Associated Papers
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.
Zainab R et al.
Pituitary, 2025
Prevalence and clinical associations of USP8 variants in corticotroph tumours: a systematic review and aggregate data meta-analysis of 2171 cases.
Perez-Rivas LG et al.
European Journal of Endocrinology, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
Using digital PCR to investigate the prevalence of KRAS variants in pituitary tumours.
Aran V et al.
Journal of Neuroendocrinology, 2025
An Update on the Genetic Drivers of Corticotroph Tumorigenesis.
Hernández-Ramírez LC et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2024
USP8 Mutations Associated with Cushing's Disease Alter Protein Structure Dynamics.
Petukhova N et al.
International Journal of Molecular Sciences, 2024
Novel Drop-off PCR Assay for USP8 Hotspot Variant Detection in Corticotroph Tumors.
Miranda RL et al.
Endocrine Pathology, 2024
A long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours.
Miao H et al.
Clinical Endocrinology, 2024
Targeted analysis of Ubiquitin-Specific Peptidase (USP8) in a population of Iranian people with Cushing's disease and a systematic review of the literature.
Hashemi-Madani N et al.
Bmc Endocrine Disorders, 2024
Relevance of mutations in protein deubiquitinases genes and TP53 in corticotroph pituitary tumors.
Pękul M et al.
Frontiers in Endocrinology, 2024
Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.
Rebollar-Vega RG et al.
Archives of Medical Research, 2023
Pituitary Tumorigenesis-Implications for Management.
Vamvoukaki R et al.
Medicina (kaunas, Lithuania), 2023
The Spectrum of Familial Pituitary Neuroendocrine Tumors.
Armeni E et al.
Endocrine Pathology, 2023
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Trivellin G et al.
Frontiers in Endocrinology, 2023
Improved pasireotide response in USP8 mutant corticotroph tumours in vitro.
Albani A et al.
Endocrine-related Cancer, 2022
Concurrent mutations of germline GPR101 and somatic USP8 in a pediatric giant pituitary ACTH adenoma: a case report.
Bao XD et al.
Bmc Endocrine Disorders, 2022
P720R USP8 Mutation Is Associated with a Better Responsiveness to Pasireotide in ACTH-Secreting PitNETs.
Treppiedi D et al.
Cancers, 2022
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Labello JH et al.
Archives of Endocrinology and Metabolism, 2022
USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's disease.
Abraham AP et al.
Endocrine, 2022
Pituitary Tumors: Genetic and Molecular Factors Underlying Pathogenesis and Clinical Behavior.
Spada A et al.
Neuroendocrinology, 2022
Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel USP8 Gene Variant.
Treppiedi D et al.
Cancers, 2021
USP8 and TP53 Drivers are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors.
Uzilov AV et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
SST5 expression and USP8 mutation in functioning and silent corticotroph pituitary tumors.
Castellnou S et al.
Endocrine Connections, 2020
USP8 Mutations and Cell Cycle Regulation in Corticotroph Adenomas.
Martins CS et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020
Ubiquitin-Specific Protease 8 Mutant Corticotrope Adenomas Present Unique Secretory and Molecular Features and Shed Light on the Role of Ubiquitylation on ACTH Processing.
Sesta A et al.
Neuroendocrinology, 2020
USP8 mutations in corticotroph adenomas determine a distinct gene expression profile irrespective of functional tumour status.
Bujko M et al.
European Journal of Endocrinology, 2019
The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight.
Sbiera S et al.
Cancers, 2019
Biophysical and structural insight into the USP8/14-3-3 interaction.
Centorrino F et al.
Febs Letters, 2018
USP8 Mutations in Pituitary Cushing Adenomas-Targeted Analysis by Next-Generation Sequencing.
Ballmann C et al.
Journal of the Endocrine Society, 2018
Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson's tumor.
Pérez-Rivas LG et al.
European Journal of Endocrinology, 2018
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Faucz FR et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
The USP8 mutational status may predict drug susceptibility in corticotroph adenomas of Cushing's disease.
Hayashi K et al.
European Journal of Endocrinology, 2016
Genetics of Cushing's disease: an update.
Perez-Rivas LG et al.
Journal of Endocrinological Investigation, 2016
Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome.
Brioude F et al.
Hormone Research in Paediatrics, 2016
Recurrent gain-of-function USP8 mutations in Cushing's disease.
Ma ZY et al.
Cell Research, 2015
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
Reincke M et al.
Nature Genetics, 2015
[An analysis of mutations causing Gaucher disease in Chinese population].
Zhang WM et al.
Zhonghua Yi Xue Za Zhi, 2009
[Relationship of variation 3057 G-->A of exon 20 of leptin receptor gene to lipid metabolism and fat distribution of children with obesity].
Liu CY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004