Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
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
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.
Own-Eium P et al.
Journal of Human Genetics, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 2024
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
Stalke A et al.
Clinical Genetics, 2023
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
Song D et al.
Human Molecular Genetics, 2022
Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case report.
Schult A et al.
World Journal of Hepatology, 2022
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Panzer M et al.
Hepatology Communications, 2022
The pathophysiology of Wilson's disease visualized: A human 64 Cu PET study.
Sandahl TD et al.
Hepatology (baltimore, Md.), 2022
Re-evaluation of King Wilson Index in Children With Acutely Decompensated Hepatic Wilson Disease.
Chanpong A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
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
Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations.
Höflich C et al.
Scientific Reports, 2021
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
García-Villarreal L et al.
Journal of Gastroenterology, 2021
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.
Yuan XZ et al.
Current Neuropharmacology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.
Zarina A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Qian Z et al.
Molecular Genetics & Genomic Medicine, 2019
Biochemical Markers for the Diagnosis and Monitoring of Wilson Disease.
Mohr I et al.
The Clinical Biochemist. Reviews, 2019
Genetics and epigenetic factors of Wilson disease.
Medici V et al.
Annals of Translational Medicine, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.
Parisi S et al.
Scientific Reports, 2018
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Tuan Pham LA et al.
Journal of Genetics, 2017
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Zarina A et al.
Molecular Genetics & Genomic Medicine, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Zhang DF et al.
Genetics and Molecular Research : Gmr, 2016
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Currently Clinical Views on Genetics of Wilson's Disease.
Chen C et al.
Chinese Medical Journal, 2015