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Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M. Reincke M, et al. Among authors: buchfelder m. Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8. Nat Genet. 2015. PMID: 25485838
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.
Perez-Rivas LG, Theodoropoulou M, Ferraù F, Nusser C, Kawaguchi K, Stratakis CA, Faucz FR, Wildemberg LE, Assié G, Beschorner R, Dimopoulou C, Buchfelder M, Popovic V, Berr CM, Tóth M, Ardisasmita AI, Honegger J, Bertherat J, Gadelha MR, Beuschlein F, Stalla G, Komada M, Korbonits M, Reincke M. Perez-Rivas LG, et al. Among authors: buchfelder m. J Clin Endocrinol Metab. 2015 Jul;100(7):E997-1004. doi: 10.1210/jc.2015-1453. Epub 2015 May 5. J Clin Endocrinol Metab. 2015. PMID: 25942478 Free PMC article.
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
Pérez-Rivas LG, Theodoropoulou M, Puar TH, Fazel J, Stieg MR, Ferraù F, Assié G, Gadelha MR, Deutschbein T, Fragoso MC, Kusters B, Saeger W, Honegger J, Buchfelder M, Korbonits M, Bertherat J, Stalla GK, Hermus AR, Beuschlein F, Reincke M. Pérez-Rivas LG, et al. Among authors: buchfelder m. Eur J Endocrinol. 2018 Jan;178(1):57-63. doi: 10.1530/EJE-17-0634. Epub 2017 Oct 5. Eur J Endocrinol. 2018. PMID: 28982703
Impact of USP8 Gene Mutations on Protein Deregulation in Cushing Disease.
Weigand I, Knobloch L, Flitsch J, Saeger W, Monoranu CM, Höfner K, Herterich S, Rotermund R, Ronchi CL, Buchfelder M, Glatzel M, Hagel C, Fassnacht M, Deutschbein T, Sbiera S. Weigand I, et al. Among authors: buchfelder m. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2535-2546. doi: 10.1210/jc.2018-02564. J Clin Endocrinol Metab. 2019. PMID: 30844069
Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.
Ronchi CL, Peverelli E, Herterich S, Weigand I, Mantovani G, Schwarzmayr T, Sbiera S, Allolio B, Honegger J, Appenzeller S, Lania AG, Reincke M, Calebiro D, Spada A, Buchfelder M, Flitsch J, Strom TM, Fassnacht M. Ronchi CL, et al. Among authors: buchfelder m. Eur J Endocrinol. 2016 Mar;174(3):363-72. doi: 10.1530/EJE-15-1064. Epub 2015 Dec 23. Eur J Endocrinol. 2016. PMID: 26701869 Free article.
Improved pasireotide response in USP8 mutant corticotroph tumours in vitro.
Albani A, Perez-Rivas LG, Tang S, Simon J, Lucia KE, Colón-Bolea P, Schopohl J, Roeber S, Buchfelder M, Rotermund R, Flitsch J, Thorsteinsdottir J, Herms J, Stalla G, Reincke M, Theodoropoulou M. Albani A, et al. Among authors: buchfelder m. Endocr Relat Cancer. 2022 Jun 29;29(8):503-511. doi: 10.1530/ERC-22-0088. Print 2022 Aug 1. Endocr Relat Cancer. 2022. PMID: 35686696
TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome.
Perez-Rivas LG, Simon J, Albani A, Tang S, Roeber S, Assié G, Deutschbein T, Fassnacht M, Gadelha MR, Hermus AR, Stalla GK, Tichomirowa MA, Rotermund R, Flitsch J, Buchfelder M, Nasi-Kordhishti I, Honegger J, Thorsteinsdottir J, Saeger W, Herms J, Reincke M, Theodoropoulou M. Perez-Rivas LG, et al. Among authors: buchfelder m. Acta Neuropathol Commun. 2022 Sep 19;10(1):139. doi: 10.1186/s40478-022-01437-1. Acta Neuropathol Commun. 2022. PMID: 36123588 Free PMC article.
The USP8 mutational status may predict long-term remission in patients with Cushing's disease.
Albani A, Pérez-Rivas LG, Dimopoulou C, Zopp S, Colón-Bolea P, Roeber S, Honegger J, Flitsch J, Rachinger W, Buchfelder M, Stalla GK, Herms J, Reincke M, Theodoropoulou M. Albani A, et al. Among authors: buchfelder m. Clin Endocrinol (Oxf). 2018 Jun 29. doi: 10.1111/cen.13802. Online ahead of print. Clin Endocrinol (Oxf). 2018. PMID: 29957855
605 results