| Year |
Citation |
Score |
| 2022 |
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, ... ... Kastner DL, et al. Gain-of-function mutations in cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Annals of the Rheumatic Diseases. PMID 35868845 DOI: 10.1136/annrheumdis-2022-222629 |
0.316 |
|
| 2022 |
Ferrada MA, Savic S, Ospina Cardona D, Collins JC, Alessi H, Gutierrez-Rodrigues F, Uthaya Kumar DB, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington K, ... ... Kastner DL, et al. Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood. PMID 35793467 DOI: 10.1182/blood.2022016985 |
0.31 |
|
| 2022 |
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron KS, Benseler S, Berard R, Broderick L, Dedeoglu F, Diebold M, Durrant KL, Ferguson P, Foell D, Hausmann J, ... ... Kastner DL, et al. The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist. Annals of the Rheumatic Diseases. PMID 35623638 DOI: 10.1136/annrheumdis-2021-221801 |
0.61 |
|
| 2022 |
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron K, Benseler S, Berard RA, Broderick L, Dedeoglu F, Diebold M, Durrant K, Ferguson P, Foell D, Hausmann JS, ... ... Kastner D, et al. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist. Arthritis & Rheumatology (Hoboken, N.J.). PMID 35621220 DOI: 10.1002/art.42139 |
0.61 |
|
| 2021 |
Stone DL, Ombrello A, Arostegui JI, Schneider C, Dang V, de Jesus A, Girard-Guyonvarc'h C, Gabay C, Lee W, Chae JJ, Aksentijevich I, Goldbach-Mansky RT, Kastner DL, Canna SW. Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in PSTPIP1. Arthritis & Rheumatology (Hoboken, N.J.). PMID 34492165 DOI: 10.1002/art.41976 |
0.634 |
|
| 2021 |
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, ... ... Kastner DL, et al. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients with VEXAS Syndrome. Arthritis & Rheumatology (Hoboken, N.J.). PMID 33779074 DOI: 10.1002/art.41743 |
0.311 |
|
| 2021 |
Schwartz DM, Kitakule MM, Dizon BL, Gutierrez-Huerta C, Blackstone SA, Burma AM, Son A, Deuitch N, Rosenzweig S, Komarow H, Stone DL, Jones A, Nehrebecky M, Hoffmann P, Romeo T, ... ... Kastner DL, et al. Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features. Annals of the Rheumatic Diseases. PMID 33619160 DOI: 10.1136/annrheumdis-2020-219137 |
0.588 |
|
| 2020 |
Park YH, Remmers EF, Lee W, Ombrello AK, Chung LK, Shilei Z, Stone DL, Ivanov MI, Loeven NA, Barron KS, Hoffmann P, Nehrebecky M, Akkaya-Ulum YZ, Sag E, Balci-Peynircioglu B, ... ... Kastner DL, et al. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis. Nature Immunology. PMID 32601469 DOI: 10.1038/S41590-020-0705-6 |
0.346 |
|
| 2019 |
Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. The Pyrin Inflammasome in Health and Disease. Frontiers in Immunology. 10: 1745. PMID 31456795 DOI: 10.3389/fimmu.2019.01745 |
0.309 |
|
| 2017 |
Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, ... ... Kastner DL, et al. NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. Proceedings of the National Academy of Sciences of the United States of America. PMID 28847925 DOI: 10.1073/Pnas.1702946114 |
0.597 |
|
| 2016 |
Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, Kuehn HS, Wang H, Yang D, Park YH, Ombrello AK, Blake M, Romeo T, Remmers EF, Chae JJ, ... ... Kastner DL, et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proceedings of the National Academy of Sciences of the United States of America. PMID 27559085 DOI: 10.1073/pnas.1612594113 |
0.349 |
|
| 2016 |
Park YH, Wood G, Kastner DL, Chae JJ. Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS. Nature Immunology. PMID 27270401 DOI: 10.1038/ni.3457 |
