P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter

Authors: Elliott Swanson, Helmut Grasberger, Alexandra Dumitrescu, Xiao-Hui Liao, Roy Weiss, Panudda Srichomkwun, Theodora Pappa, Junfeng Cheng, Takashi Yoshimura, Phillip Hoffmann, Monica Malheiros França, Rebecca Tagett, Kazumichi Onigata, Sabine Costagliola, Jane Ranchalis, Shane Neph, Mitchell Vollger, Jessica Chong, Michael Bamshad, Guillaume Smits, Gilbert Vassart, Samuel Refetoff, Andrew Stergachis

Source: Genetics in Medicine Open, Vol 2, Iss , Pp 101126- (2024)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002723; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/9e889d7787e4427bac6f9857c7a6e9e4

P317: Gene therapy base editors reshape single-molecule chromatin architecture of γ-globin promoters

Authors: Stephanie Bohaczuk, Chang Li, Danilo Dubocanin, Ben Mallory, Mitchell Vollger, Andre Lieber, Andrew Stergachis

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100345- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442300345X; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/b54b44f95e034650ba6557e6d88d2fff