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210 results

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Page 1
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. Front Immunol. 2023 Aug 4;14:1190104. doi: 10.3389/fimmu.2023.1190104. eCollection 2023. Front Immunol. 2023. PMID: 37600812 Free PMC article.
Development of nitroalkene-based inhibitors to target STING-dependent inflammation.
Chang F, Gunderstofte C, Colussi N, Pitts M, Salvatore SR, Thielke AL, Turell L, Alvarez B, Goldbach-Mansky R, Villacorta L, Holm CK, Schopfer FJ, Hansen AL. Chang F, et al. Among authors: goldbach mansky r. Redox Biol. 2024 Aug;74:103202. doi: 10.1016/j.redox.2024.103202. Epub 2024 May 21. Redox Biol. 2024. PMID: 38865901 Free PMC 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.
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation.
Caldirola MS, Seminario AG, Luna PC, Curciarello R, Docena GH, Fernandez Escobar N, Drelichman G, Gattorno M, de Jesus AA, Goldbach-Mansky R, Gaillard MI, Bezrodnik L. Caldirola MS, et al. Front Pediatr. 2023 Mar 10;11:1108207. doi: 10.3389/fped.2023.1108207. eCollection 2023. Front Pediatr. 2023. PMID: 36969289 Free PMC article.
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. Kidney Int. 2024 Feb;105(2):395-396. doi: 10.1016/j.kint.2023.08.020. Kidney Int. 2024. PMID: 38245224 No abstract available.
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.
Adang LA, D'Aiello R, Takanohashi A, Woidill S, Gavazzi F, Behrens EM, Sullivan KE, Goldbach-Mansky R, de Jesus AA; AGS Clinical Trial Readiness Workgroup; Vanderver A, Shults J. Adang LA, et al. Among authors: goldbach mansky r. JCI Insight. 2024 Jun 17;9(14):e178456. doi: 10.1172/jci.insight.178456. JCI Insight. 2024. PMID: 38885315 Free PMC article.
210 results