Varaico: Literature-Extracted Genetic Variants

Gene:USP8
Variant:p.S718C
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USP8

NM_005154.5:p.S718C

Associated Papers

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

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

39684597 (PubMed )
Supplement: ijms-25-12886-s001.zip › Supplementary_Tables.xlsx › Table_S1

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

Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.

Rebollar-Vega RG et al.

Archives of Medical Research, 2023

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

SST5 expression and USP8 mutation in functioning and silent corticotroph pituitary tumors.

Castellnou S et al.

Endocrine Connections, 2020

Cushing's disease due to somatic USP8 mutations: a systematic review and meta-analysis.

Wanichi IQ et al.

Pituitary, 2019

Stratifin regulates stabilization of receptor tyrosine kinases via interaction with ubiquitin-specific protease 8 in lung adenocarcinoma.

Kim Y et al.

Oncogene, 2018

Biophysical and structural insight into the USP8/14-3-3 interaction.

Centorrino F et al.

Febs Letters, 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

Gene mutations in Cushing's disease.

Xiong Q et al.

Biomedical Reports, 2016

Mutations in the deubiquitinase gene USP8 cause Cushing's disease.

Reincke M et al.

Nature Genetics, 2015

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

24127483 (PubMed )
Supplement: supp_jem.20131448_JEM_20131448_TableS2.xlsx › TableS2
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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."