Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 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
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 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
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Garbuz M et al.
Biomedicines, 2024
Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Loudianos G et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.
Garbuz MM et al.
Genes, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 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
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.
Qiao L et al.
Molecular Genetics & Genomic Medicine, 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
Wilson disease: 30-year data on epidemiology, clinical presentation, treatment modalities and disease outcomes from two tertiary Greek centers.
Tampaki M et al.
European Journal of Gastroenterology & Hepatology, 2020
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Roy S et al.
Scientific Reports, 2020
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 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
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
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Jang JH et al.
Journal of Human Genetics, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
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
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
Zong YN et al.
Genetics and Molecular Research : Gmr, 2015
Currently Clinical Views on Genetics of Wilson's Disease.
Chen C et al.
Chinese Medical Journal, 2015
Copper mediated neurological disorder: visions into amyotrophic lateral sclerosis, Alzheimer and Menkes disease.
Ahuja A et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015
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
A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
Chen L et al.
Gene, 2014
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O et al.
European Journal of Medical Genetics, 2013
Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.
Seo JK
Pediatric Gastroenterology, Hepatology & Nutrition, 2012
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
Schushan M et al.
Metallomics : Integrated Biometal Science, 2012
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
Molecular pathology of Wilson's disease: a brief.
Lalioti V et al.
Journal of Hepatology, 2010
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Zappu A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Kenney SM et al.
Human Mutation, 2007
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Park S et al.
Human Mutation, 2007
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
Lovicu M et al.
Journal of Gastroenterology, 2006
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
Margarit E et al.
Clinical Genetics, 2005
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Panagiotakaki E et al.
American Journal of Medical Genetics. Part A, 2004
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
Liu XQ et al.
World Journal of Gastroenterology, 2004