Associated Papers
Conserved inter-domain interactions drive trans-Golgi network localization and trafficking of homologous copper-ATPases.
Jose SM et al.
Journal of Cell Science, 2026
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
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Primary Resistance to RET Inhibition in a RET Fusion-Positive Pancreatic Neuroendocrine Carcinoma.
McKinley BJ et al.
The Oncologist, 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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
Zhang T et al.
Bmc Pediatrics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B.
Ruturaj et al.
Journal of Cell Science, 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
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.
Chakraborty K et al.
Metallomics : Integrated Biometal Science, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study.
Shi M et al.
Genes, 2021
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
Woimant F et al.
Molecular Genetics & Genomic Medicine, 2020
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Wallace DF et al.
Human Genetics, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
From and to the Golgi - defining the Wilson disease protein road map.
Polishchuk RS et al.
Febs Letters, 2019
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.
Stalke A et al.
European Journal of Human Genetics : Ejhg, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 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
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Collet C et al.
Bmc Medical Genetics, 2018
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
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C et al.
Handbook of Clinical Neurology, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
A genetic study of Wilson's disease in the United Kingdom.
Coffey AJ et al.
Brain : a Journal of Neurology, 2013
Familial screening in Wilson's disease: think at the previous generation!
Brunet AS et al.
Journal of Hepatology, 2012
Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network.
Hasan NM et al.
The Journal of Biological Chemistry, 2012
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Ben-Rebeh I et al.
Genetic Testing and Molecular Biomarkers, 2012
Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.
Braiterman L et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2011