|
SERPINA1
|
0.500 |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alpha-1 Antitrypsin (α1AT) Deficiency is a genetic disease in which accumulation of α1AT mutant Z (α1ATZ) protein in the ER of hepatocytes causes chronic liver injury, liver fibrosis, and hepatocellular carcinoma.
|
30067827 |
2018 |
|
SERPINA1
|
0.500 |
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
|
0.500 |
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
|
0.500 |
Biomarker
|
disease |
CTD_human |
Hepatocellular carcinoma-associated protein markers investigated by MALDI-TOF MS.
|
21472284 |
2012 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the classical form of alpha-1-antitrypsin (AT) deficiency, a mutant protein accumulates in the endoplasmic reticulum of liver cells, causing hepatic fibrosis and hepatocellular carcinoma by a gain-of-toxic function mechanism.
|
21683248 |
2011 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to estimate the frequency of hemochromatosis gene (HFE) mutant alleles (C282Y and H63D) and alpha-1 antitrypsin S/Z variants among Egyptian HCV cirrhotic patients and in hepatocellular carcinoma patients and to evaluate their effects on disease progression.
|
21925577 |
2011 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Homozygous ZZ α-1-antitrypsin (a1AT) deficiency is a common genetic liver disease that causes liver injury and hepatocellular carcinoma (HCC).
|
20890217 |
2010 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma.
|
19961268 |
2009 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to estimate the prevalence of HFE and SERPINA1 (formerly known as alpha1-antitrypsin, AAT) mutations and assess their influence on hepatocellular carcinoma development.
|
18164971 |
2008 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Our objective was to estimate the prevalence of HFE and SERPINA1 (formerly known as alpha1-antitrypsin, AAT) mutations and assess their influence on hepatocellular carcinoma development.
|
18164971 |
2008 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Studies have shown that AIAT heterozygosity can be considered a modifier for hepatitis C virus, end-stage liver disease, cirrhosis and hepatocellular carcinoma.
|
17519511 |
2007 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We determined the genotype of four proposed genetic risk factors for hepatocellular carcinoma [hereditary hemochromatosis (HFE 63 and 282), alpha(1)-antitrypsin deficiency (AAT 342) and cystic fibrosis (CFTR 508)] on formalin-fixed tissue samples, stored for up to 25 years, from 318 patients diagnosed with hepatocellular carcinoma and on plasma or serum samples from 31 of these patients.
|
15668502 |
2005 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Homozygous, PIZZ alpha(1)-antitrypsin (alpha(1)-AT) deficiency is associated with chronic liver disease and hepatocellular carcinoma resulting from the toxic effects of mutant alpha(1)-anti-trypsin Z (alpha(1)-ATZ) protein retained in the endoplasmic reticulum (ER) of hepatocytes.
|
14684378 |
2004 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
LHGDN |
The C-terminal 26-residue peptide of serpin A1 stimulates proliferation of breast and liver cancer cells: role of protein kinase C and CD47.
|
15498560 |
2004 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
This issue may be particularly important for mutant secretory protein alpha(1)-antitrypsin (alpha(1)AT) Z because retention of this mutant protein in the ER can cause severe target organ injury, the chronic hepatitis/hepatocellular carcinoma associated with alpha(1)AT deficiency.
|
11052993 |
2000 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previously, we developed a model for high incidence, endogenously generated hepatocellular carcinoma (HCC), the human alpha-1-antitrypsin (alpha1AT) Z gene transgenic mouse (Z#2).
|
9626974 |
1998 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
None of the homozygous or heterozygous alpha 1 antitrypsin deficient patients had developed hepatocellular carcinoma compared with 3.4% (2 of 59) of the non-PiZ gene carriers (p = 1.0).
|
7615285 |
1995 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
The positive association of serum alpha-1-antitrypsin with tobacco smoking and the previously reported excessive elevation of serum alpha-1-antitrypsin in hepatitis B-negative tobacco-related cases of HCC suggest that alpha-1-antitrypsin is intimately related to the pathogenetic process linking tobacco smoking to HCC.
|
7686528 |
1993 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
We studied 82 patients with primary hepatobiliary cancer; 59 had hepatocellular carcinoma and 23 had bile duct carcinoma. alpha 1-Antitrypsin quantitation and phenotyping were performed in each patient using standard methods.
|
1312055 |
1992 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Greater than 85% of the transport-impaired PiZ variant of human alpha 1-antitrypsin is retained within transfected mouse hepatoma cells and is subjected to intracellular degradation (Le, A., Graham, K., and Sifers, R.N.(1990) J. Biol.Chem.265, 14001-14007).
|
1530934 |
1992 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this study, we show that there is time-dependent and saturable internalization of alpha 1-AT-elastase and alpha 1-AT-trypsin complexes in human hepatoma HepG2 cells.
|
2211587 |
1990 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
A patient is described with micronodular cirrhosis, partial (heterozygous, MZ) deficiency of alpha-1-antitrypsin (AAT) and hepatocellular carcinoma.
|
3005953 |
1985 |
|
SERPINA1
|
0.500 |
Biomarker
|
disease |
BEFREE |
In addition, the apparent sizes of native factor I, transferrin, and alpha-1-antitrypsin secreted by the three hepatoma lines differed due to differences in postsynthetic processing.
|
6327681 |
1984 |
|
SERPINA1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In order to investigate the possible association, we studied the phenotypic distribution of alpha-1-antitrypsin variants (Pi) in 124 cases of HCC.
|
6171495 |
1982 |