|
rs113994095
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome).
|
21235791 |
2011 |
|
rs886037843
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
|
27592148 |
2016 |
|
rs28942074
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The patients carrying p.R778L presented a higher rate of acute liver failure than the patients without p.R778L (9.7% vs. 4.8%).
|
31172689 |
2019 |
|
rs28942074
|
|
|
0.020 |
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 |
|
rs57422427
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Expression of human K8 variants G62C, R341H, or R341C in mice predisposes to acute APAP hepatotoxicity, thereby providing direct evidence for the importance of these variants in human acute liver failure.
|
25963979 |
2015 |
|
rs57422427
|
|
|
0.020 |
GeneticVariation |
BEFREE |
K8 R341H was more common in white (P = .01) and G434S was more common in African-American (P = .02) ALF patients versus controls.
|
20538000 |
2010 |
|
rs1135840
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 2 most common variants, rs4940595 and rs1135840, of the SERPINB11 and CYP2D6 genes, respectively, found in our patients with ALF have been described as potentially important in the adaptive response combating the emergence of infectious diseases and associated with hepatotoxicity of antituberculous therapy, respectively.
|
31609742 |
2019 |
|
rs11554495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression of human K8 variants G62C, R341H, or R341C in mice predisposes to acute APAP hepatotoxicity, thereby providing direct evidence for the importance of these variants in human acute liver failure.
|
25963979 |
2015 |
|
rs1474868
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MFN2 gene polymorphisms (rs873457, rs2336384, rs1474868, rs4846085 and rs2236055) may be associated with ALF and the rs873457 and rs4846085 polymorphisms are correlated with the risk and prognosis of ALF.
|
28513770 |
2017 |
|
rs2236055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MFN2 gene polymorphisms (rs873457, rs2336384, rs1474868, rs4846085 and rs2236055) may be associated with ALF and the rs873457 and rs4846085 polymorphisms are correlated with the risk and prognosis of ALF.
|
28513770 |
2017 |
|
rs369698072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Absence of severe liver problems in this case and SOPH-affected Yakut subjects suggests that individuals carrying the NBAS missense mutation p.(Arg1914His) are less susceptible to developing ALF.
|
28031453 |
2017 |
|
rs4846085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Blood ammonia and LA levels were independent risk factors and the CC genotype of rs873457 and the CC genotype of rs4846085 were protective factors for ALF.
|
28513770 |
2017 |
|
rs58573614
|
|
|
0.010 |
GeneticVariation |
BEFREE |
K8 R341H was more common in white (P = .01) and G434S was more common in African-American (P = .02) ALF patients versus controls.
|
20538000 |
2010 |
|
rs62636489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Expression of human K8 variants G62C, R341H, or R341C in mice predisposes to acute APAP hepatotoxicity, thereby providing direct evidence for the importance of these variants in human acute liver failure.
|
25963979 |
2015 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, a 22 year old female with angiographically proven BCS secondary to JAK2/V617F positive Polycythemia vera on therapeutic warfarin presented with acute liver failure (ALF).
|
26626649 |
2016 |
|
rs8330
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, the prevalence of rs8330 was significantly lower (P = 0.027, χ(2) test) in patients who had acute liver failure from unintentional acetaminophen overdose compared with patients with acute liver failure from other causes or a race- or ethnicity-matched population.
|
23408116 |
2013 |
|
rs873457
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs4846085 and rs873457 polymorphisms were both independent factors affecting the prognosis of ALF patients.
|
28513770 |
2017 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
|
27987238 |
2017 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
|
22931735 |
2012 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
We characterise a novel splice site mutation in POLG found in trans with the p.A467T mutation in a 3.5 years old boy with valproic acid induced acute liver failure (Alpers-Huttenlocher syndrome).
|
21235791 |
2011 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
|
18546343 |
2008 |
|
rs113994095
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
|
19766516 |
2010 |