Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alpha-1-antitrypsin (alpha-1-AT) deficiency can lead to juvenile liver cirrhosis and lung emphysema in adulthood.
|
8168837 |
1994 |
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The homozygous deficiency state for alpha 1-antitrypsin is associated with the development of chronic obstructive lung disease and liver cirrhosis.
|
6257988 |
1981 |
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease.
|
29573137 |
2018 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis.
|
6306478 |
1983 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
First, the accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis.
|
17562108 |
2007 |
Liver Cirrhosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Since MZ heterozygotes are almost always, and MS phenotypes sometimes, associated with decreased serum alpha 1-AT levels, and since Z and MZ phenotypes are associated with increased hepatic fibrosis or cirrhosis, these variants may be relevant to problems of spontaneous fibrosis or methotrexate-induced hepatotoxicity in psoriasis. alpha 1-AT deficiency may also contribute to guttate flares with infection and to increased O-2 . production by psoriatic sera-stimulated polymorphonuclear leukocytes (PMNs).
|
6333440 |
1984 |
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
SERPINA1 Pi*Z was not associated with liver fibrosis or cirrhosis.
|
31517326 |
2019 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Extremely deficient levels of alpha-1-antitrypsin (ALPHA1AT) predispose such deficient individuals to the development of emphysema and cirrhosis.
|
767197 |
1976 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Liver transplantation (LT) cures cirrhosis caused by AAT deficiency and restores the normal production of AAT.
|
24019185 |
2013 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |
Liver Cirrhosis
|
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 |