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MEF2C regulates NK cell effector functions through control of lipid metabolism.
Li JH, Zhou A, Lee CD, Shah SN, Ji JH, Senthilkumar V, Padilla ET, Ball AB, Feng Q, Bustillos CG, Riggan L, Greige A, Divakaruni AS, Annese F, Cooley Coleman JA, Skinner SA, Cowan CW, O'Sullivan TE. Li JH, et al. Among authors: skinner sa. Nat Immunol. 2024 May;25(5):778-789. doi: 10.1038/s41590-024-01811-2. Epub 2024 Apr 8. Nat Immunol. 2024. PMID: 38589619
When Rett syndrome is due to genes other than MECP2.
Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL. Percy AK, et al. Among authors: skinner sa. Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021. Transl Sci Rare Dis. 2018. PMID: 29682453 Free PMC article.
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: skinner sa. Front Integr Neurosci. 2020 Feb 25;14:7. doi: 10.3389/fnint.2020.00007. eCollection 2020. Front Integr Neurosci. 2020. PMID: 32161522 Free PMC article.
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Harrington AJ, Bridges CM, Berto S, Blankenship K, Cho JY, Assali A, Siemsen BM, Moore HW, Tsvetkov E, Thielking A, Konopka G, Everman DB, Scofield MD, Skinner SA, Cowan CW. Harrington AJ, et al. Among authors: skinner sa. Biol Psychiatry. 2020 Sep 15;88(6):488-499. doi: 10.1016/j.biopsych.2020.03.011. Epub 2020 Mar 31. Biol Psychiatry. 2020. PMID: 32418612 Free PMC article.
Tremors: A concept analysis.
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Among authors: skinner sa. Nurs Open. 2021 Sep;8(5):2419-2428. doi: 10.1002/nop2.840. Epub 2021 Apr 2. Nurs Open. 2021. PMID: 33797860 Free PMC article.
Clinical findings from the landmark MEF2C-related disorders natural history study.
Cooley Coleman JA, Sarasua SM, Moore HW, Boccuto L, Cowan CW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Among authors: skinner sa. Mol Genet Genomic Med. 2022 Jun;10(6):e1919. doi: 10.1002/mgg3.1919. Epub 2022 Apr 13. Mol Genet Genomic Med. 2022. PMID: 35416405 Free PMC article. Review.
135 results