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Items: 1 to 20 of 174

1.

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Mégarbané A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD.

N Engl J Med. 2016 Feb 18;374(7):656-63. doi: 10.1056/NEJMoa1500611. Epub 2016 Feb 3.

PMID:
26841242
2.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, de Jesus AA, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother KI, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2016 Feb 1;126(2):795. doi: 10.1172/JCI86020. Epub 2016 Feb 1. No abstract available.

3.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease.

Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, Yang D, Demirkaya E, Takeuchi M, Tsai WL, Lyons JJ, Yu X, Ouyang C, Chen C, Chin DT, Zaal K, Chandrasekharappa SC, P Hanson E, Yu Z, Mullikin JC, Hasni SA, Wertz IE, Ombrello AK, Stone DL, Hoffmann P, Jones A, Barham BK, Leavis HL, van Royen-Kerkof A, Sibley C, Batu ED, Gül A, Siegel RM, Boehm M, Milner JD, Ozen S, Gadina M, Chae J, Laxer RM, Kastner DL, Aksentijevich I.

Nat Genet. 2016 Jan;48(1):67-73. doi: 10.1038/ng.3459. Epub 2015 Dec 7.

PMID:
26642243
4.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, Len C, Hilario MO, Oliveira S, Yeung RS, Rosenberg A, Wedderburn LR, Anton J, Schwarz T, Hinks A, Bilginer Y, Park J, Cobb J, Satorius CL, Han B, Baskin E, Signa S, Duerr RH, Achkar JP, Kamboh MI, Kaufman KM, Kottyan LC, Pinto D, Scherer SW, Alarcón-Riquelme ME, Docampo E, Estivill X, Gül A; British Society of Pediatric and Adolescent Rheumatology (BSPAR) Study Group; Childhood Arthritis Prospective Study (CAPS) Group; Randomized Placebo Phase Study of Rilonacept in sJIA (RAPPORT) Investigators; Sparks-Childhood Arthritis Response to Medication Study (CHARMS) Group; Biologically Based Outcome Predictors in JIA (BBOP) Group, de Bakker PI, Raychaudhuri S, Langefeld CD, Thompson S, Zeggini E, Thomson W, Kastner DL, Woo P; International Childhood Arthritis Genetics (INCHARGE) Consortium.

Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15970-5. doi: 10.1073/pnas.1520779112. Epub 2015 Nov 23.

5.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CC, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother K, Hildebrand PW, Brogan P, Krüger E, Aksentijevich I, Goldbach-Mansky R.

J Clin Invest. 2015 Nov 2;125(11):4196-211. doi: 10.1172/JCI81260. Epub 2015 Oct 20.

6.

The immunogenetics of Behçet's disease: A comprehensive review.

Takeuchi M, Kastner DL, Remmers EF.

J Autoimmun. 2015 Nov;64:137-48. doi: 10.1016/j.jaut.2015.08.013. Epub 2015 Sep 5. Review.

PMID:
26347074
7.

Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression.

Lubick KJ, Robertson SJ, McNally KL, Freedman BA, Rasmussen AL, Taylor RT, Walts AD, Tsuruda S, Sakai M, Ishizuka M, Boer EF, Foster EC, Chiramel AI, Addison CB, Green R, Kastner DL, Katze MG, Holland SM, Forlino A, Freeman AF, Boehm M, Yoshii K, Best SM.

Cell Host Microbe. 2015 Jul 8;18(1):61-74. doi: 10.1016/j.chom.2015.06.007.

PMID:
26159719
8.

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

Kim ML, Chae JJ, Park YH, De Nardo D, Stirzaker RA, Ko HJ, Tye H, Cengia L, DiRago L, Metcalf D, Roberts AW, Kastner DL, Lew AM, Lyras D, Kile BT, Croker BA, Masters SL.

J Exp Med. 2015 Jun 1;212(6):927-38. doi: 10.1084/jem.20142384. Epub 2015 May 25.

9.

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

Ombrello MJ, Kastner DL, Remmers EF.

Curr Opin Rheumatol. 2015 Jul;27(4):349-56. doi: 10.1097/BOR.0000000000000189. Review.

PMID:
26002026
10.

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK.

Arthritis Rheumatol. 2015 Sep;67(9):2482-6. doi: 10.1002/art.39190.

PMID:
25988971
11.

Prostaglandin E2 Inhibits NLRP3 Inflammasome Activation through EP4 Receptor and Intracellular Cyclic AMP in Human Macrophages.

Sokolowska M, Chen LY, Liu Y, Martinez-Anton A, Qi HY, Logun C, Alsaaty S, Park YH, Kastner DL, Chae JJ, Shelhamer JH.

J Immunol. 2015 Jun 1;194(11):5472-87. doi: 10.4049/jimmunol.1401343. Epub 2015 Apr 27.

PMID:
25917098
12.

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.

Coll RC, Robertson AA, Chae JJ, Higgins SC, Muñoz-Planillo R, Inserra MC, Vetter I, Dungan LS, Monks BG, Stutz A, Croker DE, Butler MS, Haneklaus M, Sutton CE, Núñez G, Latz E, Kastner DL, Mills KH, Masters SL, Schroder K, Cooper MA, O'Neill LA.

Nat Med. 2015 Mar;21(3):248-55. doi: 10.1038/nm.3806. Epub 2015 Feb 16.

13.

Reply to Stoimenis et al.

Bakir-Gungor B, Remmers EF, Meguro A, Mizuki N, Kastner DL, Gul A, Sezerman OU.

Eur J Hum Genet. 2015 Oct;23(10):1280. doi: 10.1038/ejhg.2014.288. Epub 2015 Jan 14. No abstract available.

PMID:
25585694
14.

Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation.

Chae JJ, Park YH, Park C, Hwang IY, Hoffmann P, Kehrl JH, Aksentijevich I, Kastner DL.

Arthritis Rheumatol. 2015 Feb;67(2):563-7.

15.

When less is more: primary immunodeficiency with an autoinflammatory kick.

Giannelou A, Zhou Q, Kastner DL.

Curr Opin Allergy Clin Immunol. 2014 Dec;14(6):491-500. doi: 10.1097/ACI.0000000000000117. Review.

16.

Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.

Bakir-Gungor B, Remmers EF, Meguro A, Mizuki N, Kastner DL, Gul A, Sezerman OU.

Eur J Hum Genet. 2015 May;23(5):678-87. doi: 10.1038/ejhg.2014.158. Epub 2014 Sep 17.

17.

Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).

Chang Z, Spong CY, Jesus AA, Davis MA, Plass N, Stone DL, Chapelle D, Hoffmann P, Kastner DL, Barron K, Goldbach-Mansky RT, Stratton P.

Arthritis Rheumatol. 2014 Nov;66(11):3227-32.

18.

Mutant ADA2 in vasculopathies.

Kastner DL, Zhou Q, Aksentijevich I.

N Engl J Med. 2014 Jul 31;371(5):480-1. doi: 10.1056/NEJMc1405506. No abstract available.

19.

Activated STING in a vascular and pulmonary syndrome.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CC, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R.

N Engl J Med. 2014 Aug 7;371(6):507-18. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16.

20.

Genetics, genomics, and their relevance to pathology and therapy.

Ombrello MJ, Sikora KA, Kastner DL.

Best Pract Res Clin Rheumatol. 2014 Apr;28(2):175-89. doi: 10.1016/j.berh.2014.05.001. Review.

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