Genetics of Cushing's disease: an update.
München, Germany. In J Endocrinol Invest, Jan 2016
Using whole-exome sequencing, recurrent mutations have been reported in the gene coding for the ubiquitin-specific protease 8 (USP8), a protein with deubiquitinase (DUB) activity that modulates the lysosomal turnover of the EGF receptor (EGFR) and other membrane proteins.
Decoding the genetic basis of Cushing's disease: USP8 in the spotlight.
Tokyo, Japan. In Eur J Endocrinol, Oct 2015
Recently, a somatic mutational hotspot was found in up to half of corticotrophinomas in the USP8 gene that encodes a protein that impairs the downregulation of the epidermal growth factor receptor (EGFR) and enables its constitutive signaling.
The New Molecular Landscape of Cushing's Disease.
Würzburg, Germany. In Trends Endocrinol Metab, Oct 2015
Most recently, mutations in the gene of ubiquitin-specific peptidase 8 (USP8) increasing its deubiquination activity were discovered in a high percentage of corticotroph adenomas.
The diagnostic value of tumor markers in bronchoalveolar lavage fluid for the peripheral pulmonary carcinoma.
Chongqing, China. In Clin Respir J, Sep 2015
BACKGROUND: To investigate the value of Ubiquitin specific peptidase 8 (USP8), Chitinase 3-like 1 (YKL40), Heat shock protein 90a (HSP90α), glutathione S-transferase P1 (GSTP1), carcinoembryonic antigen (CEA), neuron specific enolase (NSE) and cytokeratin fragment antiogen 21-1 (CYFRA21-1) in bronchoalveolar lavage fluid (BALF) and serum for diagnosis in patients with peripheral lung cancer.