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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: nella aa. 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.
24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency.
Turcu AF, Mallappa A, Nella AA, Chen X, Zhao L, Nanba AT, Byrd JB, Auchus RJ, Merke DP. Turcu AF, et al. Among authors: nella aa. Front Endocrinol (Lausanne). 2021 Nov 16;12:751191. doi: 10.3389/fendo.2021.751191. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34867794 Free PMC article. Clinical Trial.
Type 2 diabetes in prepubertal children.
Astudillo M, Tosur M, Castillo B, Rafaey A, Siller AF, Nieto J, Sisley S, McKay S, Nella AA, Balasubramanyam A, Bacha F, Redondo MJ. Astudillo M, et al. Among authors: nella aa. Pediatr Diabetes. 2021 Nov;22(7):946-950. doi: 10.1111/pedi.13254. Epub 2021 Sep 2. Pediatr Diabetes. 2021. PMID: 34363430
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR, Nilsson O, Nella AA, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA. Schernthaner-Reiter MH, et al. Among authors: nella aa. Eur J Pediatr. 2016 May;175(5):727-33. doi: 10.1007/s00431-015-2684-4. Epub 2016 Jan 21. Eur J Pediatr. 2016. PMID: 26795631 Free PMC article.
18 results