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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, Kremser L, Sarg B, Edenhofer F, Geley S, de Araujo MEG, Huettenhofer A. Heimdörfer D, et al. Am J Hum Genet. 2024 Jul 11;111(7):1383-1404. doi: 10.1016/j.ajhg.2024.05.023. Epub 2024 Jun 21. Am J Hum Genet. 2024. PMID: 38908375 Free PMC article.
The negative adipogenesis regulator Dlk1 is transcriptionally regulated by Ifrd1 (TIS7) and translationally by its orthologue Ifrd2 (SKMc15).
Vietor I, Cikes D, Piironen K, Vasakou T, Heimdörfer D, Gstir R, Erlacher MD, Tancevski I, Eller P, Demetz E, Hess MW, Kuhn V, Degenhart G, Rozman J, Klingenspor M, Hrabe de Angelis M, Valovka T, Huber LA. Vietor I, et al. Among authors: heimdorfer d. Elife. 2023 Aug 21;12:e88350. doi: 10.7554/eLife.88350. Elife. 2023. PMID: 37603466 Free PMC article.
Invasive candidiasis: future directions in non-culture based diagnosis.
Posch W, Heimdörfer D, Wilflingseder D, Lass-Flörl C. Posch W, et al. Among authors: heimdorfer d. Expert Rev Anti Infect Ther. 2017 Sep;15(9):829-838. doi: 10.1080/14787210.2017.1370373. Epub 2017 Sep 7. Expert Rev Anti Infect Ther. 2017. PMID: 28829207 Review.