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Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Rodan LH, et al. Among authors: ni m. Am J Med Genet A. 2018 Dec;176(12):2554-2560. doi: 10.1002/ajmg.a.60677. Epub 2018 Nov 26. Am J Med Genet A. 2018. PMID: 30475435
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.
Ni M, Solmonson A, Pan C, Yang C, Li D, Notzon A, Cai L, Guevara G, Zacharias LG, Faubert B, Vu HS, Jiang L, Ko B, Morales NM, Pei J, Vale G, Rakheja D, Grishin NV, McDonald JG, Gotway GK, McNutt MC, Pascual JM, DeBerardinis RJ. Ni M, et al. Cell Rep. 2019 Apr 30;27(5):1376-1386.e6. doi: 10.1016/j.celrep.2019.04.005. Cell Rep. 2019. PMID: 31042466 Free PMC article.
Loss of EZH2 Reprograms BCAA Metabolism to Drive Leukemic Transformation.
Gu Z, Liu Y, Cai F, Patrick M, Zmajkovic J, Cao H, Zhang Y, Tasdogan A, Chen M, Qi L, Liu X, Li K, Lyu J, Dickerson KE, Chen W, Ni M, Merritt ME, Morrison SJ, Skoda RC, DeBerardinis RJ, Xu J. Gu Z, et al. Among authors: ni m. Cancer Discov. 2019 Sep;9(9):1228-1247. doi: 10.1158/2159-8290.CD-19-0152. Epub 2019 Jun 12. Cancer Discov. 2019. PMID: 31189531 Free PMC article.
Compartmentalized metabolism supports midgestation mammalian development.
Solmonson A, Faubert B, Gu W, Rao A, Cowdin MA, Menendez-Montes I, Kelekar S, Rogers TJ, Pan C, Guevara G, Tarangelo A, Zacharias LG, Martin-Sandoval MS, Do D, Pachnis P, Dumesnil D, Mathews TP, Tasdogan A, Pham A, Cai L, Zhao Z, Ni M, Cleaver O, Sadek HA, Morrison SJ, DeBerardinis RJ. Solmonson A, et al. Among authors: ni m. Nature. 2022 Apr;604(7905):349-353. doi: 10.1038/s41586-022-04557-9. Epub 2022 Apr 6. Nature. 2022. PMID: 35388219 Free PMC article.
1,753 results