These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 24326009)

  • 1. 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. PubMed ID: 24326009
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
    Tanaka N; Izawa K; Saito MK; Sakuma M; Oshima K; Ohara O; Nishikomori R; Morimoto T; Kambe N; Goldbach-Mansky R; Aksentijevich I; de Saint Basile G; Neven B; van Gijn M; Frenkel J; Aróstegui JI; Yagüe J; Merino R; Ibañez M; Pontillo A; Takada H; Imagawa T; Kawai T; Yasumi T; Nakahata T; Heike T
    Arthritis Rheum; 2011 Nov; 63(11):3625-32. PubMed ID: 21702021
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 25979514
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Brief Report: whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome.
    Omoyinmi E; Melo Gomes S; Standing A; Rowczenio DM; Eleftheriou D; Klein N; Aróstegui JI; Lachmann HJ; Hawkins PN; Brogan PA
    Arthritis Rheumatol; 2014 Jan; 66(1):197-202. PubMed ID: 24431285
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
    Lasigliè D; Mensa-Vilaro A; Ferrera D; Caorsi R; Penco F; Santamaria G; Di Duca M; Amico G; Nakagawa K; Antonini F; Tommasini A; Consolini R; Insalaco A; Cattalini M; Obici L; Gallizzi R; Santarelli F; Del Zotto G; Severino M; Rubartelli A; Ravazzolo R; Martini A; Ceccherini I; Nishikomori R; Gattorno M; Arostegui JI; Borghini S
    J Rheumatol; 2017 Nov; 44(11):1667-1673. PubMed ID: 28916543
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 20131270
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Detection of base substitution-type somatic mosaicism of the NLRP3 gene with >99.9% statistical confidence by massively parallel sequencing.
    Izawa K; Hijikata A; Tanaka N; Kawai T; Saito MK; Goldbach-Mansky R; Aksentijevich I; Yasumi T; Nakahata T; Heike T; Nishikomori R; Ohara O
    DNA Res; 2012 Apr; 19(2):143-52. PubMed ID: 22279087
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 130(5):586-593. PubMed ID: 28229991
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Genetics of cryopyrin-associated periodic syndrome].
    Kümmerle-Deschner JB; Lohse P
    Z Rheumatol; 2017 May; 76(4):313-321. PubMed ID: 28197772
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.
    Ando T; Abe Y; Yamaji K; Nishikomori R; Tamura N
    Mod Rheumatol Case Rep; 2024 Jul; 8(2):368-372. PubMed ID: 38036300
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
    Mensa-Vilaro A; Teresa Bosque M; Magri G; Honda Y; Martínez-Banaclocha H; Casorran-Berges M; Sintes J; González-Roca E; Ruiz-Ortiz E; Heike T; Martínez-Garcia JJ; Baroja-Mazo A; Cerutti A; Nishikomori R; Yagüe J; Pelegrín P; Delgado-Beltran C; Aróstegui JI
    Arthritis Rheumatol; 2016 Dec; 68(12):3035-3041. PubMed ID: 27273849
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.
    Samson JM; Ravindran Menon D; Vaddi PK; Kalani Williams N; Domenico J; Zhai Z; Backos DS; Fujita M
    Front Immunol; 2020; 11():584364. PubMed ID: 33329557
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.
    Nishikomori R; Izawa K; Kambe N; Ohara O; Yasumi T
    Int Immunol; 2019 Sep; 31(10):649-655. PubMed ID: 31185077
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children.
    Eroglu FK; Kasapcopur O; Beşbaş N; Ozaltin F; Bilginer Y; Barut K; Mensa-Vilaro A; Nakagawa K; Heike T; Nishikomori R; Arostegui J; Ozen S
    Clin Exp Rheumatol; 2016; 34(6 Suppl 102):S115-S120. PubMed ID: 27191192
    [TBL] [Abstract][Full Text] [Related]  

  • 15. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
    Rodrigues F; Cuisset L; Cador-Rousseau B; Giurgea I; Neven B; Buob D; Quartier P; Hachulla E; Lequerré T; Cam G; Boursier G; Hervieu V; Grateau G; Georgin-Lavialle S
    Rheumatology (Oxford); 2022 Nov; 61(12):4827-4834. PubMed ID: 35262642
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.
    Tanaka T; Takahashi K; Yamane M; Tomida S; Nakamura S; Oshima K; Niwa A; Nishikomori R; Kambe N; Hara H; Mitsuyama M; Morone N; Heuser JE; Yamamoto T; Watanabe A; Sato-Otsubo A; Ogawa S; Asaka I; Heike T; Yamanaka S; Nakahata T; Saito MK
    Blood; 2012 Aug; 120(6):1299-308. PubMed ID: 22723549
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Cryopyrin-associated periodic syndromes].
    Quartier P; Rodrigues F; Georgin-Lavialle S
    Rev Med Interne; 2018 Apr; 39(4):287-296. PubMed ID: 29111302
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.
    Liu J; Zhang R; Yi Z; Lin Y; Chang H; Zhang Q
    Pediatr Rheumatol Online J; 2023 Feb; 21(1):15. PubMed ID: 36765385
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cryopyrin-associated periodic fever syndrome in children: A case-based review.
    Gupta A; Tripathy SK; Phulware RH; Arava S; Bagri NK
    Int J Rheum Dis; 2020 Feb; 23(2):262-270. PubMed ID: 31858722
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
    Abdulla MC; Alungal J; Hawkins PN; Mohammed S
    J Postgrad Med; 2015; 61(2):120-2. PubMed ID: 25766347
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.