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ArticlesPeer ReviewedFull Text
MCC950 closes the active conformation of NLRP3 to an inactive state
Author / Creator:Tapia-Abellán, Ana ; Angosto-Bazarra, Diego ; Martínez-Banaclocha, Helios ; de Torre-Minguela, Carlos ; Cerón-Carrasco, Jose P. ; Pérez-Sánchez, Horacio ; Arostegui, Juan I. ; Pelegrin, Pablo
Publisher:New York: Nature Publishing Group US
Journal title:Nature chemical biology, 2019-06, Vol.15 (6), p.560-564
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
Author / Creator:Van Gijn, Marielle E ; Ceccherini, Isabella ; Shinar, Yael ; Carbo, Ellen C ; Slofstra, Mariska ; Arostegui, Juan I ; Sarrabay, Guillaume ; Rowczenio, Dorota ; Omoyımnı, Ebun ; Balci-Peynircioglu, Banu ; Hoffman, Hal M ; Milhavet, Florian ; Swertz, Morris A ; Touitou, Isabelle
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-08, Vol.55 (8), p.530-537
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Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production
Author / Creator:Molina-López, Cristina ; Hurtado-Navarro, Laura ; García, Carlos J. ; Angosto-Bazarra, Diego ; Vallejo, Fernando ; Tapia-Abellán, Ana ; Marques-Soares, Joana R. ; Vargas, Carmen ; Bujan-Rivas, Segundo ; Tomás-Barberán, Francisco A. ; Arostegui, Juan I. ; Pelegrin, Pablo
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-02, Vol.15 (1), p.1096-1096, Article 1096
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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
Author / Creator:Martín-Nalda, Andrea ; Fortuny, Claudia ; Rey, Lourdes ; Bunney, Tom D. ; Alsina, Laia ; Esteve-Solé, Ana ; Bull, Daniel ; Anton, Maria Carmen ; Basagaña, María ; Casals, Ferran ; Deyá, Angela ; García-Prat, Marina ; Gimeno, Ramon ; Juan, Manel ; Martinez-Banaclocha, Helios ; Martinez-Garcia, Juan J ; Mensa-Vilaró, Anna ; Rabionet, Raquel ; Martin-Begue, Nieves ; Rudilla, Francesc ; Yagüe, Jordi ; Estivill, Xavier ; García-Patos, Vicente ; Pujol, Ramon M. ; Soler-Palacín, Pere ; Katan, Matilda ; Pelegrín, Pablo ; Colobran, Roger ; Vicente, Asun ; Arostegui, Juan I.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2020-10, Vol.40 (7), p.987-1000
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The inflammasome adaptor protein ASC promotes amyloid deposition in cryopyrin-associated periodic syndromes
Author / Creator:Alarcón-Vila, Cristina ; Hurtado-Navarro, Laura ; Mateo, Sandra V ; Peñín-Franch, Alejandro ; Martínez, Carlos M ; Molina-López, Cristina ; Baños, María C ; Gómez, Ana I ; Gómez-Román, Javier ; Baroja-Mazo, Alberto ; Arostegui, Juan I ; Palmou-Fontana, Natalia ; Martínez-García, Juan J ; Pelegrin, Pablo
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2025-01, Vol.17 (1), p.41-53
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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Author / Creator:Rabionet, Raquel ; Remesal, Agustín ; Mensa-Vilaró, Anna ; Murías, Sara ; Alcobendas, Rosa ; González-Roca, Eva ; Ruiz-Ortiz, Estibaliz ; Antón, Jordi ; Iglesias, Estibaliz ; Modesto, Consuelo ; Comas, David ; Puig, Anna ; Drechsel, Oliver ; Ossowski, Stephan ; Yagüe, Jordi ; Merino, Rosa ; Estivill, Xavier ; Arostegui, Juan I.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-03, Vol.9 (1), p.4579, Article 4579
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New insights into the molecular basis of systemic vasculitis
Author / Creator:Cid, Maria C. ; Aróstegui, Juan I.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Rheumatology, 2014-06, Vol.10 (6), p.323-324
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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
Author / Creator:Azmanov, Dimitar N ; Dimitrova, Stanislava ; Florez, Laura ; Cherninkova, Sylvia ; Draganov, Dragomir ; Morar, Bharti ; Saat, Rosmawati ; Juan, Manel ; Arostegui, Juan I ; Ganguly, Sriparna ; Soodyall, Himla ; Chakrabarti, Subhabrata ; Padh, Harish ; López-Nevot, Miguel A ; Chernodrinska, Violeta ; Anguelov, Botio ; Majumder, Partha ; Angelova, Lyudmila ; Kaneva, Radka ; Mackey, David A ; Tournev, Ivailo ; Kalaydjieva, Luba
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.326-333
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ArticlesPeer ReviewedFull Text
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response
Author / Creator:Baroja-Mazo, Alberto ; Martín-Sánchez, Fatima ; Gomez, Ana I ; Martínez, Carlos M ; Amores-Iniesta, Joaquín ; Compan, Vincent ; Barberà-Cremades, Maria ; Yagüe, Jordi ; Ruiz-Ortiz, Estibaliz ; Antón, Jordi ; Buján, Segundo ; Couillin, Isabelle ; Brough, David ; Arostegui, Juan I ; Pelegrín, Pablo
