The Wilson's disease gene and phenotypic diversity.
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- Type
- review
- Published
- 2001-01-01
- Cited by
- 143
- References
- 88
- Access
- Open access
- OpenAlex
- https://openalex.org/W1966143778
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:11334805
Keywords
Superoxide dismutase, Ceruloplasmin, Biochemistry, Chemistry, Biology
References
- The LEC rat: a model for human hepatitis, liver cancer, and much more.
- Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
- Ligand‐regulated transport of the Menkes copper P‐type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.
- Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure.
- Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
- Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver.
- Diagnosis of Wilson's disease presenting as fulminant hepatic failure.
- Reversal of severe neurological manifestations of Wilson's disease following orthotopic liver transplantation.
- Not Wilson's disease: a review of misdiagnosed cases.
- Liver copper storage and transport during development: implications for cytotoxicity.
- Wilson's disease in adults with cirrhosis but no neurological abnormalities.
- Identification and Functional Expression of HAH1, a Novel Human Gene Involved in Copper Homeostasis*
- ATP7B (WND) protein.
- Diagnosis of Wilson's disease in an asymptomatic sibling by DNA linkage analysis.
- Localization of the Wilson's disease protein product to mitochondria.
- DNA markers for the diagnosis of Wilson disease.
- Very high frequency of the His1069Gln mutation in Polish Wilson disease patients
- Hepatic failure and liver cell damage in acute Wilson's disease involve CD95 (APO-1 /Fas) Mediated apoptosis
- Apolipoprotein E allele–specific antioxidant activity and effects on cytotoxicity by oxidative insults and β–amyloid peptides
- Wilson disease: clinical presentation, treatment, and survival.
Cited by
- Wilson disease and hepatocellular carcinoma.
- Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients.
- Monozygotic female twins discordant for phenotype of Wilson's disease
- Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases
- Copper homeostasis in human mammary epithelial cells
- Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
- Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
- Cardiac involvement in Wilson disease
- Wilson's disease: an old disease keeps its old secrets
- Influence of Ogg1 repair on the genetic stability of ccc2 mutant of Saccharomyces cerevisiae chemically challenged with 4-nitroquinoline-1-oxide (4-NQO).
- Subthalamic nucleus deep brain stimulation for camptocormia associated with Parkinson's disease
- Structural and metabolic changes in Atp7b−/− mouse liver and potential for new interventions in Wilson's disease
- Enfermedad de Wilson: revisión del tema
- Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology
- Hepatitic inherited metabolic disorders.
- Hepatic copper metabolism: Insights from genetic disease
- Wilson Disease in Children: Analysis of 57 Cases
- A Novel Mutation in ATP7B Gene Associated with Severe Neurological and Psychiatric Symptoms
- Not too little, not too much, but just right
- Three sisters with very-late-onset major depression and parkinsonism.
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