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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: espinosa jm. 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 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: espinosa jm. 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.
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: espinosa jm. Cell Rep. 2022 Dec 27;41(13):111883. doi: 10.1016/j.celrep.2022.111883. Cell Rep. 2022. PMID: 36577365 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: espinosa jm. 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.
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. Among authors: espinosa jm. 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.
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: espinosa jm. 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.
Integrated analysis of immunometabolic interactions in Down syndrome.
Gillenwater LA, Galbraith MD, Rachubinski AL, Eduthan NP, Sullivan KD, Espinosa JM, Costello JC. Gillenwater LA, et al. Among authors: espinosa jm. Sci Adv. 2024 Dec 13;10(50):eadq3073. doi: 10.1126/sciadv.adq3073. Epub 2024 Dec 13. Sci Adv. 2024. PMID: 39671500 Free PMC article.
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: espinosa jm. Elife. 2024 Dec 31;13:RP99323. doi: 10.7554/eLife.99323. Elife. 2024. PMID: 39737640 Free PMC article. Clinical Trial.
184 results