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Page 1
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. Among authors: sbiera s. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.
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: sbiera s. Nat Genet. 2015 Jan;47(1):31-8. doi: 10.1038/ng.3166. Epub 2014 Dec 8. Nat Genet. 2015. PMID: 25485838
The New Molecular Landscape of Cushing's Disease.
Sbiera S, Deutschbein T, Weigand I, Reincke M, Fassnacht M, Allolio B. Sbiera S, et al. Trends Endocrinol Metab. 2015 Oct;26(10):573-583. doi: 10.1016/j.tem.2015.08.003. Trends Endocrinol Metab. 2015. PMID: 26412158 Review.
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: sbiera s. 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.
Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.
Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, Robertson AG, Wu HT, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA; Cancer Genome Atlas Research Network; Hammer GD, Giordano TJ, Verhaak RGW. Zheng S, et al. Cancer Cell. 2016 May 9;29(5):723-736. doi: 10.1016/j.ccell.2016.04.002. Cancer Cell. 2016. PMID: 27165744 Free PMC article.
Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.
Ronchi CL, Di Dalmazi G, Faillot S, Sbiera S, Assié G, Weigand I, Calebiro D, Schwarzmayr T, Appenzeller S, Rubin B, Waldmann J, Scaroni C, Bartsch DK, Mantero F, Mannelli M, Kastelan D, Chiodini I, Bertherat J, Reincke M, Strom TM, Fassnacht M, Beuschlein F; European Network for the Study of Adrenocortical Tumors (ENSAT). Ronchi CL, et al. Among authors: sbiera s. J Clin Endocrinol Metab. 2016 Sep;101(9):3526-38. doi: 10.1210/jc.2016-1586. Epub 2016 Jul 7. J Clin Endocrinol Metab. 2016. PMID: 27389594
Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma.
Sbiera S, Sbiera I, Ruggiero C, Doghman-Bouguerra M, Korpershoek E, de Krijger RR, Ettaieb H, Haak H, Volante M, Papotti M, Reimondo G, Terzolo M, Luconi M, Nesi G, Mannelli M, Libé R, Ragazzon B, Assié G, Bertherat J, Altieri B, Fadda G, Rogowski-Lehmann N, Reincke M, Beuschlein F, Fassnacht M, Lalli E. Sbiera S, et al. Among authors: sbiera i. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3491-3498. doi: 10.1210/jc.2017-00984. J Clin Endocrinol Metab. 2017. PMID: 28911143 Free article.
Driver mutations in USP8 wild-type Cushing's disease.
Sbiera S, Perez-Rivas LG, Taranets L, Weigand I, Flitsch J, Graf E, Monoranu CM, Saeger W, Hagel C, Honegger J, Assie G, Hermus AR, Stalla GK, Herterich S, Ronchi CL, Deutschbein T, Reincke M, Strom TM, Popov N, Theodoropoulou M, Fassnacht M. Sbiera S, et al. Neuro Oncol. 2019 Oct 9;21(10):1273-1283. doi: 10.1093/neuonc/noz109. Neuro Oncol. 2019. PMID: 31222332 Free PMC article.
RNA Sequencing and Somatic Mutation Status of Adrenocortical Tumors: Novel Pathogenetic Insights.
Di Dalmazi G, Altieri B, Scholz C, Sbiera S, Luconi M, Waldman J, Kastelan D, Ceccato F, Chiodini I, Arnaldi G, Riester A, Osswald A, Beuschlein F, Sauer S, Fassnacht M, Appenzeller S, Ronchi CL. Di Dalmazi G, et al. Among authors: sbiera s. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa616. doi: 10.1210/clinem/dgaa616. J Clin Endocrinol Metab. 2020. PMID: 32875319 Free article.
81 results