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2014-08, Vol.15 (8), p.738-748
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A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
Author / Creator:Moghaddas, Fiona ; Llamas, Rafael ; De Nardo, Dominic ; Martinez-Banaclocha, Helios ; Martinez-Garcia, Juan J ; Mesa-del-Castillo, Pablo ; Baker, Paul J ; Gargallo, Vanessa ; Mensa-Vilaro, Anna ; Canna, Scott ; Wicks, Ian P ; Pelegrin, Pablo ; Arostegui, Juan I ; Masters, Seth L
Publisher:United States: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2017-12, Vol.76 (12), p.2085-2094
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Author / Creator:Nakagawa, Kenji ; Gonzalez-Roca, Eva ; Souto, Alejandro ; Kawai, Toshinao ; Umebayashi, Hiroaki ; Campistol, Josep María ; Cañellas, Jeronima ; Takei, Syuji ; Kobayashi, Norimoto ; Callejas-Rubio, Jose Luis ; Ortego-Centeno, Norberto ; Ruiz-Ortiz, Estíbaliz ; Rius, Fina ; Anton, Jordi ; Iglesias, Estibaliz ; Jimenez-Treviño, Santiago ; Vargas, Carmen ; Fernandez-Martin, Julian ; Calvo, Inmaculada ; Hernández-Rodríguez, José ; Mendez, María ; Dordal, María Teresa ; Basagaña, Maria ; Bujan, Segundo ; Yashiro, Masato ; Kubota, Tetsuo ; Koike, Ryuji ; Akuta, Naoko ; Shimoyama, Kumiko ; Iwata, Naomi ; Saito, Megumu K ; Ohara, Osamu ; Kambe, Naotomo ; Yasumi, Takahiro ; Izawa, Kazushi ; Kawai, Tomoki ; Heike, Toshio ; Yagüe, Jordi ; Nishikomori, Ryuta ; Aróstegui, Juan I
Publisher:England: BMJ Publishing Group
Journal title:Annals of the rheumatic diseases, 2015-03, Vol.74 (3), p.603-610
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ArticlesPeer ReviewedFull Text
G-CSF drives autoinflammation in APLAID
Author / Creator:Mulazzani, Elisabeth ; Kong, Klara ; Aróstegui, Juan I. ; Ng, Ashley P. ; Ranathunga, Nishika ; Abeysekera, Waruni ; Garnham, Alexandra L. ; Ng, Sze-Ling ; Baker, Paul J. ; Jackson, Jacob T. ; Lich, John D. ; Hibbs, Margaret L. ; Wicks, Ian P. ; Louis, Cynthia ; Masters, Seth L.
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2023-05, Vol.24 (5), p.814-826
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Evolving M-protein pattern in patients with smoldering multiple myeloma: impact on early progression
Author / Creator:Fernández de Larrea, Carlos ; Isola, Ignacio ; Pereira, Arturo ; Cibeira, Ma Teresa ; Magnano, Laura ; Tovar, Natalia ; Rodríguez-Lobato, Luis-Gerardo ; Calvo, Xavier ; Aróstegui, Juan I. ; Díaz, Tania ; Lozano, Ester ; Rozman, María ; Yagüe, Jordi ; Bladé, Joan ; Rosiñol, Laura
Publisher:London: Nature Publishing Group UK
Journal title:Leukemia, 2018-06, Vol.32 (6), p.1427-1434
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Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants
Author / Creator:Molins, Blanca ; Fuentes-Prior, Pablo ; Adán, Alfredo ; Antón, Rosa ; Arostegui, Juan I. ; Yagüe, Jordi ; Dick, Andrew D.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-03, Vol.6 (1), p.22889-22889, Article 22889
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Assessment of the gene mosaicism burden in blood and its implications for immune disorders
Author / Creator:Solís-Moruno, Manuel ; Mensa-Vilaró, Anna ; Batlle-Masó, Laura ; Lobón, Irene ; Bonet, Núria ; Marquès-Bonet, Tomàs ; Aróstegui, Juan I. ; Casals, Ferran
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-06, Vol.11 (1), p.12940-12940, Article 12940
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Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase r...
Author / Creator:Aróstegui, Juan I. ; Solís, Pilar ; Aldea, Anna ; Cantero, Teresa ; Rius, Josefa ; Bahíllo, Pilar ; Plaza, Susana ; Vives, Jordi ; Gómez, Samuel ; Yagüe, Jordi
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2005-01, Vol.164 (1), p.13-16
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Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
Author / Creator:Lee, Pui Y. ; Davidson, Brad A. ; Abraham, Roshini S. ; Alter, Blanche ; Arostegui, Juan I. ; Bell, Katherine ; Belot, Alexandre ; Bergerson, Jenna R. E. ; Bernard, Timothy J. ; Brogan, Paul A. ; Berkun, Yackov ; Deuitch, Natalie T. ; Dimitrova, Dimana ; Georgin-Lavialle, Sophie A. ; Gattorno, Marco ; Grimbacher, Bodo ; Hashem, Hasan ; Hershfield, Michael S. ; Ichord, Rebecca N. ; Izawa, Kazushi ; Kanakry, Jennifer A. ; Khubchandani, Raju P. ; Klouwer, Femke C.C. ; Luton, Evan A. ; Man, Ada W. ; Meyts, Isabelle ; Van Montfrans, Joris M. ; Ozen, Seza ; Saarela, Janna ; Santo, Gustavo C. ; Sharma, Aman ; Soldatos, Ariane ; Sparks, Rachel ; Torgerson, Troy R. ; Uriarte, Ignacio Leandro ; Youngstein, Taryn A. B. ; Zhou, Qing ; Aksentijevich, Ivona ; Kastner, Daniel L. ; Chambers, Eugene P. ; Ombrello, Amanda K. ; Makley, Mary K. ; Hayner, Kristen L. ; Kling, Bridget E. ; Cowsert, Lex M. ; Williams, Julie S.
