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A Highly Conserved Shh Enhancer Coordinates Hypothalamic and Craniofacial Development.
Crane-Smith Z, Schoenebeck J, Graham KA, Devenney PS, Rose L, Ditzell M, Anderson E, Thomson JI, Klenin N, Kurrasch DM, Lettice LA, Hill RE. Crane-Smith Z, et al. Front Cell Dev Biol. 2021 Apr 1;9:595744. doi: 10.3389/fcell.2021.595744. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33869166 Free PMC article.
Cohesin is required for long-range enhancer action at the Shh locus.
Kane L, Williamson I, Flyamer IM, Kumar Y, Hill RE, Lettice LA, Bickmore WA. Kane L, et al. Nat Struct Mol Biol. 2022 Sep;29(9):891-897. doi: 10.1038/s41594-022-00821-8. Epub 2022 Sep 12. Nat Struct Mol Biol. 2022. PMID: 36097291 Free PMC article.
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.
Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N. Ushiki A, et al. Nat Commun. 2021 Apr 16;12(1):2282. doi: 10.1038/s41467-021-22470-z. Nat Commun. 2021. PMID: 33863876 Free PMC article.
Ubiquitin-protein ligase Ubr5 cooperates with hedgehog signalling to promote skeletal tissue homeostasis.
Mellis D, Staines KA, Peluso S, Georgiou IC, Dora N, Kubiak M, Van't Hof R, Grillo M, Farquharson C, Kinsella E, Thornburn A, Ralston SH, Salter DM, Riobo-Del Galdo NA, Hill RE, Ditzel M. Mellis D, et al. PLoS Genet. 2021 Apr 5;17(4):e1009275. doi: 10.1371/journal.pgen.1009275. eCollection 2021 Apr. PLoS Genet. 2021. PMID: 33819267 Free PMC article.