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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: huang kl. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
The Integrator complex cleaves nascent mRNAs to attenuate transcription.
Tatomer DC, Elrod ND, Liang D, Xiao MS, Jiang JZ, Jonathan M, Huang KL, Wagner EJ, Cherry S, Wilusz JE. Tatomer DC, et al. Among authors: huang kl. Genes Dev. 2019 Nov 1;33(21-22):1525-1538. doi: 10.1101/gad.330167.119. Epub 2019 Sep 17. Genes Dev. 2019. PMID: 31530651 Free PMC article.
Inositol hexakisphosphate is required for Integrator function.
Lin MH, Jensen MK, Elrod ND, Huang KL, Welle KA, Wagner EJ, Tong L. Lin MH, et al. Among authors: huang kl. Nat Commun. 2022 Sep 30;13(1):5742. doi: 10.1038/s41467-022-33506-3. Nat Commun. 2022. PMID: 36180473 Free PMC article.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
de Prisco N, Ford C, Elrod ND, Lee W, Tang LC, Huang KL, Lin A, Ji P, Jonnakuti VS, Boyle L, Cabaj M, Botta S, Õunap K, Reinson K, Wojcik MH, Rosenfeld JA, Bi W, Tveten K, Prescott T, Gerstner T, Schroeder A, Fong CT, George-Abraham JK, Buchanan CA, Hanson-Khan A, Bernstein JA, Nella AA, Chung WK, Brandt V, Jovanovic M, Targoff KL, Yalamanchili HK, Wagner EJ, Gennarino VA. de Prisco N, et al. Among authors: huang kl. Sci Adv. 2023 Feb 17;9(7):eade4814. doi: 10.1126/sciadv.ade4814. Epub 2023 Feb 17. Sci Adv. 2023. PMID: 36800428 Free PMC article.
654 results