|
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 |
The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence.
|
18034201 |
2008 |
|
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 |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
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 |
There is a correlation between R778L and hepatic manifestations in WD patient.
|
14966923 |
2004 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
More than 200 mutations of Wilson disease gene were found, the most common ones being H1069Q (in Europe) and R778L (in Asia).
|
15554419 |
2004 |
|
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 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
|
9554743 |
1998 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The allele frequency of R778L in Korean patients with Wilson disease was 37.9%, which was significantly higher than those of Japanese and Taiwanese patients.
|
12544487 |
2003 |
|
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 |
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
|
15519648 |
2004 |
|
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 |
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
|
|
|
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 |
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 |
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
|
|
|
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 |