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Objective:The objective of this study was to review the research on clinical genetics of Wilson's disease (WD).Data Sources:We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype.Study Selection:Publications about the ATP7B gene and protein function associated with clinical features were selected.Results:Wilson's disease, also named hepatolenticular degeneration, is an autosomal recessive genetic disorder characterized by abnormal copper metabolism caused by mutations to the copper-transporting gene ATP7B. Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs, including liver, brain, and cornea, finally resulting in liver disease and extrapyramidal symptoms. It is the most common genetic neurological disorder in the onset of adolescents, second to muscular dystrophy in China. Early diagnosis and medical therapy are of great significance for improving the prognosis of WD patients. However, diagnosis of this disease is usually difficult because of its complicated phenotypes. In the last 10 years, an increasing number of clinical studies have used molecular genetics techniques. Improved diagnosis and prediction of the progression of this disease at the molecular level will aid in the development of more individualized and effective interventions, which is a key to transition from molecular genetic research to the clinical study.Conclusions:Clinical genetics studies are necessary to understand the mechanism underlying WD at the molecular level from the genotype to the phenotype. Clinical genetics research benefits newly emerging medical treatments including stem cell transplantation and gene therapy for WD patients.

The nonuniformity of microscopic electrochemical reaction of electrodes essentially results in the partial reaction discrepancy and subsequent partial overheating, which is the most critical safety problem of the battery system in electric vehicles. Herein, we report a class of DLPC@S/DLPC@Li full cell based on a distinctly constructed double-layer photonic crystal (DLPC) with a three-dimensional-ordered interconnected structure. This full cell not only ensures the uniformity of microscopic electrochemical reaction but also solves common problems such as low conductivity of sulfur, poor cycle life, and lithium dendrite growth. Impressively, the full cell exhibits superior electrochemical performance pertaining to high reversible capacity of 703.3 mAh g–1 even at an extremely high rate of 10 C and excellent cycle performance with 1200 cycles with about 0.0317% capacity loss per cycle at 0.5 C.