakian, Marie-Alexandra; Beltrand, Jacques; Bianco, Anna Monica; Boddaert, Nathalie; Brouzes, Chantal; Candon, Sophie; Caorsi, Roberta; Charbit, Marina; Fabre, Monique; Faletra, Flavio; Girard, Muriel; Harroche, Annie; Hartmann, Evelyn; Lasne, Dominique; Marcuzzi, Annalisa; Neven, Bénédicte; Nitschke, Patrick; Pascreau, Tiffany; Pastore, Serena; Picard, Capucine; Picco, Paolo; Piscianz, Elisa; Polak, Michel; Quartier, Pierre; Rabant, Marion; Stocco, Gabriele; Taddio, Andrea; Uettwiller, Florence; Valencic, Erica.

Nat Commun ; 8(1): 2176, 2017 12 19.

Artículo en Inglés | MEDLINE | ID: mdl-29259162

19.

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.

Uggenti, Carolina; Briant, Kit; Streit, Anne-Kathrin; Thomson, Steven; Koay, Yee Hui; Baines, Richard A; Swanton, Eileithyia; Manson, Forbes D.

Dis Model Mech ; 9(11): 1317-1328, 2016 11 01.

Artículo en Inglés | MEDLINE | ID: mdl-27519691

20.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; Cordelli, Duccio M; De Waele, Liesbeth M; Fay, Alexander J; Ferreira, Patrick; Fletcher, Nicholas A; Fryer, Alan E; Goel, Himanshu; Hemingway, Cheryl A; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G; Lourenço, Charles M; Malpas, Timothy J; Mehta, Sarju G; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H; Sinnathuray, Kanaga R.

Nat Genet ; 48(10): 1185-92, 2016 10.

Artículo en Inglés | MEDLINE | ID: mdl-27571260

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