|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Alpha-1-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINA1 gene and predisposes to develop pulmonary emphysema and, less frequently, liver disease.
|
28947017 |
2017 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals.
|
30673724 |
2019 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Deficiency in the serine protease inhibitor, alpha-1 antitrypsin (AAT), is known to cause emphysema and liver disease.
|
26005342 |
2015 |
|
Liver diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The PiZZ women taking medication influencing liver enzymes had significantly higher GGT than the PiMM women on the corresponding treatment (P = 0.023).These AAT-deficient individuals identified by neonatal screening have normal plasma levels of liver function tests, and no clinical signs indicating liver disease at the age of 37 to 40 years.
|
28328804 |
2017 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Over the years, numerous strategies have been employed for the gene therapy of both AAT-deficient lung disease and liver disease.
|
21498872 |
2011 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
This observation is the first of a patient with heterozygous Mmalton genotype associated with an alpha1AT deficiency that induced severe liver disease requiring orthotopic liver transplantation.
|
11468249 |
2001 |
|
Liver diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The most frequent disease-associated mutations include the S allele and the Z allele of SERPINA1, which lead to the accumulation of misfolded α1-antitrypsin in hepatocytes, endoplasmic reticulum stress, low circulating levels of α1-antitrypsin and liver disease.
|
27465791 |
2016 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
There is no specific treatment for COPD but understanding the pathophysiology of the disease in A1AT deficiency has led to strategies being used or developed to prevent the lung and liver disease.
|
20716026 |
2010 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the SERPINA1 gene can lead to AAT deficiency (AATD) which is associated with a substantially increased risk of lung and liver disease.
|
25425243 |
2014 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Net synthesis of stress proteins is not increased in individuals with another variant of the alpha 1-AT gene (PiS alpha 1-AT) and is not increased in individuals with severe liver disease but a normal alpha 1-AT haplotype (PiM alpha 1-AT).
|
2553776 |
1989 |
|
Liver diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
This protein deposition can lead to liver disease, with the resulting low circulating levels of AAT predisposing to early-onset emphysema due to dysregulation of elastinolytic activity in the lungs.
|
28504839 |
2017 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Further studies are necessary to elucidate the frequency of various alpha 1-antitrypsin variants and the clinical relevance with respect to liver diseases in Thailand.
|
9681126 |
1998 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Alpha-1-antitrypsin (AT) deficiency is a relatively common autosomal co-dominant disorder, which causes chronic lung and liver disease.
|
18617899 |
2009 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These results provide the first evidence of intracellular co-polymerization of AAT mutants and contribute to understanding the risk of liver disease in SZ and MZ heterozygotes.
|
29538751 |
2018 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The two genetic associations with severe liver disease that had been suspected previously (one SNP for SERPINA1 and another for MAN1B1) were not confirmed in our cohort.
|
28887821 |
2017 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
This case emphasizes the diagnostic importance of alpha 1-antitrypsin and illustrates the point that protease inhibitor phenotyping without family genotyping may be misleading in heterozygous patients with liver disease.
|
3297908 |
1987 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
To date, the role of AAT in other than lung and liver diseases has not been extensively examined.
|
21367592 |
2011 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
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 diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Alpha-1 antitrypsin (α1AT) deficiency is a common autosomal recessive disorder characterized by a marked reduction in serum α1AT levels, lung and liver disease.
|
24191907 |
2013 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The c.-1973T >C polymorphism located in the SERPINA1 promoter region is found more frequent in A1AT deficiency patients with liver disease compared to patients with pulmonary disease, but data are lacking regarding contribution to the development of liver diseases caused by other aetiologies.
|
20170533 |
2010 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In another multicenter study mutations in alpha-1 antitrypsin (A1AT) and mannose binding lectin genes were found to be independent risk factors for liver disease in CF patients.
|
12124743 |
2002 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
alpha 1-Antitrypsin (alpha 1-AT) deficiency is the most common genetic cause of liver disease in children and genetic disease for which children undergo liver transplantation.
|
9195389 |
1997 |
|
Liver diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
We studied 229 patients with biopsy verified liver disease and compared the plasma levels of alpha 1-antichymotrypsin and alpha 1-antitrypsin.
|
3877579 |
1985 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Biopsies from 3 of 207 patients with liver disease and lacking the Z allele had globular inclusions seen with both PAS and immunoperoxidase techniques. alpha 1-AT globules in absence of the Z allele are most often found in elderly patients with severe disease and high plasma alpha 1-AT concentrations.
|
7024322 |
1981 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
While AGP had the strongest correlation with GlycA, our analysis revealed variation in imputed AAT levels was the most predictive of morbidity and mortality for the widest range of diseases over the eight year follow-up period, including heart failure (meta-analysis hazard ratio = 1.60 per standard deviation increase of AAT, P-value = 1×10-10), influenza and pneumonia (HR = 1.37, P = 6×10-10), and liver diseases (HR = 1.81, P = 1×10-6).
|
31644575 |
2019 |