0.321 |
|
| 2016 |
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, ... ... Kastner DL, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. The Journal of Clinical Investigation. 126: 795. PMID 26829627 DOI: 10.1172/JCI86020 |
0.548 |
|
| 2015 |
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, ... ... Kastner DL, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. The Journal of Clinical Investigation. 125: 4196-211. PMID 26524591 DOI: 10.1172/JCI81260 |
0.599 |
|
| 2015 |
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, et al. Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β. The Journal of Experimental Medicine. 212: 927-38. PMID 26008898 DOI: 10.1084/Jem.20142384 |
0.334 |
|
| 2015 |
Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, Kastner DL, Ombrello AK. Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation. Arthritis & Rheumatology (Hoboken, N.J.). 67: 2482-6. PMID 25988971 DOI: 10.1002/art.39190 |
0.333 |
|
| 2014 |
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. Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS). Arthritis & Rheumatology (Hoboken, N.J.). 66: 3227-32. PMID 25223501 DOI: 10.1002/art.38811 |
0.509 |
|
| 2014 |
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, ... ... Kastner DL, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. The New England Journal of Medicine. 370: 911-20. PMID 24552284 DOI: 10.1056/Nejmoa1307361 |
0.534 |
|
| 2013 |
Balow JE, Ryan JG, Chae JJ, Booty MG, Bulua A, Stone D, Sun HW, Greene J, Barham B, Goldbach-Mansky R, Kastner DL, Aksentijevich I. Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts. Annals of the Rheumatic Diseases. 72: 1064-70. PMID 23223423 DOI: 10.1136/annrheumdis-2012-202082 |
0.557 |
|
| 2012 |
Lee GS, Subramanian N, Kim AI, Aksentijevich I, Goldbach-Mansky R, Sacks DB, Germain RN, Kastner DL, Chae JJ. The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP. Nature. 492: 123-7. PMID 23143333 DOI: 10.1038/Nature11588 |
0.557 |
|
| 2011 |
Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, Brown MR, Edwards KM, Ward MM, Colbert RA, Sun HW, Wood GM, Barham BK, Jones A, Aksentijevich I, ... ... Kastner DL, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proceedings of the National Academy of Sciences of the United States of America. 108: 7148-53. PMID 21478439 DOI: 10.1073/Pnas.1103681108 |
0.585 |
|
| 2010 |
Smith EJ, Allantaz F, Bennett L, Zhang D, Gao X, Wood G, Kastner DL, Punaro M, Aksentijevich I, Pascual V, Wise CA. Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review. Current Genomics. 11: 519-27. PMID 21532836 DOI: 10.2174/138920210793175921 |
0.37 |
|
| 2010 |
Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, Satorius C, Le JM, Yang B, Korman BD, Cakiris A, Aglar O, Emrence Z, Azakli H, Ustek D, Tugal-Tutkun I, ... ... Kastner DL, et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nature Genetics. 42: 698-702. PMID 20622878 DOI: 10.1038/ng.625 |
0.512 |
|
| 2010 |
Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, Chae JJ, Ettinger R, de Koning HD, Cruz AC, Kastner DL, Komarow H, Siegel RM. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proceedings of the National Academy of Sciences of the United States of America. 107: 9801-6. PMID 20457915 DOI: 10.1073/Pnas.0914118107 |
0.305 |
|
| 2010 |
Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 140: 784-90. PMID 20303869 DOI: 10.1016/j.cell.2010.03.002 |
0.489 |
|
| 2010 |
Lehmann P, Salzberger B, Haerle P, Aksentijevich I, Kastner D, Schoelmerich J, Rosenfeld S, Mueller-Ladner U. Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site Modern Rheumatology. 20: 311-315. PMID 20169391 DOI: 10.1007/s10165-010-0273-y |
