Associated Papers
Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.
Perini JA et al.
Toxics, 2024
Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.
Zhang T et al.
Peerj, 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
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.
Zhang S et al.
Medicine, 2020
Wilson disease missense mutations in ATP7B affect metal-binding domain structural dynamics.
Shanmugavel KP et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2019
Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease.
Zhu Q et al.
Medicine, 2019
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
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
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Qian Z et al.
Molecular Genetics & Genomic Medicine, 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
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
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
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
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
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
Zong YN et al.
Genetics and Molecular Research : Gmr, 2015
Clinical and genetic analysis of pediatric patients with Wilson disease.
Şimşek Papur Ö et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2015
Wilson disease with hepatic presentation in an eight-month-old boy.
Abuduxikuer K et al.
World Journal of Gastroenterology, 2015
Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy.
Tecza K et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
Lu CX et al.
European Journal of Medical Genetics, 2014
Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.
Cocoş R et al.
Plos One, 2014
ATP7B variants as modulators of copper dyshomeostasis in Alzheimer's disease.
Squitti R et al.
Neuromolecular Medicine, 2013
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
Aggarwal A et al.
Annals of Human Genetics, 2013
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
Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.
Squitti R et al.
Rejuvenation Research, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Copper dysfunction in Alzheimer's disease: from meta-analysis of biochemical studies to new insight into genetics.
Squitti R
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2012
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.
Peña-Quintana L et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012