|
Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
SERPINA1 Pi*Z was not associated with liver fibrosis or cirrhosis.
|
31517326 |
2019 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease.
|
29573137 |
2018 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis.
|
29032169 |
2017 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Liver transplantation (LT) cures cirrhosis caused by AAT deficiency and restores the normal production of AAT.
|
24019185 |
2013 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The formation of polymers underlies the retention of alpha(1)-antitrypsin within hepatocytes and of neuroserpin within neurons to cause cirrhosis and dementia, respectively.
|
19245336 |
2009 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis (Wegener's granulomatosis).
|
16088434 |
2005 |
|
Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The accumulation of polymers underlies the retention of mutants of alpha(1)-antitrypsin and neuroserpin within hepatocytes and neurons to cause cirrhosis and dementia respectively.
|
15787598 |
2005 |
|
Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cirrhosis and carcinoma of the liver affect at least 25% of AAT-deficient adults over the age of 50 years.
|
9447774 |
1997 |
|
Cirrhosis
|
0.100 |
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 |
|
Cirrhosis
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Extremely deficient levels of alpha-1-antitrypsin (ALPHA1AT) predispose such deficient individuals to the development of emphysema and cirrhosis.
|
767197 |
1976 |