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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: lyford hr. 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: lyford hr. 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. Among authors: lyford hr. 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.
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: lyford hr. Elife. 2024 Dec 31;13:RP99323. doi: 10.7554/eLife.99323. Elife. 2024. PMID: 39737640 Free PMC article. Clinical Trial.
Evidence of blood-brain barrier dysfunction and CSF immunoglobulin synthesis in Down Syndrome Regression Disorder.
Santoro JD, Eduthan NP, Khoshnood MM, Jafarpour S, Boyd NK, Vogel BN, Nguyen L, Kazerooni L, Britton E, Lyford HR, Galbraith MD, Rachubinski AL, Espinosa JM. Santoro JD, et al. Among authors: lyford hr. Ann Clin Transl Neurol. 2025 Feb 25. doi: 10.1002/acn3.52299. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 39996411 Free article.