Literature DB >> 16871551

Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et al.

Ivona Aksentijevich, Elaine F Remmers, Raphaela Goldbach-Mansky, Andreas Reiff, Daniel L Kastner.   

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Year:  2006        PMID: 16871551     DOI: 10.1002/art.22022

Source DB:  PubMed          Journal:  Arthritis Rheum        ISSN: 0004-3591


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  8 in total

1.  A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome.

Authors:  Raphaela Goldbach-Mansky; Sharukh D Shroff; Mildred Wilson; Christopher Snyder; Sara Plehn; Beverly Barham; Tuyet-Hang Pham; Frank Pucino; Robert A Wesley; Joanne H Papadopoulos; Steven P Weinstein; Scott J Mellis; Daniel L Kastner
Journal:  Arthritis Rheum       Date:  2008-08

Review 2.  [Genetics of cryopyrin-associated periodic syndrome].

Authors:  J B Kümmerle-Deschner; P Lohse
Journal:  Z Rheumatol       Date:  2017-05       Impact factor: 1.372

Review 3.  The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Authors:  Cristina Conforti-Andreoni; Paola Ricciardi-Castagnoli; Alessandra Mortellaro
Journal:  Cell Mol Immunol       Date:  2011-01-24       Impact factor: 11.530

4.  In vitro analysis of the functional effects of an NLRP3 G809S variant with the co-existence of MEFV haplotype variants in atypical autoinflammatory syndrome.

Authors:  Kazuo Kubota; Hidenori Ohnishi; Takahide Teramoto; Eiko Matsui; Kana Murase; Hiroyuki Kanoh; Zenichiro Kato; Hideo Kaneko; Mariko Seishima; Naomi Kondo
Journal:  J Clin Immunol       Date:  2012-09-27       Impact factor: 8.317

Review 5.  Somatic mutations in rheumatological diseases: VEXAS syndrome and beyond.

Authors:  Keith A Sikora; Kristina V Wells; Ertugrul Cagri Bolek; Adrianna I Jones; Peter C Grayson
Journal:  Rheumatology (Oxford)       Date:  2022-08-03       Impact factor: 7.046

6.  The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Authors:  Ivona Aksentijevich; Christopher D Putnam; Hal M Hoffman; Daniel L Kastner; Elaine F Remmers; James L Mueller; Julie Le; Richard D Kolodner; Zachary Moak; Michael Chuang; Frances Austin; Raphaela Goldbach-Mansky
Journal:  Arthritis Rheum       Date:  2007-04

7.  Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.

Authors:  Jenny Mae Samson; Dinoop Ravindran Menon; Prasanna K Vaddi; Nazanin Kalani Williams; Joanne Domenico; Zili Zhai; Donald S Backos; Mayumi Fujita
Journal:  Front Immunol       Date:  2020-11-19       Impact factor: 7.561

8.  NLRP3 activation and mitosis are mutually exclusive events coordinated by NEK7, a new inflammasome component.

Authors:  Hexin Shi; Ying Wang; Xiaohong Li; Xiaoming Zhan; Miao Tang; Maggy Fina; Lijing Su; David Pratt; Chun Hui Bu; Sara Hildebrand; Stephen Lyon; Lindsay Scott; Jiexia Quan; Qihua Sun; Jamie Russell; Stephanie Arnett; Peter Jurek; Ding Chen; Vladimir V Kravchenko; John C Mathison; Eva Marie Y Moresco; Nancy L Monson; Richard J Ulevitch; Bruce Beutler
Journal:  Nat Immunol       Date:  2015-12-07       Impact factor: 25.606

  8 in total

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