Genetics of Cushing’s disease: from the lab to clinical practice

[1]  M. Buchfelder,et al.  Improved pasireotide response in USP8 mutant corticotroph tumours in vitro. , 2022, Endocrine-related cancer.

[2]  M. Korbonits,et al.  Molecular genetic testing in the management of pituitary disease , 2022, Clinical endocrinology.

[3]  N. Thomas,et al.  USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing’s disease , 2021, Endocrine.

[4]  Shi Chen,et al.  Effect of Three NR3C1 mutations in Pathogenesis of Pituitary ACTH Adenoma. , 2021, Endocrinology.

[5]  W. Foulkes,et al.  Clinical Outcomes and Complications of Pituitary Blastoma. , 2020, The Journal of clinical endocrinology and metabolism.

[6]  M. Mahajan,et al.  USP8 and TP53 drivers are associated with CNV in a corticotroph adenoma cohort enriched for aggressive tumors. , 2020, The Journal of clinical endocrinology and metabolism.

[7]  M. Korbonits,et al.  Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations , 2020, The Journal of clinical endocrinology and metabolism.

[8]  J. Bertherat,et al.  Pangenomic Classification of Pituitary Neuroendocrine Tumors. , 2019, Cancer cell.

[9]  T. Strom,et al.  Driver mutations in USP8 wild-type Cushing’s disease , 2019, Neuro-oncology.

[10]  Hai Yan,et al.  Identification of recurrent USP48 and BRAF mutations in Cushing’s disease , 2018, Nature Communications.

[11]  B. Fox,et al.  The Epigenomic Landscape of Pituitary Adenomas Reveals Specific Alterations and Differentiates Among Acromegaly, Cushing's Disease and Endocrine-Inactive Subtypes , 2018, Clinical Cancer Research.

[12]  M. Theodoropoulou,et al.  Genetics of Cushing's disease , 2018, Clinical endocrinology.

[13]  J. Honegger,et al.  Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor. , 2018, European journal of endocrinology.

[14]  F. Faucz,et al.  Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease , 2017, The Journal of clinical endocrinology and metabolism.

[15]  Lane,et al.  Loss-of-function mutations in the CABLES 1 gene are a novel cause of Cushing ’ s disease , 2017 .

[16]  T. Wieland,et al.  Mutations in the deubiquitinase gene USP8 cause Cushing's disease , 2014, Nature Genetics.

[17]  M. Côrrea-Giannella,et al.  Mutation and genomic amplification of the PIK3CA proto-oncogene in pituitary adenomas , 2012, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.

[18]  M. Xing,et al.  Frequent mutations and amplifications of the PIK3CA gene in pituitary tumors. , 2008, Endocrine-related cancer.

[19]  H. Cushing.  The Basophil Adenomas of the Pituitary Body and Their Clinical Manifestations (Pituitary Basophilism) , 1964 .