ReviewChinese medical journal2015
Currently Clinical Views on Genetics of Wilson's Disease.
Review in Chinese medical journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Re-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review.Cureus · 2025Article
- Molecular Characterization of Wilson's Disease in Liver Transplant Patients: A Five-Year Single-Center Experience in Iran.Diagnostics (Basel, Switzerland) · 2025Article
- Research progress in stem cell therapy for Wilson disease.Regenerative therapy · 2024Review
- Diverse roles of the metal binding domains and transport mechanism of copper transporting P-type ATPases.Nature communications · 2024Article
- Outcomes of pregnancy in Wilson's disease: a population-based study from multiple centres of the Han population in China.Frontiers in medicine · 2024Article
- Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2023Review
- Analysis of risk factors for neurological symptoms in patients with purely hepatic Wilson's disease at diagnosis.BMC neurology · 2023Article
- Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.Frontiers in genetics · 2023Article
- Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2022Article
- Mutation spectrum ofMolecular genetics and metabolism reports · 2022Article
- Morphometric mapping of the macrostructural abnormalities of midsagittal corpus callosum in Wilson's disease.Annals of movement disorders · 2021Article
- A Novel Mutation ofMedicina (Kaunas, Lithuania) · 2021Article
- Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.Current neuropharmacology · 2021Article
- Wilson disease associated with immune thrombocytopenia: A case report and review of the literature.World journal of clinical cases · 2019Article
- Population screening and diagnostic strategies in screening family members of Wilson's disease patients.Annals of translational medicine · 2019Review
- Familial screening of children with Wilson disease: Necessity of screening in previous generation and screening methods.Medicine · 2018Observational
- Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.BMC medical genetics · 2018Article
- The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2017Review
- Insights into the management of Wilson's disease.Therapeutic advances in gastroenterology · 2017Review
- Wilson's Disease in China.Neuroscience bulletin · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe 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.
resultsWilson'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.
conclusionsClinical 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.
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