Associated Papers
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
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 2024
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 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
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
Mutational analysis of exon 8 and exon 14 of ATP7B gene in Bangladeshi children with Wilson disease.
Tasmeen R et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction.
Kumari N et al.
Molecular Biology Reports, 2019
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 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
Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.
Khan HN et al.
Molecular Biology Reports, 2018
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 2016
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Wilson's disease and other neurological copper disorders.
Bandmann O et al.
The Lancet. Neurology, 2015
The Pragmatic Treatment of Wilson's Disease.
Aggarwal A et al.
Movement Disorders Clinical Practice, 2014
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
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
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
Dastsooz H et al.
Hepatitis Monthly, 2013
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
Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.
Rosencrantz R et al.
Seminars in Liver Disease, 2011
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Luoma LM et al.
Human Mutation, 2010
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
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Gupta A et al.
Cellular and Molecular Neurobiology, 2007
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.
Gupta A et al.
Clinical Chemistry, 2007
Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.
Kumar S et al.
Molecular and Cellular Biochemistry, 2007
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.
Sazinsky MH et al.
The Journal of Biological Chemistry, 2006
Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations.
Dmitriev O et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Kumar S et al.
Clinical Genetics, 2005
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Loudianos G et al.
Genetic Testing, 2003
Oxidative-phosphorylation defects in liver of patients with Wilson's disease.
Gu M et al.
Lancet (london, England), 2000
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S et al.
Molecular Genetics and Metabolism, 0
Familial gene analysis for Wilson disease from north-west Indian patients.
Kumar S et al.
Annals of Human Biology, 0
R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.
Kalita J et al.
Neurology India, 0