|
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 |
Biomarker
|
disease |
CTD_human |
We conclude that men with alpha 1-antitrypsin deficiency may be at higher risk for cirrhosis and primary liver cancer.
|
3485248 |
1986 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
alpha 1-Antitrypsin (AAT) deficiency is associated with predisposition to developing liver cirrhosis in early childhood, and chronic degenerative lung disease in early adult life.
|
7820538 |
1994 |
|
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 |
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 |
|
Liver Cirrhosis
|
0.400 |
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 |
|
Liver Cirrhosis
|
0.400 |
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 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
The presence of the relatively high frequency of A1AT S and HFE H63D allele carriers in Egyptian cases of HCV liver cirrhosis suggest the necessity to implement routine molecular analysis of these genes for detection of risk genotypes among affected families.
|
16802007 |
2006 |
|
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 |
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 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 |
|
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 |
|
Liver Cirrhosis
|
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 |
|
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 |
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 |
|
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 |
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 |
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 |
|
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 |
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 |
|
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 |
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 |