|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
ATP7B mutations may lead to reduced biliary excretion of excess copper and disrupted copper homeostasis, resulting in various clinical symptoms of WD.
|
30384382 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report statistically significant overrepresentation of pathogenic variants for several Mendelian disorders, including phenylketonuria (PAH, rs5030858), Wilson's disease (ATP7B, rs76151636), factor VII deficiency (F7, rs36209567), kyphoscoliosis type of Ehlers-Danlos syndrome (FKBP14, rs542489955), and several other recessive pathologies.
|
31482689 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
For the first patient, a liver biopsy confirmed the pathological features of CHF, and genetic testing revealed three heterozygous missense mutations, which were classified as "undetermined" in the public Wilson's disease/ATP7B and ADPKD/PKD1 databases.
|
31096464 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The underlying mechanisms of CHM for WD are associated with reversing the ATP7B mutants, exerting anti-oxidation, anti-inflammation, and anti-hepatic fibrosis effects.
|
31001112 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review, the genetic bases of the disease are discussed, with emphasis on the role of ATP7B (the Wilson disease protein) dysfunction as a determinant factor of systemic copper overload.
|
30703747 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Jackson toxic milk mutant mice (tx-J) carrying a missense mutation in the Atp7b gene are animal models of the Wilson disease.
|
31011744 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, the Cu chaperone Atox1 mediates Cu(I) delivery to P-type ATPases Atp7a and Atp7b (the Menkes and Wilson disease proteins, respectively), which are responsible for Cu release to the secretory pathway and excess Cu efflux.
|
31283225 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Computing the Pathogenicity of Wilson's Disease ATP7B Mutations: Implications for Disease Prevalence.
|
31751128 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Sanger sequencing of ATP7B was performed in 142 newly recruited WD index patients.
|
30655162 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Intravenously administering an adeno-associated viral (AAV) 8 vector expressing a codon-optimized version of the human ATP7B transgene into 2-month-old WD mice significantly decreased liver copper levels compared with age-matched, uninjected, WD mice.
|
30693797 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease (WD) is a hereditary metabolic disorder (HMD) caused by a mutation in the copper-transporting gene ATP7B affecting the liver and central nervous system.
|
31727212 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease (WD) is an autosomal recessive disease caused by mutations in ATP7B encoding a copper transporter.
|
30709419 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene.
|
31783295 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to (1) perform a meta-analysis of previous WD prevalence estimates, (2) estimate the prevalence of WD from population sequencing data, and (3) generate an ATP7B gene variant database.
|
30254379 |
2019 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
A WGBS comparison of human WD liver and tx-j mouse liver demonstrated a significant overlap of differentially methylated genes associated with ATP7B deficiency.
|
30010856 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study investigated the splicing defects of the ATP7B exonic variants identified in a cohort of 44 patients with Wilson disease.
|
29637721 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
<b>Objectives:</b> To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease.
|
29761093 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
|
30087448 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the ATP7B gene leading to abnormal copper deposition in liver and brain.
|
29059476 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase.
|
29325617 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.
|
29674751 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To estimate the genetic prevalence of WD in France, we analysed the ATP7B gene by Next Generation Sequencing from a large French cohort of indiscriminate subjects.
|
30097039 |
2018 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Henceforth, we screened and sequenced 21 exons of ATP7B gene from 50 WD patients and 60 healthy subjects.
|
30120852 |
2018 |