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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
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.
Afiliación
  • Nakagawa K; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Gonzalez-Roca E; Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  • Souto A; Department of Rheumatology, Hospital Universitario de Santiago de Compostela, Santiago de Compostela, Spain.
  • Kawai T; Department of Human Genetics, National Center for Child Health and Development, Tokyo, Japan.
  • Umebayashi H; Department of General Pediatrics, Miyagi Children's Hospital, Sendai, Japan.
  • Campistol JM; Department of Nephrology, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  • Cañellas J; Department of Rheumatology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Takei S; Faculty of Medicine, School of Health Sciences, Kagoshima University, Kagoshima, Japan.
  • Kobayashi N; Department of Pediatrics, School of Medicine, Shinshu University, Matsumoto, Japan.
  • Callejas-Rubio JL; Department of Internal Medicine, Hospital Universitario San Cecilio, Granada, Spain.
  • Ortego-Centeno N; Department of Internal Medicine, Hospital Universitario San Cecilio, Granada, Spain.
  • Ruiz-Ortiz E; Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  • Rius F; Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  • Anton J; Department of Pediatric Rheumatology, Hospital Sant Joan de Deu, Esplugues, Spain.
  • Iglesias E; Department of Pediatric Rheumatology, Hospital Sant Joan de Deu, Esplugues, Spain.
  • Jimenez-Treviño S; Department of Pediatrics, Hospital Central de Asturias, Oviedo, Spain.
  • Vargas C; Department of Rheumatology, Hospital Virgen de la Macarena, Sevilla, Spain.
  • Fernandez-Martin J; Department of Internal Medicine, Hospital Meixoeiro, Vigo, Spain.
  • Calvo I; Department of Pediatric Rheumatology, Hospital Universitario La Fe, Valencia, Spain.
  • Hernández-Rodríguez J; Department of Autoimmune Diseases, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  • Mendez M; Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Dordal MT; Department of Allergy, Hospital Municipal de Badalona, Badalona, Spain.
  • Basagaña M; Allergy Unit, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
  • Bujan S; Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain.
  • Yashiro M; Department of Pediatrics, Okayama University Graduate School of Medicine, Okayama, Japan.
  • Kubota T; Department of Medicine and Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Koike R; Department of Medicine and Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Akuta N; Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
  • Shimoyama K; Third Internal Medicine Department, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Iwata N; Department of Infection and Immunology, Aichi Children's Health and Medical Centre, Obu, Japan.
  • Saito MK; Department of Clinical Application, Center for iPS cell research and application, Kyoto University, Kyoto, Japan.
  • Ohara O; Department of Human Genome Research, Kazusa DNA Research Institute, Kisarazu, Japan.
  • Kambe N; Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
  • Yasumi T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Izawa K; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Kawai T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Heike T; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Yagüe J; Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
  • Nishikomori R; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Aróstegui JI; Department of Immunology-CDB, Hospital Clínic-IDIBAPS, Barcelona, Spain.
Ann Rheum Dis ; 74(3): 603-10, 2015 Mar.
Article en En | MEDLINE | ID: mdl-24326009

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Síndromes Periódicos Asociados a Criopirina / Mosaicismo Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Ann Rheum Dis Año: 2015 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Síndromes Periódicos Asociados a Criopirina / Mosaicismo Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Ann Rheum Dis Año: 2015 Tipo del documento: Article