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Page 1
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: enriquez estrada b. Blood Adv. 2021 Apr 13;5(7):1791-1796. doi: 10.1182/bloodadvances.2020003858. Blood Adv. 2021. PMID: 33787858 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: enriquez estrada b. 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.
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: enriquez estrada b. 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.
JAK inhibition decreases the autoimmune burden in Down syndrome.
Rachubinski AL, Wallace E, Gurnee E, Enriquez-Estrada BA, Worek KR, Smith KP, Araya P, Waugh KA, Granrath RE, Britton E, Lyford HR, Donovan MG, Eduthan NP, Hill AA, Martin B, Sullivan KD, Patel L, Fidler DJ, Galbraith MD, Dunnick CA, Norris DA, Espinosa JM. Rachubinski AL, et al. Among authors: enriquez estrada ba. Elife. 2024 Dec 31;13:RP99323. doi: 10.7554/eLife.99323. Elife. 2024. PMID: 39737640 Free PMC article. Clinical Trial.
JAK inhibition in Down Syndrome Regression Disorder.
Rachubinski AL, Patel LR, Sannar EM, Kammeyer RM, Sanders J, Enriquez-Estrada BA, Worek KR, Fidler DJ, Santoro JD, Espinosa JM. Rachubinski AL, et al. Among authors: enriquez estrada ba. J Neuroimmunol. 2024 Oct 15;395:578442. doi: 10.1016/j.jneuroim.2024.578442. Epub 2024 Aug 22. J Neuroimmunol. 2024. PMID: 39216159 Free article.
Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome.
Donovan MG, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Britton EC, Lyford HR, Granrath RE, Schade KA, Kinning KT, Paul Eduthan N, Sullivan KD, Galbraith MD, Espinosa JM. Donovan MG, et al. Among authors: enriquez estrada b. Cell Rep. 2024 Aug 27;43(8):114599. doi: 10.1016/j.celrep.2024.114599. Epub 2024 Aug 8. Cell Rep. 2024. PMID: 39120971 Free PMC article.
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: enriquez estrada b. 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.
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: enriquez estrada ba. Cell Rep. 2022 Dec 27;41(13):111883. doi: 10.1016/j.celrep.2022.111883. Cell Rep. 2022. PMID: 36577365 Free PMC article.