Osteoporosis is an ageing‐related disease, that has become a major public health problem
and its pathogenesis has not yet been fully elucidated. Substantial evidence suggests a …

There are many different genetic diseases called inborn errors of metabolism (IEM) which
result from defective enzymes in the metabolic pathway. As a result, these defects either …

Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results
in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders …

Psychosis is a severe mental disorder characterized by abnormal thoughts and perceptions
(eg, hallucinations) occurring quintessentially in schizophrenia and in several other …

Ubiquitination and deubiquitination are important mechanisms to maintain normal
physiological activities, and their disorders or imbalances can lead to various diseases. As a …

Ubiquitin-specific proteases (USPs) are the largest class of human deubiquitinases (DUBs)
and comprise its phylogenetically most distant members USP53 and USP54, which are …

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders
caused by defects in biliary epithelial transporters. It mostly presents as low γ …

背景: USP53 基因缺陷病是新发现的以胆汁淤积为特征的罕见遗传性疾病, 目前报告病例少,
亟待积累更多病例全面描述临床表型和基因型. 目的: 报告USP53 基因缺陷病的临床特点和基因 …

Аннотация Прогрессирующий семейный внутрипечёночный холестаз является одной
из причин прямой гипербилирубинемии у детей раннего возраста и необходимость его …

Background: USP53 gene deficiency disease is a newly discovered rare genetic disorder
characterized by cholestasis. Few cases have been reported and more cases need to be …