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2023-05, Vol.6 (5), p.e2315894-e2315894
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ArticlesPeer ReviewedFull Text
Addendum: MCC950 closes the active conformation of NLRP3 to an inactive state
Author / Creator:Tapia-Abellán, Ana ; Angosto-Bazarra, Diego ; Martínez-Banaclocha, Helios ; de Torre-Minguela, Carlos ; Cerón-Carrasco, Jose P. ; Pérez-Sánchez, Horacio ; Arostegui, Juan I. ; Pelegrin, Pablo
Publisher:New York: Nature Publishing Group US
Journal title:Nature chemical biology, 2021-03, Vol.17 (3), p.361-361
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Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome
Author / Creator:Tapiz i Reula, Alfonso José ; Cochino, Alexis-Virgil ; Martins, Andreia L. ; Angosto-Bazarra, Diego ; de Landazuri, Iñaki Ortiz ; Mensa-Vilaró, Anna ; Cabral, Marta ; Baroja-Mazo, Alberto ; Baños, María C. ; Lobato-Salinas, Zulema ; Fabregat, Virginia ; Plaza, Susana ; Yagüe, Jordi ; Casals, Ferran ; Oliva, Baldomero ; Figueiredo, Antonio E. ; Pelegrín, Pablo ; Aróstegui, Juan I.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-10, Vol.42 (7), p.1421-1432
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ArticlesPeer ReviewedFull Text
Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders
Author / Creator:Solís-Moruno, Manuel ; Mensa-Vilaró, Anna ; Batlle-Masó, Laura ; Lobón, Irene ; Bonet, Núria ; Marquès-Bonet, Tomàs ; Aróstegui, Juan I. ; Casals, Ferran
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-08, Vol.11 (1), p.17030-17030, Article 17030
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Showing 1 to 20 of 40 results

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MCC950 closes the active conformation of NLRP3 to an inactive state

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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

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Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production

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Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

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The inflammasome adaptor protein ASC promotes amyloid deposition in cryopyrin-associated periodic syndromes

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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

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New insights into the molecular basis of systemic vasculitis

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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

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The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response

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A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever

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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

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G-CSF drives autoinflammation in APLAID

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Evolving M-protein pattern in patients with smoldering multiple myeloma: impact on early progression

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Complement factor H binding of monomeric C-reactive protein downregulates proinflammatory activity and is impaired with at risk polymorphic CFH variants

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Assessment of the gene mosaicism burden in blood and its implications for immune disorders

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Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase r...

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Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement

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Addendum: MCC950 closes the active conformation of NLRP3 to an inactive state

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Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

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Publisher Correction: Assessment of the gene mosaicism burden in blood and its implications for immune disorders

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