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Items: 1 to 20 of 100

1.

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.

Rowczenio DM, Trojer H, Russell T, Baginska A, Lane T, Stewart NM, Gillmore JD, Hawkins PN, Woo P, Mikoluc B, Lachmann HJ.

Arthritis Res Ther. 2013 Feb 19;15(1):R30. doi: 10.1186/ar4171.

2.

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

Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, Cañellas J, Takei S, Kobayashi N, Callejas-Rubio JL, Ortego-Centeno N, Ruiz-Ortiz E, Rius F, Anton J, Iglesias E, Jimenez-Treviño S, Vargas C, Fernandez-Martin J, Calvo I, Hernández-Rodríguez J, Mendez M, Dordal MT, Basagaña M, Bujan S, Yashiro M, Kubota T, Koike R, Akuta N, Shimoyama K, Iwata N, Saito MK, Ohara O, Kambe N, Yasumi T, Izawa K, Kawai T, Heike T, Yagüe J, Nishikomori R, Aróstegui JI.

Ann Rheum Dis. 2015 Mar;74(3):603-10. doi: 10.1136/annrheumdis-2013-204361. Epub 2013 Dec 10.

PMID:
24326009
3.

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.

Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM.

Arthritis Res Ther. 2011;13(6):R196. doi: 10.1186/ar3526. Epub 2011 Dec 6.

4.

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever.

Ann Rheum Dis. 2015 Nov;74(11):2043-9. doi: 10.1136/annrheumdis-2013-204991. Epub 2014 Jul 18.

PMID:
25038238
5.

A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants.

Rieber N, Gavrilov A, Hofer L, Singh A, Öz H, Endres T, Schäfer I, Handgretinger R, Hartl D, Kuemmerle-Deschner J.

Clin Immunol. 2015 Mar;157(1):56-64. doi: 10.1016/j.clim.2015.01.003. Epub 2015 Jan 14.

PMID:
25596455
6.

Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.

Ohnishi H, Teramoto T, Iwata H, Kato Z, Kimura T, Kubota K, Nishikomori R, Kaneko H, Seishima M, Kondo N.

J Clin Immunol. 2012 Apr;32(2):221-9. doi: 10.1007/s10875-011-9629-0. Epub 2011 Dec 24.

PMID:
22193915
7.

A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.

Hu J, Zhu Y, Zhang JZ, Zhang RG, Li HM.

Chin Med J (Engl). 2017 Mar 5;130(5):586-593. doi: 10.4103/0366-6999.200537.

8.

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.

Aróstegui JI, Lopez Saldaña MD, Pascal M, Clemente D, Aymerich M, Balaguer F, Goel A, Fournier del Castillo C, Rius J, Plaza S, López Robledillo JC, Juan M, Ibañez M, Yagüe J.

Arthritis Rheum. 2010 Apr;62(4):1158-66. doi: 10.1002/art.27342.

9.

Two adult siblings with atypical cryopyrin-associated periodic syndrome due to a novel M299V mutation in NLRP3.

Verma D, Eriksson P, Sahdo B, Persson A, Ejdebäck M, Särndahl E, Söderkvist P.

Arthritis Rheum. 2010 Jul;62(7):2138-43. doi: 10.1002/art.27489.

10.

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

Kubota K, Ohnishi H, Teramoto T, Matsui E, Murase K, Kanoh H, Kato Z, Kaneko H, Seishima M, Kondo N.

J Clin Immunol. 2013 Feb;33(2):325-34. doi: 10.1007/s10875-012-9805-x. Epub 2012 Sep 27.

PMID:
23015306
11.

IL-1 blockade in autoinflammatory syndromes.

Jesus AA, Goldbach-Mansky R.

Annu Rev Med. 2014;65:223-44. doi: 10.1146/annurev-med-061512-150641. Review.

12.

[CAPS: cryopyrin-associated periodic syndrome].

Saito MK.

Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):369-77. Review. Japanese.

13.

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A.

Pediatr Rheumatol Online J. 2015 Apr 10;13:11. doi: 10.1186/s12969-015-0006-z. eCollection 2015.

14.

Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series.

Vitale A, Lucherini OM, Galeazzi M, Frediani B, Cantarini L.

Clin Exp Rheumatol. 2012 Nov-Dec;30(6):943-6. Epub 2012 Dec 17.

PMID:
22935299
15.

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France.

Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I; French CAPS study group.

Ann Rheum Dis. 2011 Mar;70(3):495-9. doi: 10.1136/ard.2010.138420. Epub 2010 Nov 24. Erratum in: Ann Rheum Dis. 2012 Jul;71(7):1264. Lemelle, C [corrected to Lemelle, I].

PMID:
21109514
16.

Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes.

Ozkurede VU, Franchi L.

Clin Exp Immunol. 2012 Mar;167(3):382-90. doi: 10.1111/j.1365-2249.2011.04535.x. Review.

17.

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation.

Canouï E, Maigné G, Jéru I, Amselem S, Koné-Paut I, Lambotte O.

Clin Immunol. 2013 Aug;148(2):299-300. doi: 10.1016/j.clim.2013.05.020. Epub 2013 Jun 12. No abstract available.

18.

Cell stress increases ATP release in NLRP3 inflammasome-mediated autoinflammatory diseases, resulting in cytokine imbalance.

Carta S, Penco F, Lavieri R, Martini A, Dinarello CA, Gattorno M, Rubartelli A.

Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):2835-40. doi: 10.1073/pnas.1424741112. Epub 2015 Feb 17.

19.

A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes.

Insalaco A, Prencipe G, Buonuomo PS, Ceccherini I, Bracaglia C, Pardeo M, Nicolai R, De Benedetti F.

Clin Exp Rheumatol. 2014 Jan-Feb;32(1):123-5. Epub 2013 Oct 11.

PMID:
24144430
20.

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G, Grandemange S, Touitou I.

Expert Rev Clin Immunol. 2015;11(7):827-35. doi: 10.1586/1744666X.2015.1047765. Epub 2015 May 15. Review.

PMID:
25979514

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