Espinosa, Joaquin M.

The Histone Deacetylase Sirt6 Regulates Glucose Homeostasis via Hif1α

Zhong, L., D'Urso, A., Toiber, D., Sebastian, C., Henry, R. E., Vadysirisack, D. D., Guimaraes, A., Marinelli, B., Wikstrom, J. D., Nir, T., et al. (2010) · Cell

Sirtuins and Resveratrol in MedicineMetabolism, Diabetes, and Cancer

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Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

Sullivan, K. D., Evans, D., Pandey, A., Hraha, T. H., Smith, K. P., Markham, N., Rachubinski, A. L., Wolter-Warmerdam, K., Hickey, F., Espinosa, J. M., et al. (2017) · Scientific Reports

Down syndrome and intellectual disability researchinterferon and immune responses

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Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome

Waugh, K. A., Araya, P., Pandey, A., Jordan, K. R., Smith, K. P., Granrath, R. E., Khanal, S., Butcher, E. T., Estrada, B. E., Rachubinski, A. L., et al. (2019) · Cell Reports

Down syndrome and intellectual disability researchinterferon and immune responses

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Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

Waugh, K. A., Minter, R., Baxter, J., Chi, C., Galbraith, M. D., Tuttle, K. D., Eduthan, N. P., Kinning, K. T., Andrysik, Z., Araya, P., et al. (2023) · Nature Genetics

Down syndrome and intellectual disability researchinterferon and immune responses

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Further understanding the connection between Alzheimer's disease and Down syndrome

Snyder, H. M., Bain, L. J., Brickman, A. M., Carrillo, M. C., Esbensen, A. J., Espinosa, J. M., Fernandez, F., Fortea, J., Hartley, S. L., Head, E., et al. (2020) · Alzheimer's & Dementia

Down syndrome and intellectual disability researchDementia and Cognitive Impairment Research

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Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition

Galbraith, M. D., Rachubinski, A. L., Smith, K. P., Araya, P., Waugh, K. A., Enriquez-Estrada, B., Worek, K., Granrath, R. E., Kinning, K. T., Paul Eduthan, N., et al. (2023) · Science Advances

Down syndrome and intellectual disability researchinterferon and immune responses

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JAK1 Inhibition Blocks Lethal Immune Hypersensitivity in a Mouse Model of Down Syndrome

Tuttle, K. D., Waugh, K. A., Araya, P., Minter, R., Orlicky, D. J., Ludwig, M., Andrysik, Z., Burchill, M. A., Tamburini, B. A. J., Sempeck, C., et al. (2020) · Cell Reports

interferon and immune responsesDown syndrome and intellectual disability research

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Multi-omics analysis reveals contextual tumor suppressive and oncogenic gene modules within the acute hypoxic response

Andrysik, Z., Bender, H., Galbraith, M. D., & Espinosa, J. M. (2021) · Nature Communications

Cancer, Hypoxia, and MetabolismMechanisms of cancer metastasis

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Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata

Rachubinski, A. L., Estrada, B. E., Norris, D., Dunnick, C. A., Boldrick, J. C., & Espinosa, J. M. (2019) · JAAD Case Reports

Hair Growth and DisordersImmunodeficiency and Autoimmune Disorders

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IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome

Araya, P., Kinning, K. T., Coughlan, C., Smith, K. P., Granrath, R. E., Enriquez-Estrada, B. A., Worek, K., Sullivan, K. D., Rachubinski, A. L., Wolter-Warmerdam, K., et al. (2022) · Cell Reports

Down syndrome and intellectual disability researchGrowth Hormone and Insulin-like Growth Factors

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JAK inhibition for treatment of psoriatic arthritis in Down syndrome

Pham, A. T., Rachubinski, A. L., Enriquez-Estrada, B., Worek, K., Griffith, M., & Espinosa, J. M. (2021) · Rheumatology

Spondyloarthritis Studies and TreatmentsPsoriasis: Treatment and Pathogenesis

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Sonic Hedgehog Pathway Modulation Normalizes Expression of Olig2 in Rostrally Patterned NPCs With Trisomy 21

Klein, J. A., Li, Z., Rampam, S., Cardini, J., Ayoub, A., Shaw, P., Rachubinski, A. L., Espinosa, J. M., Zeldich, E., & Haydar, T. F. (2022) · Frontiers in Cellular Neuroscience

Neurogenesis and neuroplasticity mechanismsDown syndrome and intellectual disability research

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Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model

Araya, P., Niemeyer, B., Schade, K., Dunn, L. N., Waugh, K., Busquet, N., Brindley, C., Brown, C., Winkler, C., Lyford, H. R., et al. (2025) · iScience

Alzheimer's disease research and treatmentsDown syndrome and intellectual disability research

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