Varaico: Literature-Extracted Genetic Variants

Gene:USP48
Variant:p.M415I
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USP48

NM_032236.8:p.M415I

Associated Papers

Relevance of mutations in protein deubiquitinases genes and TP53 in corticotroph pituitary tumors.

Pękul M et al.

Frontiers in Endocrinology, 2024

Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors.

Torres-Morán M et al.

Cancers, 2023

[Molecular genetic abnormalities in ACTH-secreting pituitary tumors (corticotropinomas): fundamental research and prospects for use in clinical practice].

Lapshina AM

Problemy Endokrinologii, 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

Genetic Basis of ACTH-Secreting Adenomas.

Locantore P et al.

International Journal of Molecular Sciences, 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

The genomic profiling and MAMLD1 expression in human and canines with Cushing's disease.

Wang A et al.

Bmc Endocrine Disorders, 2021

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

Differential microRNA Expression in USP8-Mutated and Wild-Type Corticotroph Pituitary Tumors Reflect the Difference in Protein Ubiquitination Processes.

Bujko M et al.

Journal of Clinical Medicine, 2021

Genetic and Epigenetic Causes of Pituitary Adenomas.

Chang M et al.

Frontiers in Endocrinology, 2020

Driver mutations in USP8 wild-type Cushing's disease.

Sbiera S et al.

Neuro-oncology, 2019

Identification of recurrent USP48 and BRAF mutations in Cushing's disease.

Chen J et al.

Nature Communications, 2018

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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."