IndraLab

Statements

USP53 activates Cholestasis. 7 / 7
| 7
reach
"Previous studies identified a new type of normal-GGT cholestasis caused by autosomal recessive pathogenic variants in ubiquitin-specific peptidase 53 (USP53)."
| PMC
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"Mutations in the USP53 gene can cause cholestasis and deafness and may also be a potential cause of schizophrenia."
39300775
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"Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene ( USP53 ) causing low-γ-GT (GGT) cholestasis."
34681012
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"Mutations in the USP53 gene in humans can cause cholestasis [4,5,6], hearing loss [7], and other conditions."
37894400
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"However, we cannot be sure that hepatic hemangiomas are the specific symptom of cholestasis caused by mutations in USP53 gene because they are the most common benign liver tumor, the incidence of which ranges from 0.4% to 20% of the total population."
| PMC
reach
"Here, we report a novel truncating mutation in the ubiquitin-specific peptidase gene (USP53) causing low-gamma-GT (GGT) cholestasis."
| PMC
reach
"In this study, we aimed to characterize clinical findings and biological insights on a novel USP53 splice variant causing cholestasis phenotype and provided a review of the literature."
36660033