0.318 |
|
| 2010 |
Goldbach-Mansky R, Kastner DL. Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. The Journal of Allergy and Clinical Immunology. 124: 1141-9; quiz 1150-1. PMID 20004775 DOI: 10.1016/j.jaci.2009.11.016 |
0.489 |
|
| 2009 |
Waite AL, Schaner P, Richards N, Balci-Peynircioglu B, Masters SL, Brydges SD, Fox M, Hong A, Yilmaz E, Kastner DL, Reinherz EL, Gumucio DL. Pyrin Modulates the Intracellular Distribution of PSTPIP1. Plos One. 4: e6147. PMID 19584923 DOI: 10.1371/Journal.Pone.0006147 |
0.303 |
|
| 2009 |
Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, Putnam CD, Boyle DL, Firestein GS, Horner AA, Soroosh P, Watford WT, O'Shea JJ, Kastner DL, Hoffman HM. Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity. 30: 875-87. PMID 19501000 DOI: 10.1016/J.Immuni.2009.05.005 |
0.577 |
|
| 2009 |
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, ... ... Kastner DL, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. The New England Journal of Medicine. 360: 2426-37. PMID 19494218 DOI: 10.1056/Nejmoa0807865 |
0.563 |
|
| 2008 |
Goldbach-Mansky R, Shroff SD, Wilson M, Snyder C, Plehn S, Barham B, Pham TH, Pucino F, Wesley RA, Papadopoulos JH, Weinstein SP, Mellis SJ, Kastner DL. 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. Arthritis and Rheumatism. 58: 2432-42. PMID 18668591 DOI: 10.1002/art.23620 |
0.597 |
|
| 2007 |
Goldbach-Mansky R, Pucino F, Kastner DL. Treatment of patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome: comment on the article by Matsubara et al. Arthritis and Rheumatism. 56: 2099-101; author rep. PMID 17530657 DOI: 10.1002/art.22561 |
0.489 |
|
| 2007 |
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. The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model Arthritis and Rheumatism. 56: 1273-1285. PMID 17393462 DOI: 10.1002/Art.22491 |
0.581 |
|
| 2006 |
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, ... ... Kastner DL, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. The New England Journal of Medicine. 355: 581-92. PMID 16899778 DOI: 10.1056/NEJMoa055137 |
0.593 |
|
| 2006 |
Aksentijevich I, Remmers EF, Goldbach-Mansky R, Reiff A, Kastner DL. Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et al. Arthritis and Rheumatism. 54: 2703-4; author reply. PMID 16871551 DOI: 10.1002/art.22022 |
0.489 |
|
| 2006 |
Jacob SE, Cowen EW, Goldbach-Mansky R, Kastner D, Turner ML. A recurrent rash with fever and arthropathy Journal of the American Academy of Dermatology. 54: 318-321. PMID 16443062 DOI: 10.1016/j.jaad.2005.07.007 |
0.455 |
|
| 2005 |
Lokuta MA, Cooper KM, Aksentijevich I, Kastner DL, Huttenlocher A. Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome. Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology. 95: 394-9. PMID 16279571 DOI: 10.1016/S1081-1206(10)61159-3 |
0.314 |
|
| 2003 |
Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proceedings of the National Academy of Sciences of the United States of America. 100: 13501-6. PMID 14595024 DOI: 10.1073/pnas.2135380100 |
0.318 |
|
| 2003 |
Aringer M, Hofmann SR, Frucht DM, Chen M, Centola M, Morinobu A, Visconti R, Kastner DL, Smolen JS, O'Shea JJ. Characterization and analysis of the proximal Janus kinase 3 promoter Journal of Immunology. 170: 6057-6064. PMID 12794134 |
0.535 |
|
| 2002 |
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, ... ... Kastner DL, et al. 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. Arthritis and Rheumatism. 46: 3340-8. PMID 12483741 DOI: 10.1002/Art.10688 |
0.702 |
|
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