Varaico: Literature-Extracted Genetic Variants

Gene:USP8
Variant:p.P720Q
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USP8

NM_005154.5:p.P720Q

Associated Papers

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 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

40392165 (PubMed )
Supplement: lvaf097_supplementary_data.zip › Supplementary_Information_S1corrected.docx

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

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

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 Expression of Cell Cycle-Related Genes in USP8-Mutated Corticotroph Neuroendocrine Pituitary Tumors and Their Possible Role in Cell Cycle-Targeting Treatment.

Mossakowska BJ et al.

Cancers, 2022

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

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

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

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

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

The USP8 mutational status may predict drug susceptibility in corticotroph adenomas of Cushing's disease.

Hayashi K et al.

European Journal of Endocrinology, 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

[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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."