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Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition.
Galbraith MD, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Worek K, Granrath RE, Kinning KT, Paul Eduthan N, Ludwig MP, Hsieh EWY, Sullivan KD, Espinosa JM. Galbraith MD, et al. Among authors: rachubinski al. Sci Adv. 2023 Jun 28;9(26):eadg6218. doi: 10.1126/sciadv.adg6218. Epub 2023 Jun 28. Sci Adv. 2023. PMID: 37379383 Free PMC article.
Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors.
Powers RK, Culp-Hill R, Ludwig MP, Smith KP, Waugh KA, Minter R, Tuttle KD, Lewis HC, Rachubinski AL, Granrath RE, Carmona-Iragui M, Wilkerson RB, Kahn DE, Joshi M, Lleó A, Blesa R, Fortea J, D'Alessandro A, Costello JC, Sullivan KD, Espinosa JM. Powers RK, et al. Among authors: rachubinski al. Nat Commun. 2019 Oct 18;10(1):4766. doi: 10.1038/s41467-019-12739-9. Nat Commun. 2019. PMID: 31628327 Free PMC article.
Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity.
Araya P, Waugh KA, Sullivan KD, Núñez NG, Roselli E, Smith KP, Granrath RE, Rachubinski AL, Enriquez Estrada B, Butcher ET, Minter R, Tuttle KD, Bruno TC, Maccioni M, Espinosa JM. Araya P, et al. Among authors: rachubinski al. Proc Natl Acad Sci U S A. 2019 Nov 26;116(48):24231-24241. doi: 10.1073/pnas.1908129116. Epub 2019 Nov 7. Proc Natl Acad Sci U S A. 2019. PMID: 31699819 Free PMC article.
Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome.
Waugh KA, Araya P, Pandey A, Jordan KR, Smith KP, Granrath RE, Khanal S, Butcher ET, Estrada BE, Rachubinski AL, McWilliams JA, Minter R, Dimasi T, Colvin KL, Baturin D, Pham AT, Galbraith MD, Bartsch KW, Yeager ME, Porter CC, Sullivan KD, Hsieh EW, Espinosa JM. Waugh KA, et al. Among authors: rachubinski al. Cell Rep. 2019 Nov 12;29(7):1893-1908.e4. doi: 10.1016/j.celrep.2019.10.038. Cell Rep. 2019. PMID: 31722205 Free PMC article. Clinical Trial.
JAK inhibition for treatment of psoriatic arthritis in Down syndrome.
Pham AT, Rachubinski AL, Enriquez-Estrada B, Worek K, Griffith M, Espinosa JM. Pham AT, et al. Among authors: rachubinski al. Rheumatology (Oxford). 2021 Sep 1;60(9):e309-e311. doi: 10.1093/rheumatology/keab203. Rheumatology (Oxford). 2021. PMID: 33630031 Free PMC article. No abstract available.
Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation.
Liggett LA, Galbraith MD, Smith KP, Sullivan KD, Granrath RE, Enriquez-Estrada B, Kinning KT, Shaw JR, Rachubinski AL, Espinosa JM, DeGregori J. Liggett LA, et al. Among authors: rachubinski al. Blood Adv. 2021 Apr 13;5(7):1791-1796. doi: 10.1182/bloodadvances.2020003858. Blood Adv. 2021. PMID: 33787858 Free PMC article.
IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome.
Araya P, Kinning KT, Coughlan C, Smith KP, Granrath RE, Enriquez-Estrada BA, Worek K, Sullivan KD, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Galbraith MD, Potter H, Espinosa JM. Araya P, et al. Among authors: rachubinski al. Cell Rep. 2022 Dec 27;41(13):111883. doi: 10.1016/j.celrep.2022.111883. Cell Rep. 2022. PMID: 36577365 Free PMC article.
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.
Waugh KA, Minter R, Baxter J, Chi C, Galbraith MD, Tuttle KD, Eduthan NP, Kinning KT, Andrysik Z, Araya P, Dougherty H, Dunn LN, Ludwig M, Schade KA, Tracy D, Smith KP, Granrath RE, Busquet N, Khanal S, Anderson RD, Cox LL, Estrada BE, Rachubinski AL, Lyford HR, Britton EC, Fantauzzo KA, Orlicky DJ, Matsuda JL, Song K, Cox TC, Sullivan KD, Espinosa JM. Waugh KA, et al. Among authors: rachubinski al. Nat Genet. 2023 Jun;55(6):1034-1047. doi: 10.1038/s41588-023-01399-7. Epub 2023 Jun 5. Nat Genet. 2023. PMID: 37277650 Free PMC article.
27 results