Associated Papers
Nucleotide Substitution Biases in Related Cancer Driver Genes.
Khadre A et al.
International Journal of Molecular Sciences, 2025
Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.
Hernández-Ramírez LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.
Zainab R et al.
Pituitary, 2025
Genetic profiling of synchronous pituitary corticotroph adenomas.
Zhang D 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
Genetic Profiling of Synchronous Pituitary Corticotroph Adenomas.
Zhang D et al.
Research Square, 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
Cushing's Disease Manifestation in USP8-Mutated Corticotropinoma May Be Mediated by Interactions Between WNT Signaling and SST Trafficking.
Nerubenko E et al.
International Journal of Molecular Sciences, 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
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
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
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
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
Case Report: Consecutive Adrenal Cushing's Syndrome and Cushing's Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations.
Detomas M et al.
Frontiers in Endocrinology, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
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
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
Cushing's disease due to somatic USP8 mutations: a systematic review and meta-analysis.
Wanichi IQ et al.
Pituitary, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 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
Genetics of Cushing's disease: an update.
Perez-Rivas LG et al.
Journal of Endocrinological Investigation, 2016
The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.
Perez-Rivas LG et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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