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USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing’s disease

  • Published:2021-10-18 Issue:2 Volume:75 Page:549-559
  • ISSN:1355-008X
  • Container-title:Endocrine
  • language:en
  • Short-container-title:Endocrine

Author:

Abraham Ananth P.,Pai Rekha,Beno Daniel L.,Chacko Geeta,Asha Hesarghatta Shyamasunder,Rajaratnam Simon,Kapoor Nitin,Thomas Nihal,Chacko Ari G.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. M. Reincke, S. Sbiera, A. Hayakawa, M. Theodoropoulou, A. Osswald, F. Beuschlein, T. Meitinger, E. Mizuno-Yamasaki, K. Kawaguchi, Y. Saeki, K. Tanaka, T. Wieland, E. Graf, W. Saeger, C.L. Ronchi, B. Allolio, M. Buchfelder, T.M. Strom, M. Fassnacht, M. Komada, Mutations in the deubiquitinase gene USP8 cause Cushing’s disease. Nat. Genet. 47, 31–38 (2014). https://doi.org/10.1038/ng.3166

2. L.G. Perez-Rivas, M. Theodoropoulou, F. Ferraù, C. Nusser, K. Kawaguchi, C.A. Stratakis, F. Rueda Faucz, L.E. Wildemberg, G. Assié, R. Beschorner, C. Dimopoulou, M. Buchfelder, V. Popovic, C.M. Berr, M. Tóth, A.I. Ardisasmita, J. Honegger, J. Bertherat, M.R. Gadelha, F. Beuschlein, G. Stalla, M. Komada, M. Korbonits, M. Reincke, The gene of the ubiquitin-specific protease 8 is frequently mutated in adenomas causing Cushing’s disease. J. Clin. Endocrinol. Metab. 100, E997–1004 (2015). https://doi.org/10.1210/jc.2015-1453

3. Z.-Y. Ma, Z.-J. Song, J.-H. Chen, Y.-F. Wang, S.-Q. Li, L.-F. Zhou, Y. Mao, Y.-M. Li, R.-G. Hu, Z.-Y. Zhang, H.-Y. Ye, M. Shen, X.-F. Shou, Z.-Q. Li, H. Peng, Q.-Z. Wang, D.-Z. Zhou, X.-L. Qin, J. Ji, J. Zheng, H. Chen, Y. Wang, D.-Y. Geng, W.-J. Tang, C.-W. Fu, Z.-F. Shi, Y.-C. Zhang, Z. Ye, W.-Q. He, Q.-L. Zhang, Q.-S. Tang, R. Xie, J.-W. Shen, Z.-J. Wen, J. Zhou, T. Wang, S. Huang, H.-J. Qiu, N.-D. Qiao, Y. Zhang, L. Pan, W.-M. Bao, Y.-C. Liu, C.-X. Huang, Y.-Y. Shi, Y. Zhao, Recurrent gain-of-function USP8 mutations in Cushing’s disease. Cell Res. 25, 306–317 (2015). https://doi.org/10.1038/cr.2015.20

4. C. Ballmann, A. Thiel, H.E. Korah, A.-C. Reis, W. Saeger, S. Stepanow, K. Köhrer, G. Reifenberger, C.B. Knobbe-Thomsen, U.J. Knappe, U.I. Scholl, USP8 mutations in Pituitary Cushing adenomas—Targeted analysis by next-generation sequencing. J. Endocr. Soc. 2, 266–278 (2018). https://doi.org/10.1210/js.2017-00364

5. M. Losa, P. Mortini, A. Pagnano, M. Detomas, M.F. Cassarino, F. Pecori Giraldi, Clinical characteristics and surgical outcome in USP8-mutated human adrenocorticotropic hormone-secreting pituitary adenomas. Endocrine 63, 240–246 (2018). https://doi.org/10.1007/s12020-018-1776-0

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