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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 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
Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.
Martinerie L et al.
Annales D'endocrinologie, 2024
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
Sakamoto M et al.
Journal of Human Genetics, 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
Pituitary Tumors: Genetic and Molecular Factors Underlying Pathogenesis and Clinical Behavior.
Spada A et al.
Neuroendocrinology, 2022
The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight.
Sbiera S et al.
Cancers, 2019
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome.
Cohen M et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
The USP8 mutational status may predict drug susceptibility in corticotroph adenomas of Cushing's disease.
Hayashi K et al.
European Journal of Endocrinology, 2016
[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