|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
|
16649058 |
2006 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Neurological Wilson's disease lethal for the son, asymptomatic in the father.
|
23389864 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
Wilson disease (WD) is an autosomal recessive disorder due to the defect in ATP7B gene characterized by excessive accumulation of copper in the liver with progressive hepatic damage and subsequent redistribution to various extrahepatic tissues including the brain, kidneys, and cornea.
|
16549536 |
2006 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Morbus Wilson: Case report of a two-year-old child as first manifestation.
|
16635921 |
2006 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
CTD_human |
Copper transportion of WD protein in hepatocytes from Wilson disease patients in vitro.
|
11854914 |
2001 |
|
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Long-term results of liver transplantation for Wilson's disease.
|
18403153 |
2008 |
|
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Wilson disease (WD) protein (ATP7B) is a copper-transporting P-type ATPase that is responsible for the efflux of hepatic copper into the bile, a process that is essential for copper homeostasis in mammals.
|
12385784 |
2002 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of Taiwanese Wilson disease patients.
|
16696937 |
2006 |
|
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 |
Biomarker
|
disease |
CTD_human |
The Drosophila ATP7 copper transporter has sequence homology to the human copper transporters ATP7A and ATP7B, which are defective in Menkes and Wilson disease, respectively.
|
22981378 |
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 |
Biomarker
|
disease |
MGD |
Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation.
|
11085952 |
2000 |