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Page 1
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. 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.
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.
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: rachubinski al. 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.
JAK inhibition decreases the autoimmune burden in Down syndrome.
Rachubinski AL, Wallace E, Gurnee E, Estrada BAE, 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. medRxiv [Preprint]. 2024 Oct 16:2024.06.13.24308783. doi: 10.1101/2024.06.13.24308783. medRxiv. 2024. Update in: Elife. 2024 Dec 31;13:RP99323. doi: 10.7554/eLife.99323. PMID: 38946973 Free PMC article. Updated. Preprint.
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.
Genome-wide association studies of Down syndrome associated congenital heart defects.
Feldman ER, Li Y, Cutler DJ, Rosser TC, Wechsler SB, Sanclemente L, Rachubinski AL, Elliott N, Vyas P, Roberts I, Rabin KR, Wagner M, Gelb BD, Espinosa JM, Lupo PJ, de Smith AJ, Sherman SL, Leslie EJ. Feldman ER, et al. Among authors: rachubinski al. medRxiv [Preprint]. 2024 Sep 6:2024.09.06.24313183. doi: 10.1101/2024.09.06.24313183. medRxiv. 2024. PMID: 39281767 Free PMC article. Preprint.
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. Elife. 2024 Dec 31;13:RP99323. doi: 10.7554/eLife.99323. Elife. 2024. PMID: 39737640 Free PMC article. Clinical Trial.
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.
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, Rafii MS. Santoro JD, et al. Among authors: rachubinski al. Ann Clin Transl Neurol. 2024 Apr;11(4):1034-1045. doi: 10.1002/acn3.52023. Epub 2024 Feb 20. Ann Clin Transl Neurol. 2024. PMID: 38375538 Free PMC article.
26 results