|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity.
|
17160357 |
2007 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Taken together, we have provided further evidence that the His1069Gln mutation is the prevalent ATP7B mutation in central-european WD patients.
|
17660582 |
2007 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation.
|
9887381 |
1999 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
R778L mutation is mostly observed in Chinese, Japanese and Korean patients, whereas the H1069Q point mutation in the ATP7B gene is the most frequent mutation in European patients with WD.
|
16310588 |
2005 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
|
15519648 |
2004 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
These results open the way to attempt developing a pharmacologically active peptide to specifically contrast the Wilson disease form caused by the ATP7B-H1069Q mutant.
|
29954118 |
2018 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
We screened 53 patients with Wilson's disease for the H1069Q mutation by the melting curve analysis.
|
11758609 |
2001 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
H1069Q mutation is highly prevalent in Romanian WD patients and first degree relatives, similar to other central and continental western European populations.
|
22720308 |
2012 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Thirty-two (39%) Wilson disease patients were homozygous and 39 (48%) heterozygous for the H1069Q mutation (allele frequency 63%).
|
11690702 |
2001 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Suppression of these pathways with RNA interference or specific chemical inhibitors results in the substantial rescue of ATP7B(H1069Q) (as well as that of several other WD-causing mutants) from the endoplasmic reticulum to the trans-Golgi network compartment, in recovery of its Cu-dependent trafficking, and in reduction of intracellular Cu levels.
|
26660341 |
2016 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The c.3207C>A (p</span>.H1069Q) missense mutation is the most characteristic mutation for Lithuanian patients with WD.
|
18855987 |
2008 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
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 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells.
|
25134866 |
2014 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
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 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common Wilson disease (WD) mutations p.H1069Q, p.R778L and p.C271*, found in the ATP7B gene encoding a liver copper transporter, were studied.
|
27122662 |
2016 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).
|
12885331 |
2003 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Wild type and the H1069Q mutant could rescue delta ccc2, however, the N1270S mutant could not, reflecting phenotypic variability of Wilson disease.
|
9654149 |
1998 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The H1069Q point mutation is frequent in Hungarian patients with WD and appears to have originated from a single founder in Eastern Europe.
|
11857545 |
2002 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
In hepatocytes, ATP7B was localized in trans-Golgi vesicles, whereas H1069Q-ATP7B was trapped in the endoplasmic reticulum.
|
12557139 |
2003 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism.
|
16211609 |
2006 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population.
|
29674751 |
2018 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The common His1069Gln mutation accounted for 42% of all WND chromosomes in the German series and the haplotype C was found to be highly predictive for this mutation.
|
9887381 |
1999 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
|
19937698 |
2009 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Diverse functional properties of Wilson disease ATP7B variants.
|
22240481 |
2012 |
|
rs76151636
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
|
9724794 |
1998 |