|
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 |
|
rs1555291285
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The first patient (male, 31 years) underwent orthotopic liver transplantation (OLT) because of fulminant WD.He was homozygous for p.G710A.
|
31169307 |
2019 |
|
rs191312027
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The global prevalence of Wilson disease from next-generation sequencing data.
|
30254379 |
2019 |
|
rs28942076
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
|
rs768671894
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
|
30232804 |
2019 |
|
rs732774
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B properties in vitro and influence serum copper (Cu) status in vivo.
|
31070637 |
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 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population.
|
29674751 |
2018 |
|
rs121907990
|
|
|
0.820 |
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 |
|
rs1021025464
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
|
30087448 |
2018 |
|
rs1331370011
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
|
30097039 |
2018 |
|
rs1566598496
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
|
29649982 |
2018 |
|
rs749363958
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
|
29649982 |
2018 |
|
rs28942074
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
|
27982432 |
2017 |
|
rs28942074
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs76151636
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs121907990
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs121908000
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs201038679
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs121907994
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |