Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study provided additional information on the genotypic spectrum of the ATP7B gene, particularly with regard to early onset hepatic disease, as observed in the present patient with WD.
|
31746411 |
2020 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Plasma ceruloplasmin was investigated in both the Atp7b-/- mouse model and human patients; it was significantly decreased in the human form of WD only.
|
31815268 |
2020 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objective of the present study was estimation of the frequency of ATP7B gene mutations in the Russian population of WD patients.
|
31708252 |
2020 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Some patients with clinical Wilson's disease symptoms exhibit no or only heterozygous pathogenic variants in the coding region of the disease-causing ATP7B gene.
|
31596515 |
2020 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results will be helpful in establishing early diagnosis of WD at the gene level, offering beneficial information for genetic counseling and providing clues to genotype/phenotype correlation of ATP7B mutations.
|
31172689 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, p.(Gly14Ser) was seen with an early onset age, reduced serum ceruloplasmin level and manifestations of liver and brain in a WD patient unlike the other having identical ATP7B mutation but normal ATOX1 alleles.
|
30980273 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study revealed the complex ATP7B mutation patterns in WD patients and the applicability of a yeast model system to the evaluation of the functional consequences of ATP7B variants, which is essential for WD cases that are difficult to interpret.
|
30702195 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tetrathiomolybdate (TM) is used in the clinic for the treatment of Wilson's disease by targeting the cellular copper efflux protein ATP7B (WLN).
|
30643139 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by defects in the ATPase gene (ATP7B).
|
31547461 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
|
30884209 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To begin to assess mechanisms of dysfunction, we investigated four proposed WD-causing missense mutations in metal-binding domains 5 and 6 of ATP7B.
|
31598802 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism caused by an ATP7B gene mutation.
|
30967268 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Of these, the Cu-transporting ATPase ATP7B (known as Wilson disease protein) plays a key role in the maintenance of the Cu balance in the body via the supply of essential Cu to the systemic circulation and via elimination of excess Cu into the bile.
|
31408533 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SHED and SHED-Heps were transplanted into WD model Atp7b-mutated Long-Evans Cinnamon (LEC) rats received copper overloading to induce a lethal fulminant liver failure.
|
30733544 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
In contrast to AAV8-ATP7B, AAV8-miniATP7B could be produced at high titers and was able to restore copper homeostasis in 6- and 12-week-old male and female WD mice.
|
30706949 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutation in ATP7B gene might disturb the structural conformation and catalytic function of the ATP7B protein may be inducing WD.
|
31286540 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that, in contrast to the current dogma, the most frequent yet enigmatic Wilson disease-causing ATP7B-H1069Q mutation per se did not preclude trafficking of ATP7B to the trans-Golgi Network.
|
30965071 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In a Polish population, genetic screening for WD may help genotype for four variants (p.His1069Gln, p.Gln1351Ter, p.Trp779Ter and c.3402delC), with direct sequencing of all ATP7B amplicons as a second diagnostic step.
|
30230192 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease (WD) is an autosomal recessive disease of copper excess due to pathogenic variants in the ATP7B gene coding for a copper-transporting ATPase.
|
30723317 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
|
31059521 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
We studied ATP7B-deficient cells and animals to identify strategies to decrease copper toxicity in patients with WD.
|
30452922 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The global prevalence of Wilson disease from next-generation sequencing data.
|
30254379 |
2019 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
1.WTX101 (bis-choline tetrathiomolybdate) is an investigational copper (Cu)-protein-binding agent developed for the treatment of Wilson disease (WD), a rare genetic disorder caused by mutations in the ATP7B Cu-transporter and resulting in toxic Cu accumulation.2.
|
29460662 |
2019 |