|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This necessitated systematic characterization of the molecular consequences of distinct ATP7B missense mutations associated with WD.
|
19937698 |
2009 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We determined the genetic prevalence of Wilson's disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects.
|
23518715 |
2013 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Some exons of ATP7B gene mutations were analyzed in patients with WD by using biochemical methods, polymerase chain reaction-single strand configuration polymorphism (PCR-SSCP) and DNA sequence analysis.
|
14966923 |
2004 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.
|
9654149 |
1998 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The results show (i) the vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, and (ii) the probability that a mutation causes Menkes/Wilson disease is about nine tenth.
|
18688737 |
2008 |
|
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 |
LHGDN |
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
|
18373411 |
2008 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Long-term results of liver transplantation for Wilson's disease.
|
18403153 |
2008 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Wilson disease in children: analysis of 57 cases.
|
19172127 |
2009 |
|
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 |
Screening for mutations at exon 8 of ATP7B by fluorescent polymerase chain reaction analysis and restriction analysis was conducted in 106 unrelated Chinese patients with WD and in 55 individuals from 10 Chinese families with WD.
|
11708998 |
2001 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have sequenced the 5' UTR and promoter region of ATP7B in 37 unrelated WND patients in whom partial sequencing of the coding region and intron/exon boundaries of the gene had failed to identify one or both disease-causing mutations.
|
14616767 |
2003 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Wilson disease (WD), a disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase.
|
22763723 |
2012 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The aim of this study was to screen and detect mutations of the ATP7B gene in unrelated Turkish Wilson disease patients (n = 46) and control group (n = 52).
|
23333878 |
2013 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson's disease is a rare condition characterized by a defect in biliary excretion of copper, due to a mutation of both alleles of "Wilson's disease" gene (ATP7b gene).
|
17272992 |
2007 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ten mutations have been made in the ATP7B cDNA by site-directed mutagenesis: five Wilson disease missense mutations, two mutations originally classified as possible disease-causing mutations, two putative ATP7B normal variants, and mutation of the cysteine-proline-cysteine (CPC) motif conserved in heavy-metal-transporting P-type ATPases.
|
9837819 |
1998 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Long Evans Cinnamon rats (LEC) bear a mutation in the atp7b gene and share clinical characteristics of human WD.
|
16700326 |
2006 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
[Nodular hepatic tuberculosis: unusual complication during Wilson's disease].
|
24932333 |
2014 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells.
|
22240481 |
2012 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.
|
8980283 |
1997 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease (WND) is caused by mutations in the ATP7B gene and exhibits substantial allelic heterogeneity.
|
15523622 |
2004 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The product of the Wilson disease gene is a copper transporting P-type ATPase (ATP7B).
|
12544487 |
2003 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Zinc monotherapy is effective in Wilson's disease patients with mild liver disease diagnosed in childhood: a retrospective study.
|
24661374 |
2014 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
|
18371106 |
2008 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
|
9311736 |
1997 |