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201 results

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Page 1
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L. Baghdassarian H, et al. Among authors: goldbach mansky r. N Engl J Med. 2023 Jun 15;388(24):2241-2252. doi: 10.1056/NEJMoa2202318. Epub 2023 May 31. N Engl J Med. 2023. PMID: 37256972 Free PMC article.
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E. Papendorf JJ, et al. Among authors: goldbach mansky r. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS.
Cetin Gedik K, Ortega-Villa AM, Materne G, Rastegar A, Montealegre Sanchez GA, Reinhardt A, Brogan PA, Berkun Y, Murias S, Robles M, Schalm S, de Jesus AA, Goldbach-Mansky R. Cetin Gedik K, et al. Among authors: goldbach mansky r. Ann Rheum Dis. 2024 Apr 30:ard-2023-225463. doi: 10.1136/ard-2023-225463. Online ahead of print. Ann Rheum Dis. 2024. PMID: 38653530 Free article.
Antiviral innate immunity is diminished in the upper respiratory tract of severe COVID-19 patients.
Ramos-Benitez MJ, Strich JR, Alehashemi S, Stein S, Rastegar A, de Jesus AA, Bhuyan F, Ramelli S, Babyak A, Perez-Valencia L, Vannella KM, Grubbs G, Khurana S, Gross R, Hadley K, Liang J, Mazur S, Postnikova E, Warner S, Holbrook MR, Busch LM, Warner B, Applefeld W, Warner S, Kadri SS, Davey RT, Goldbach-Mansky R, Chertow DS. Ramos-Benitez MJ, et al. medRxiv [Preprint]. 2022 Nov 13:2022.11.08.22281846. doi: 10.1101/2022.11.08.22281846. medRxiv. 2022. PMID: 36415460 Free PMC article. Preprint.
Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS.
Dafun AS, Živković D, Leon-Icaza SA, Möller S, Froment C, Bonnet D, de Jesus AA, Alric L, Quaranta-Nicaise M, Ferrand A, Cougoule C, Meunier E, Burlet-Schiltz O, Ebstein F, Goldbach-Mansky R, Krüger E, Bousquet MP, Marcoux J. Dafun AS, et al. Cells. 2023 Mar 8;12(6):844. doi: 10.3390/cells12060844. Cells. 2023. PMID: 36980185 Free PMC article.
Anakinra-associated renal amyloidosis.
Nasr SH, Alehashemi S, Dasari S, Waldman M, Afzali B, Chiu A, Bolanos J, Goldbach-Mansky R, McPhail ED. Nasr SH, et al. Among authors: goldbach mansky r. Kidney Int. 2024 Feb;105(2):395-396. doi: 10.1016/j.kint.2023.08.020. Kidney Int. 2024. PMID: 38245224 No abstract available.
201 results