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 *

184 related articles for article (PubMed ID: 18080732)

  • 1. Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.
    Jesus AA; Silva CA; Segundo GR; Aksentijevich I; Fujihira E; Watanabe M; Carneiro-Sampaio M; Duarte AJ; Oliveira JB
    J Clin Immunol; 2008 Mar; 28(2):134-8. PubMed ID: 18080732
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.
    Aksentijevich I; Nowak M; Mallah M; Chae JJ; Watford WT; Hofmann SR; Stein L; Russo R; Goldsmith D; Dent P; Rosenberg HF; Austin F; Remmers EF; Balow JE; Rosenzweig S; Komarow H; Shoham NG; Wood G; Jones J; Mangra N; Carrero H; Adams BS; Moore TL; Schikler K; Hoffman H; Lovell DJ; Lipnick R; Barron K; O'Shea JJ; Kastner DL; Goldbach-Mansky R
    Arthritis Rheum; 2002 Dec; 46(12):3340-8. PubMed ID: 12483741
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
    Aróstegui JI; Aldea A; Modesto C; Rua MJ; Argüelles F; González-Enseñat MA; Ramos E; Rius J; Plaza S; Vives J; Yagüe J
    Arthritis Rheum; 2004 Dec; 50(12):4045-50. PubMed ID: 15593220
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).
    Nair SB; Chavan PP; Athalye AS; Aksentijevich I; Khubchandani RP
    Clin Rheumatol; 2019 Feb; 38(2):403-406. PubMed ID: 30066283
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.
    Shalev SA; Sprecher E; Indelman M; Hujirat Y; Bergman R; Rottem M
    Int Arch Allergy Immunol; 2007; 143(3):190-3. PubMed ID: 17284928
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
    Aksentijevich I; Putnam CD; Remmers EF; Mueller JL; Le J; Kolodner RD; Moak Z; Chuang M; Austin F; Goldbach-Mansky R; Hoffman HM; Kastner DL
    Arthritis Rheum; 2007 Apr; 56(4):1273-1285. PubMed ID: 17393462
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
    Saito M; Nishikomori R; Kambe N; Fujisawa A; Tanizaki H; Takeichi K; Imagawa T; Iehara T; Takada H; Matsubayashi T; Tanaka H; Kawashima H; Kawakami K; Kagami S; Okafuji I; Yoshioka T; Adachi S; Heike T; Miyachi Y; Nakahata T
    Blood; 2008 Feb; 111(4):2132-41. PubMed ID: 18063752
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cryopyrin-associated periodic syndrome: a case report and review of the Japanese literature.
    Aoyama K; Amano H; Takaoka Y; Nishikomori R; Ishikawa O
    Acta Derm Venereol; 2012 Jul; 92(4):395-8. PubMed ID: 22377911
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic characterization of Italian patients affected by CINCA syndrome.
    Caroli F; Pontillo A; D'Osualdo A; Travan L; Ceccherini I; Crovella S; Alessio M; Stabile A; Gattorno M; Tommasini A; Martini A; Lepore L
    Rheumatology (Oxford); 2007 Mar; 46(3):473-8. PubMed ID: 16920754
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
    Feldmann J; Prieur AM; Quartier P; Berquin P; Certain S; Cortis E; Teillac-Hamel D; Fischer A; de Saint Basile G
    Am J Hum Genet; 2002 Jul; 71(1):198-203. PubMed ID: 12032915
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A cryopyrin-associated periodic syndrome with joint destruction.
    Lequerré T; Vittecoq O; Saugier-Veber P; Goldenberg A; Patoz P; Frébourg T; Le Loët X
    Rheumatology (Oxford); 2007 Apr; 46(4):709-14. PubMed ID: 17178739
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nonclassic neurologic features in cryopyrin-associated periodic syndromes.
    Ting TV; Scalzi LV; Hashkes PJ
    Pediatr Neurol; 2007 May; 36(5):338-41. PubMed ID: 17509468
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 32(1):123-5. PubMed ID: 24144430
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.
    Pörksen G; Lohse P; Rösen-Wolff A; Heyden S; Förster T; Wendisch J; Heubner G; Bernuth H; Sallmann S; Gahr M; Roesler J
    Eur J Haematol; 2004 Aug; 73(2):123-7. PubMed ID: 15245511
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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;
    Ann Rheum Dis; 2015 Nov; 74(11):2043-9. PubMed ID: 25038238
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy.
    Stojanov S; Weiss M; Lohse P; Belohradsky BH
    Pediatrics; 2004 Jul; 114(1):e124-7. PubMed ID: 15231984
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.
    Hentgen V; Despert V; Leprêtre AC; Cuisset L; Chevrant-Breton J; Jégo P; Chalès G; Gall EL; Delpech M; Grateau G
    J Rheumatol; 2005 Apr; 32(4):747-51. PubMed ID: 15801036
    [TBL] [Abstract][Full Text] [Related]  

  • 19. New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.
    Maksimovic L; Stirnemann J; Caux F; Ravet N; Rouaghe S; Cuisset L; Letellier E; Grateau G; Morin AS; Fain O
    Rheumatology (Oxford); 2008 Mar; 47(3):309-10. PubMed ID: 18174231
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disease-associated mutations in CIAS1 induce cathepsin B-dependent rapid cell death of human THP-1 monocytic cells.
    Fujisawa A; Kambe N; Saito M; Nishikomori R; Tanizaki H; Kanazawa N; Adachi S; Heike T; Sagara J; Suda T; Nakahata T; Miyachi Y
    Blood; 2007 Apr; 109(7):2903-11. PubMed ID: 17164343
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.