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Page 1
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Iannuzzo A, Delafontaine S, El Masri R, Tacine R, Prencipe G, Nishitani-Isa M, van Wijck RTA, Bhuyan F, de Jesus Rasheed AA, Coppola S, van Daele PLA, Insalaco A, Goldbach-Mansky R, Yasumi T, Tartaglia M, Meyts I, Delon J. Iannuzzo A, et al. Among authors: goldbach mansky r. Nat Commun. 2024 Nov 16;15(1):9940. doi: 10.1038/s41467-024-54294-y. Nat Commun. 2024. PMID: 39550374 Free PMC article.
Normalized Interferon Signatures and Clinical Improvements by IFNAR1 Blocking Antibody (Anifrolumab) in Patients with Type I Interferonopathies.
Kretzschmar G, Páez LP, Tan Z, Wang J, Gonzalez L, Mugabo CH, Johnsson A, Chen Y, Mikeš J, Lakshmikanth T, James A, Goldbach-Mansky R, Fischer M, Palmblad K, Alehashemi S, Horne A, Brodin P. Kretzschmar G, et al. Among authors: goldbach mansky r. J Clin Immunol. 2024 Oct 23;45(1):31. doi: 10.1007/s10875-024-01826-2. J Clin Immunol. 2024. PMID: 39441221 Free PMC article.
Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation.
Joseph B, Varea I, Emmerich K, Manohar-Sindhu S, Zou J, Friend K, Sipwoli C, Tang X, Yang D, de Jesus Rasheed AA, Goldbach-Mansky R, Boehm M. Joseph B, et al. Among authors: goldbach mansky r. Stem Cell Res. 2024 Oct;80:103504. doi: 10.1016/j.scr.2024.103504. Epub 2024 Jul 19. Stem Cell Res. 2024. PMID: 39110999 Free PMC article.
Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene.
Varea I, Joseph B, Emmerich K, Manohar-Sindhu S, Zou J, Friend K, Tang X, Yang D, de Jesus Rasheed AA, Goldbach-Mansky R, Boehm M. Varea I, et al. Among authors: goldbach mansky r. Stem Cell Res. 2024 Oct;80:103517. doi: 10.1016/j.scr.2024.103517. Epub 2024 Jul 30. Stem Cell Res. 2024. PMID: 39106600 Free article.
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.
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.
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
Oikonomou V, Smith G, Constantine GM, Schmitt MM, Ferré EMN, Alejo JC, Riley D, Kumar D, Dos Santos Dias L, Pechacek J, Hadjiyannis Y, Webb T, Seifert BA, Ghosh R, Walkiewicz M, Martin D, Besnard M, Snarr BD, Deljookorani S, Lee CR, DiMaggio T, Barber P, Rosen LB, Cheng A, Rastegar A, de Jesus AA, Stoddard J, Kuehn HS, Break TJ, Kong HH, Castelo-Soccio L, Colton B, Warner BM, Kleiner DE, Quezado MM, Davis JL, Fennelly KP, Olivier KN, Rosenzweig SD, Suffredini AF, Anderson MS, Swidergall M, Guillonneau C, Notarangelo LD, Goldbach-Mansky R, Neth O, Monserrat-Garcia MT, Valverde-Fernandez J, Lucena JM, Gomez-Gila AL, Garcia Rojas A, Seppänen MRJ, Lohi J, Hero M, Laakso S, Klemetti P, Lundberg V, Ekwall O, Olbrich P, Winer KK, Afzali B, Moutsopoulos NM, Holland SM, Heller T, Pittaluga S, Lionakis MS. Oikonomou V, et al. Among authors: goldbach mansky r. N Engl J Med. 2024 May 30;390(20):1873-1884. doi: 10.1056/NEJMoa2312665. N Engl J Med. 2024. PMID: 38810185 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 Aug 27;83(9):1181-1188. doi: 10.1136/ard-2023-225463. Ann Rheum Dis. 2024. PMID: 38653530 Free PMC article.
209 results