Associated Papers
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.
Perini JA et al.
Toxics, 2024
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity.
Yoon JG et al.
Experimental & Molecular Medicine, 2024
Pharmacogenetic Analysis of an 8-Year Old Girl with Reye Syndrome Associated with Use of Naproxen.
Kim B et al.
The American Journal of Case Reports, 2024
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 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
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.
Song D et al.
Human Molecular Genetics, 2022
A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.
Vicario-Feliciano R et al.
Cureus, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Cuproptosis-Related Gene - SLC31A1, FDX1 and ATP7B - Polymorphisms are Associated with Risk of Lung Cancer.
Yun Y et al.
Pharmacogenomics and Personalized Medicine, 2022
Predictive value of ERCC2, ABCC2 and MMP2 of response and long-term survival in locally advanced head and neck cancer patients treated with chemoradiotherapy.
Duran G et al.
Cancer Chemotherapy and Pharmacology, 2021
Copper Imbalance in Alzheimer's Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants.
Squitti R et al.
Biomolecules, 2021
Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
Wang J et al.
Medicine, 2021
Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.
Zhang S et al.
Medicine, 2020
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Sánchez-Monteagudo A et al.
Clinical Genetics, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein.
McCann CJ et al.
Metallomics : Integrated Biometal Science, 2019
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
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
Ferenci P et al.
Hepatology (baltimore, Md.), 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
A case of a mild Wolfram Syndrome with concomitant ATP7B mutation.
Squitti R et al.
Cellr4-- Repair, Replacement, Regeneration, & Reprogramming, 2019
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N et al.
Human Mutation, 2018
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.
Daneshjoo O et al.
Journal of Medical Case Reports, 2018
Copper dyshomeostasis in Wilson disease and Alzheimer's disease as shown by serum and urine copper indicators.
Squitti R et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2018
ATP7B rs9535826 is associated with gastrointestinal toxicity of platinum-based chemotherapy in nonsmall cell lung cancer patients.
Li YQ et al.
Journal of Cancer Research and Therapeutics, 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
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Cheng N et al.
Clinical Genetics, 2017
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Zarina A et al.
Molecular Genetics & Genomic Medicine, 2017
In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
Mercer SW et al.
The Journal of Biological Chemistry, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Metallo-pathways to Alzheimer's disease: lessons from genetic disorders of copper trafficking.
Greenough MA et al.
Metallomics : Integrated Biometal Science, 2016
Non-ceruloplasmin bound copper and ATP7B gene variants in Alzheimer's disease.
Squitti R et al.
Metallomics : Integrated Biometal Science, 2016
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Ljubić H et al.
Genetic Testing and Molecular Biomarkers, 2016
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 2016
Mutational analysis of ATP7B in Chinese Wilson disease patients.
Hua R et al.
American Journal of Translational Research, 2016
Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
Todorov T et al.
Plos One, 2016