|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS.
|
31010795 |
2020 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene.
|
31783295 |
2019 |
|
rs76151636
|
|
|
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
|
|
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.
|
30558096 |
2018 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs).
|
29358698 |
2018 |
|
rs76151636
|
|
|
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
|
|
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations.
|
27706781 |
2016 |
|
rs76151636
|
|
|
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
|
|
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis.
|
24878384 |
2014 |
|
rs76151636
|
|
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles.
|
23275100 |
2013 |
|
rs76151636
|
|
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene.
|
21593220 |
2011 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence.
|
18034201 |
2008 |
|
rs76151636
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism.
|
16211609 |
2006 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study (i) we firstly observed that ApoE epsilon3/3 did not delay the onset of WD; (ii) no association between ApoE genotype and WD clinical presentation in Chinese Han children, including those patients homozygous for R778L.
|
16310588 |
2005 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In contrast to direct DNA sequencing, direct mutation detection by using allele-specific probes is rapid and clinically very helpful, if a mutation occurs with a reasonable frequency in the population (ie, H1069Q in European WD patients or R778L in WD patients from the Far East).
|
16233999 |
2005 |
|
rs76151636
|
|
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
There is a correlation between R778L and hepatic manifestations in WD patient.
|
14966923 |
2004 |