Associated Papers
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.
Akbulut S et al.
Diagnostics (basel, Switzerland), 2025
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Aberrant copper metabolism and hepatic inflammation cause neurological manifestations in a mouse model of Wilson's disease.
Dong J et al.
Journal of Neuroinflammation, 2024
Exome sequencing for structurally normal fetuses-yields and ethical issues.
Daum H et al.
European Journal of Human Genetics : Ejhg, 2023
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
Song D et al.
Human Molecular Genetics, 2022
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype-phenotype correlation in Wilson disease.
Das S et al.
Human Mutation, 2022
Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
Tasmeen R et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2022
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
A case of Wilson disease with the ATP7B mutation presenting movement disorders.
Van Nguyen H et al.
Surgical Neurology International, 2021
Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency.
Diaz J et al.
Frontiers in Pediatrics, 2021
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Petters J et al.
Stem Cell Research, 2020
Computing the Pathogenicity of Wilson's Disease ATP7B Mutations: Implications for Disease Prevalence.
Tang N et al.
Journal of Chemical Information and Modeling, 2019
Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.
Ilyechova EY et al.
Journal of Personalized Medicine, 2019
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease.
Mohr I et al.
The Clinical Biochemist. Reviews, 2019
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.
Gupta A et al.
Metallomics : Integrated Biometal Science, 2018
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
Jung S et al.
Journal of Proteome Research, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C et al.
Handbook of Clinical Neurology, 2017
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Currently Clinical Views on Genetics of Wilson's Disease.
Chen C et al.
Chinese Medical Journal, 2015
Late onset fulminant Wilson's disease: a case report and review of the literature.
Weitzman E et al.
World Journal of Gastroenterology, 2014
Interactions between metal-binding domains modulate intracellular targeting of Cu(I)-ATPase ATP7B, as revealed by nanobody binding.
Huang Y et al.
The Journal of Biological Chemistry, 2014
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Braiterman LT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.
Squitti R et al.
Rejuvenation Research, 2013
Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B.
Dmitriev OY et al.
The Journal of Biological Chemistry, 2011
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Hsi G et al.
Human Mutation, 2008
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Davies LP et al.
Genetic Testing, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
de Bie P et al.
Journal of Medical Genetics, 2007
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis.
Ala A et al.
Hepatology (baltimore, Md.), 2005
The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.
Morgan CT et al.
The Journal of Biological Chemistry, 2004
Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.
Efremov RG et al.
The Biochemical Journal, 2004
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Kalinsky H et al.
Human Mutation, 1998
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
Shah AB et al.
American Journal of Human Genetics, 1997
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Kurosaki A et al.
Rinsho Hoshasen. Clinical Radiography, 1984