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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Wilson disease (WD) is an autosomal-recessive copper overload disorder caused by mutations in the copper-transporting adenosine triphosphatase (ATPase) ATP7B.
|
20517649 |
2010 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
Wilson disease gene product (ATP7B) functions in copper incorporation to ceruloplasmin (Cp) and biliary copper excretion.
|
19007772 |
2009 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
|
23982005 |
2013 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wilson disease is an autosomal recessive disorder of copper transport, caused by the reduced or absent function of the Wilson disease gene ATP7B on chromosome 13.
|
16644258 |
2006 |
Hepatolenticular Degeneration
|
1.000 |
Biomarker
|
disease |
BEFREE |
There is a physiological requirement for hepatic ATP7B-dependent copper (Cu) transport in bile, which is deficient in Wilson's disease, producing progressive Cu accumulation in the liver or brain with organ damage.
|
24820353 |
2014 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patients in Gran Canaria constitute, overall, one of the largest groups of patients with WD with a high incidence of a single mutation, allowing us to define the early clinical symptoms and the evolution of the disease in patients carrying the ATP7B L708P mutant allele, and the study of WD in a genetically homogeneous background.
|
21832955 |
2012 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This approach could be the method of choice to implement molecular genetic testing in clinical laboratories, even those not especially equipped for DNA analysis and in particular in newly developed molecular genetics centers in countries whose population has not yet been characterized for WD-causing ATP7B gene mutations.
|
14602476 |
2003 |
Hepatolenticular Degeneration
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.
|
23962630 |
2014 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In this study, we report the further results of an ongoing project on the delineation of the spectrum of mutations on the ATP7B gene in Wilson disease (WD) patients of Greek origin.
|
11216666 |
2000 |
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 |
ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND).
|
18203200 |
2008 |