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2012 1
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19 results

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Page 1
SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.
Tapia Del Fierro A, den Hamer B, Benetti N, Jansz N, Chen K, Beck T, Vanyai H, Gurzau AD, Daxinger L, Xue S, Ly TTN, Wanigasuriya I, Iminitoff M, Breslin K, Oey H, Krom YD, van der Hoorn D, Bouwman LF, Johanson TM, Ritchie ME, Gouil QA, Reversade B, Prin F, Mohun T, van der Maarel SM, McGlinn E, Murphy JM, Keniry A, de Greef JC, Blewitt ME. Tapia Del Fierro A, et al. Among authors: xue s. Nat Commun. 2023 Sep 25;14(1):5466. doi: 10.1038/s41467-023-40992-6. Nat Commun. 2023. PMID: 37749075 Free PMC article.
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F. Laberthonnière C, et al. Among authors: xue s. Nucleic Acids Res. 2023 Aug 11;51(14):7269-7287. doi: 10.1093/nar/gkad523. Nucleic Acids Res. 2023. PMID: 37334829 Free PMC article.
A novel variant in AFF3 underlying isolated syndactyly.
Khan H, Koh G, Chong AEQ, Zahid M, Hussain S, Ali H, Ahmad W, Xue S. Khan H, et al. Among authors: xue s. Clin Genet. 2023 Mar;103(3):341-345. doi: 10.1111/cge.14254. Epub 2022 Nov 1. Clin Genet. 2023. PMID: 36273379
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome.
Khan H, Chong AEQ, Bilal M, Nawaz S, Abdullah, Abbasi S, Hussain A, Hussain S, Ullah I, Ali H, Xue S, Ahmad W. Khan H, et al. Among authors: xue s. J Hum Genet. 2022 May;67(5):253-259. doi: 10.1038/s10038-021-00995-x. Epub 2021 Dec 3. J Hum Genet. 2022. PMID: 34857885
Direct identification of A-to-I editing sites with nanopore native RNA sequencing.
Nguyen TA, Heng JWJ, Kaewsapsak P, Kok EPL, Stanojević D, Liu H, Cardilla A, Praditya A, Yi Z, Lin M, Aw JGA, Ho YY, Peh KLE, Wang Y, Zhong Q, Heraud-Farlow J, Xue S, Reversade B, Walkley C, Ho YS, Šikić M, Wan Y, Tan MH. Nguyen TA, et al. Among authors: xue s. Nat Methods. 2022 Jul;19(7):833-844. doi: 10.1038/s41592-022-01513-3. Epub 2022 Jun 13. Nat Methods. 2022. PMID: 35697834
Gene- and Species-Specific Hox mRNA Translation by Ribosome Expansion Segments.
Leppek K, Fujii K, Quade N, Susanto TT, Boehringer D, Lenarčič T, Xue S, Genuth NR, Ban N, Barna M. Leppek K, et al. Among authors: xue s. Mol Cell. 2020 Dec 17;80(6):980-995.e13. doi: 10.1016/j.molcel.2020.10.023. Epub 2020 Nov 16. Mol Cell. 2020. PMID: 33202249 Free PMC article.
19 results