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Page 1
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11.
Am J Hum Genet. 2023.
PMID: 37827158
Free PMC article.
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.
Liao JZ, Chung HL, Shih C, Wong KKL, Dutta D, Nil Z, Burns CG, Kanca O, Park YJ, Zuo Z, Marcogliese PC, Sew K, Bellen HJ, Verheyen EM.
Liao JZ, et al. Among authors: nil z.
Nat Commun. 2024 Apr 18;15(1):3326. doi: 10.1038/s41467-024-47623-8.
Nat Commun. 2024.
PMID: 38637532
Free PMC article.
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Amyloid-like Assembly Activates a Phosphatase in the Developing Drosophila Embryo.
Nil Z, Hervás R, Gerbich T, Leal P, Yu Z, Saraf A, Sardiu M, Lange JJ, Yi K, Unruh J, Slaughter B, Si K.
Nil Z, et al.
Cell. 2019 Sep 5;178(6):1403-1420.e21. doi: 10.1016/j.cell.2019.08.019.
Cell. 2019.
PMID: 31491385
Free article.
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Amyloid-like Assembly Activates a Phosphatase in the Developing Drosophila Embryo.
Nil Z, Hervás R, Gerbich T, Leal P, Yu Z, Saraf A, Sardiu M, Lange JJ, Yi K, Unruh J, Slaughter B, Si K.
Nil Z, et al.
Cell. 2019 Oct 17;179(3):801. doi: 10.1016/j.cell.2019.09.033.
Cell. 2019.
PMID: 31626777
Free article.
No abstract available.
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK.
Goodman LD, et al. Among authors: nil z.
Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26.
Am J Hum Genet. 2021.
PMID: 34314705
Free PMC article.
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