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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: munro kj. Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. Am J Hum Genet. 2025. PMID: 39701103 Free article.
Incidence of diabetes mellitus following hospitalisation for COVID-19 in the United Kingdom: A prospective observational study.
Tyrer F, Gharibzadeh S, Gillies C, Lawson C, Routen A, Islam N, Razieh C, Zaccardi F, Yates T, Davies MJ, Brightling CE, Chalmers JD, Docherty AB, Elneima O, Evans RA, Greening NJ, Harris VC, Harrison EM, Ho LP, Horsley A, Houchen-Wolloff L, Leavy OC, Lone NI, Marks M, McAuley HJC, Poinasamy K, Quint JK, Raman B, Richardson M, Saunders R, Sereno M, Shikotra A, Singapuri A, Wain LV, Khunti K; PHOSP‐COVID Study Collaborative Group. Tyrer F, et al. Diabetes Obes Metab. 2025 Feb;27(2):767-776. doi: 10.1111/dom.16071. Epub 2024 Nov 20. Diabetes Obes Metab. 2025. PMID: 39563623 Free PMC article.
368 results