ArticleJournal of molecular medicine (Berlin, Germany)2006
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
Article in Journal of molecular medicine (Berlin, Germany), 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 54 citations in OpenAlex.
- Therapeutic implications of impaired nuclear receptor function and dysregulated metabolism in Wilson's disease.Pharmacology & therapeutics · 2023Review
- Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations.Movement disorders : official journal of the Movement Disorder Society · 2021Observational
- Large Animal Models in Regenerative Medicine and Tissue Engineering: To Do or Not to Do.Frontiers in bioengineering and biotechnology · 2020Review
- Towards Bioengineered Liver Stem Cell Transplantation Studies in a Preclinical Dog Model for Inherited Copper Toxicosis.Bioengineering (Basel, Switzerland) · 2019Review
- Preclinical models of Wilson's disease, why dogs are catchy alternatives.Annals of translational medicine · 2019Review
- Wilson disease.Nature reviews. Disease primers · 2018Review
- Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.Metabolic brain disease · 2017Article
- Wilson's Disease in China.Neuroscience bulletin · 2017Review
- Clinical features and outcome in patients with osseomuscular type of Wilson's disease.BMC neurology · 2017Article
- Mutational analysis of ATP7B in Chinese Wilson disease patients.American journal of translational research · 2016Article
- Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.Theranostics · 2016Article
- Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.BioMed research international · 2015Article
- Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.PloS one · 2015Article
- Zinc monotherapy and a low-copper diet are beneficial in patients with Wilson disease after liver transplantation.CNS neuroscience & therapeutics · 2013Article
- Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.Neuroscience bulletin · 2013Article
- Advance in the pathogenesis and treatment of Wilson disease.Translational neurodegeneration · 2012Article
- Canine models of copper toxicosis for understanding mammalian copper metabolism.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Review
- Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.JIMD reports · 2012Article
- Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.Journal of molecular medicine (Berlin, Germany) · 2011Article
- Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.Journal of inherited metabolic disease · 2010Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease (WD) is the most common disorder resulting in hepatic copper overload. A similar form of copper-associated cirrhosis caused by mutations of the canine copper toxicosis MURR1 gene is also observed in Bedlington terriers. Recent studies indicate that MURR1 might influence human copper metabolism and the clinical presentations of WD. However, the correlation between the MURR1 gene and the Chinese patients with WD has not been reported. In the present study, all three exons of the MURR1 gene including the intron-exon boundaries were directly sequenced in 120 unrelated healthy Chinese and 218 unrelated Chinese patients with WD. No mutations were detected in coding and splice site sequence in the human MURR1 gene. A novel polymorphism 3'+119T-->A in the 3' untranslated region (UTR) was identified in three healthy individuals and four patients with two disease-causing mutations in the ATP7B gene and a great diversity of clinical presentations. Of the ATP7B mutations reported here, Gly1268Arg is a novel one. Also, the previously described nucleotide change IVS2+63C-->G was detected in 31.66% of normal chromosomes and 26.15% of WD chromosomes. The results have indicated that there is no correlation between MURR1 and WD in the Chinese population.
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