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RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.

Bandi V, Rennie M, Koch I, Gill P, Pacheco OD, Berg AD, Cui H, Ward DI, Bustos F
HGG Adv. 2024 Oct 31;6(1):100378. doi: 10.1016/j.xhgg.2024.100378. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
232239pCAGGS puro GFP-REX1-IRES-mCherryMammalian expression of REX1-GFP-IRES-mCherry
232240pCAGGS puro GFP-REX1[degron]-IRES-mCherryMammalian expression of REX1[degron]-GFP-IRES-mCherry
232241pGEX6P1 human RLIM N581KProtein expression of GST-human RLIM N581K
232242pCAGGS puro human RLIM N581KMammalian expression of Human RLIM N581K
232243pCAGGS puro human-GFP-RLIM-IRES-mCherryMammalian expression of RLIM-GFP-IRES-mCherry
232244pCAGGS puro human-GFP-N581K RLIM-IRES-mCherryMammalian expression of N581K RLIM-GFP-IRES-mCherry
232245pCAGGS puro -GFP-I77P I78P REX1-IRES-mCherry Mammalian expression of I77P I78P REX1-GFP-IRES-mCherry
232246pCAGGS puro -GFP-delta73-82 REX1-IRES-mCherry Mammalian expression of delta73-82 REX1-GFP-IRES-mCherry
232247pCAGGS puro-GFP-BamHI-IRES-mCherryAcGFP1-BamHI-IRES-mCherry empty backbone

Antibodies from Article