Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE USP-8 may be a new treatment target in Cushing's disease. 31666445 2020
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Mutations in the ubiquitin specific peptidase 8 gene have been recently identified in functional sporadic corticotroph adenomas causing CD. 30130808 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE All evaluated proteins [USP8, arginine vasopressin receptor 1b and 2, corticotropin-releasing hormone receptor, cAMP response element-binding protein (CREB), p27/kip1, cyclin E, heat shock protein 90 (HSP90), orphan nuclear receptor 4, epidermal growth factor receptor, histone deacetylase 2, glucocorticoid receptor, cyclin-dependent kinase 5 and Abelson murine leukemia viral oncogene homolog 1 enzyme substrate 1] were known to be deregulated in CD. 30844069 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE We report a unique patient with a germline USP8 mutation who presented with CD and a constellation of other findings that constitute an intriguing genetic syndrome. 31162547 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE In human patients, somatic mutations in USP8 were identified as the underlying cause of adrenocorticotropic hormone (ACTH) releasing pituitary adenomas causing Cushing's disease (CD). 31845722 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Driver mutations in USP8 wild-type Cushing's disease. 31222332 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Further prospective studies using a systematic protocol will provide more consistent information about the influence of the corticotropinomas with USP8-mutated alleles on the phenotype, responses to treatment and outcome of patients with CD. 31273566 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Conversely, recurrence of CD occurred in 23% of USP8-mutated patients and in 13% of patients with wild-type adenoma. 30315484 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Results We found USP8 mutation in 15 patients with CD and 4 SCAs. 31581124 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE This mutational hotspot hyperactivates USP8, rescuing epidermal growth factor receptor (EGFR) from lysosomal degradation and ensuring its sustained signaling in Cushing's disease. 30880293 2019
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE Inhibition of USP8 or its downstream signalling pathways could represent a new therapeutic approach for the management of CD. 28850717 2018
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE The USP8 mutational status could predict remission in patients with CD, so our objective was to correlate the presence of somatic USP8 mutations with the rate of recurrence after transsphenoidal surgery (TSS) retrospectively. 29957855 2018
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE The new discoveries showcase a novel mechanism responsible for corticotroph tumorigenesis and ACTH hypersecretion and highlight USP8 and its downstream signaling pathways as potential promising pharmacologic targets for the management of Cushing disease. 30084690 2018
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Somatic mutations in the ubiquitin-specific protease 8 (<i>USP8</i>) gene are frequent in corticotroph tumors causing Cushing's disease (CD). 28982703 2018
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Furthermore, we analyze the effect of USP8 mutations identified in CD on binding to 14-3-3. 29473952 2018
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease UNIPROT The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric patients with CD. 28505279 2017
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE The USP8 gene was fully sequenced in both germline and tumor DNA samples from 42 pediatric patients with CD. 28505279 2017
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Our objective was to determine the impact of USP8 mutations on the clinicopathological features of CD. 26578638 2016
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Mutations in USP8 have been identified in 35-62 % of functional sporadic corticotroph adenomas causing Cushing's disease, but not in any other type of pituitary tumor. 26208471 2016
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE Taken together, somatic gain-of-function USP8 mutations are common and contribute to ACTH overproduction in Cushing's disease. 25675982 2015
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE The pathogenesis of Cushing's disease is poorly understood; two recent reports identifying somatic mutations in USP8 in pituitary corticotroph tumors provide exciting advances in this field. 25930709 2015
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease BEFREE This review presents new developments in the study of the genetics of CD and focuses on the USP8-EGFR system as trigger and target of corticotroph tumorigenesis. 26012588 2015
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE In summary, our data show that dominant mutations in USP8 cause Cushing's disease via activation of EGF receptor signaling. 25485838 2015
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 GeneticVariation disease BEFREE We found somatic mutations in USP8 in 48 (36%) pituitary adenomas from patients with Cushing's disease but in none of 11 silent corticotropinomas. 25942478 2015
Entrez Id: 9101
Gene Symbol: USP8
USP8
0.800 Biomarker disease CTD_human In summary, our data show that dominant mutations in USP8 cause Cushing's disease via activation of EGF receptor signaling. 25485838 2015