De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ... Nature genetics 49 (2), 249-255, 2017 | 133 | 2017 |
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite C Dion, S Roche, C Laberthonnière, N Broucqsault, V Mariot, S Xue, ... Nucleic acids research 47 (6), 2822-2839, 2019 | 53 | 2019 |
FSHD2-and BAMS-associated mutations confer opposing effects on SMCHD1 function AD Gurzau, K Chen, S Xue, W Dai, IS Lucet, TTN Ly, B Reversade, ... Journal of Biological Chemistry 293 (25), 9841-9853, 2018 | 38 | 2018 |
Relating SMCHD1 structure to its function in epigenetic silencing AD Gurzau, ME Blewitt, PE Czabotar, JM Murphy, RW Birkinshaw Biochemical Society Transactions 48 (4), 1751-1763, 2020 | 19 | 2020 |
Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid–binding residues K Chen, RW Birkinshaw, AD Gurzau, I Wanigasuriya, R Wang, M Iminitoff, ... Science Signaling 13 (636), eaaz5599, 2020 | 15 | 2020 |
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease A Tapia del Fierro, B den Hamer, N Benetti, N Jansz, K Chen, T Beck, ... Nature Communications 14 (1), 5466, 2023 | 12 | 2023 |
SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization AD Gurzau, CR Horne, YF Mok, M Iminitoff, TA Willson, SN Young, ... Biochemical Journal 478 (13), 2555-2569, 2021 | 3 | 2021 |
MORC2 phosphorylation fine tunes its DNA compaction activity W Tan, JV Park, H Venugopal, JQ Lou, PS Dias, P Baldoni, T Dite, ... bioRxiv, 2024.06. 27.600912, 2024 | | 2024 |