SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes-Reference-Cited by-同舟云学术

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

Published:2013-12-10 Issue:3 Volume:74 Page:603-610
ISSN:0003-4967
Container-title:Annals of the Rheumatic Diseases
language:en
Short-container-title:Ann Rheum Dis

Author:

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

BMJ

Subject

General Biochemistry, Genetics and Molecular Biology,Immunology,Immunology and Allergy,Rheumatology

Reference31 articles.

1. Chapter 27: Periodic fever syndromes;Kastner,2007

2. Mutations of a new gene encoding a putative pyrin-like protein causes familial cold autoinflamatory syndrome and Muckle-Wells syndrome;Hoffman;Nature Genet,2001

3. De novo CIAS1 mutations, cytokine activation, and evidence of genetic heterogeneity in patients with Neonatal-Onset Multisystem Inflammatory Disease (NOMID);Aksentijevich;Arthritis Rheum,2002

4. Chronic Infantile Neurological Cutaneous and Articular Syndrome is Caused by mutations in CIAS1, a Gene Highly Expressed in polymorphonuclear Cells and Chondrocytes;Feldman;Am J Hum Genet,2002

5. The inflammasomes: guardians of the body;Martinon;Annu Rev Immunol,2009

Cited by 101 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inheritance of STING mosaicism in two half-siblings;Journal of Clinical Immunology;2024-07-30

2. The New Frontiers of Gene Therapy and Gene Editing in Inflammatory Diseases;Human Gene Therapy;2024-04-01

3. Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice;Arthritis & Rheumatology;2024-03-26

4. Practical Approach to Diagnosis and Management of IL-1-Mediated Autoinflammatory Diseases (CAPS, TRAPS, MKD, and DIRA);Pediatric Drugs;2024-02-20

5. Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production;Nature Communications;2024-02-06