|
SERPINA1
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Its severe form is characterized by very low serum levels of AAT, and it most often affects the lungs (causing early-onset emphysema or chronic obstructive lung disease (COPD)) and/or liver (leading to jaundice and liver cirrhosis in children and adults).
|
30929319 |
2019 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
SERPINA1 Pi*Z was not associated with liver fibrosis or cirrhosis.
|
31517326 |
2019 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alpha 1-antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans.
|
31251477 |
2019 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
We find increased core fucosylation of 5 glycopeptides at the stage of liver fibrosis (i.e., N630 of serotransferrin, N107 of alpha-1-antitrypsin, N253 of plasma protease C1 inhibitor, N397 of ceruloplasmin, and N86 of vitronectin), increase of additional 6 glycopeptides at the stage of cirrhosis (i.e., N138 and N762 of ceruloplasmin, N354 of clusterin, N187 of hemopexin, N71 of immunoglobulin J chain, and N127 of lumican), while the degree of core fucosylation of 10 glycopeptides did not change.
|
29427759 |
2018 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease.
|
29573137 |
2018 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alpha-1-Antitrypsin (AAT) deficiency (AATD) is a hereditary disorder that manifests primarily as pulmonary emphysema and liver cirrhosis.
|
30103740 |
2018 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Four patients had moderate to wd-HCC in the context of pre-existing liver disease with cirrhosis (progressive familial intrahepatic cholestasis type-2 = 2, alpha-1 antitrypsin deficiency = 1, Alagille syndrome = 1).
|
29968976 |
2018 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
The PiZ mutation in AAT (SERPINA1) results in mis-folded AAT protein (Z-AAT) accumulating in hepatocytes, leading to fibrosis and cirrhosis.
|
29572094 |
2018 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The altered proteins are related to the development of liver pathology, such as cirrhosis (α1-antiproteinase), thrombosis (fibrinogen, plasminogen), and inflammation (mannose-binding protein A, complement C4, complement factor B), contributing to liver steatosis or hepatic cell death.
|
28633871 |
2017 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown.
|
28328804 |
2017 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Liver injury resulting from this gain-of-toxic function mechanism in which mutant AAT retained in the ER initiates a series of pathologic events, eventually culminating at liver cirrhosis and HCC.
|
28927525 |
2017 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A significant deviation in AAT genotypes frequencies from the Hardy-Weinberg equilibrium in the adult cirrhosis group occurred due to a higher observed frequency than expected for the Pi ZZ homozygous genotype.Pi ZZ in adults may be considered as the risk factor for liver cirrhosis.
|
28178162 |
2017 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis.
|
29032169 |
2017 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes.
|
27246852 |
2016 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
CTD_human |
AAT deficiency is a genetic disease that manifests with emphysema and liver cirrhosis due to the accumulation of a misfolded AAT mutant in hepatocytes.
|
25579632 |
2015 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Liver transplantation (LT) cures cirrhosis caused by AAT deficiency and restores the normal production of AAT.
|
24019185 |
2013 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
It is estimated that in about 1% of all liver transplant candidates liver cirrhosis is caused by hereditary homozygous α1‑antitrypsin (AAT) deficiency.
|
23235492 |
2013 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The Z variant (Glu342Lys) of α(1)-antitrypsin (AT) polymerizes and accumulates in the hepatocyte endoplasmic reticulum (ER) predisposing to neonatal hepatitis and liver cirrhosis.
|
22425623 |
2012 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This results in a group of diseases termed the serpinopathies, which are typified by mutations of α(1)-antitrypsin and neuroserpin in association with cirrhosis and the dementia familial encephalopathy with neuroserpin inclusion bodies, respectively.
|
21624056 |
2011 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
HFE and alpha-1 antitrypsin polymorphisms were characterized in 200 Egyptian patients with HCV infection (100 patients complicated with cirrhosis, 100 patients with HCC) and 100 healthy subjects who had no history of any malignancy.
|
21925577 |
2011 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
BEFREE |
α(1)-Antitrypsin (α1AT) deficiency is a disease with multiple manifestations, including cirrhosis and emphysema, caused by the accumulation of stable polymers of mutant protein in the endoplasmic reticulum of hepatocytes.
|
21909074 |
2011 |
|
SERPINA1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model.
|
20511674 |
2010 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example the polymerization of mutant alpha(1)-antitrypsin leads to the accumulation of ordered polymers within the endoplasmic reticulum of hepatocytes in association with cirrhosis.
|
19164889 |
2009 |
|
SERPINA1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma.
|
19961268 |
2009 |