|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
We present three-dimensional organoid culture systems, as a novel tool for modeling Z-AAT-related liver diseases.
|
31832977 |
2020 |
|
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 |
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 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Alpha 1-antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans.
|
31251477 |
2019 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Alpha-1-antitrypsin (A1AT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene and associated with lung emphysema and liver disease.
|
31583408 |
2019 |
|
Liver diseases
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Intrahepatocytic accumulation of misfolded α1-antitrypsin Z variant (ATZ) is responsible for liver disease in some individuals with α1-antitrypsin deficiency (ATD), characterized by fibrosis/cirrhosis and predisposition to carcinogenesis.
|
29795336 |
2019 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Alpha-1 antitrypsin-deficient patients presenting with neonatal cholestasis were likely to develop severe liver disease.
|
30589493 |
2019 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Routine SERPINA1 Z genotyping upon CF diagnosis is warranted for identifying patients worthy of closer liver disease monitoring.
|
30739910 |
2019 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Targeting the site encoded by SERPINA1*E342K for treating alpha-1 antitrypsin deficiency-associated liver diseases.
|
31116417 |
2019 |
|
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 |
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 |
Biomarker
|
group |
BEFREE |
SERPINA1 encodes the alpha-1 antitrypsin (AAT) protein, and severe deficiency of AAT is a major contributor to pulmonary emphysema and liver diseases.
|
29232161 |
2018 |
|
Liver diseases
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved.
|
29996870 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
We previously found that norUDCA improves the α1AT deficiency associated liver disease by promoting autophagic degradation of α1ATZ protein in liver in a mouse model of the disease.
|
30067827 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
The results support the hypothesis that liver disease in this genetic condition may be related to a "toxic gain of function" from accumulation of AAT in hepatocytes.
|
30138687 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Similarly, CF liver disease occurred early (median: 15 years) and showed a concordance of 27.8% in sib-pairs suggesting a scarce contribution of genetic factors; in fact, only 2/15 patients with liver disease in discordant sib-pairs had a deficiency of alpha-1-antitrypsin (a known modifier gene of CF liver phenotype).
|
30577776 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
α-1 Antitrypsin (AAT) deficiency is the most frequently occurring genetic liver disorder.
|
29505478 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Patients with alpha-1 antitrypsin (AAT) deficiency develop progressive lung disease due to the loss of AAT's antiprotease function and liver disease due to a toxic gain of function of the common mutant allele.
|
29597895 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
RNAi-based therapeutics silencing production of hepatic Z-AAT might benefit patients with AATD-associated liver disease.
|
29572094 |
2018 |
|
Liver diseases
|
0.400 |
Biomarker
|
group |
BEFREE |
Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
|
29769092 |
2018 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Classical alpha-1 antitrypsin (a1AT) deficiency is an autosomal recessive disease associated with an increased risk of liver disease in adults and children, and with lung disease in adults (Teckman and Jain, Curr Gastroenterol Rep 16(1):367, 2014).
|
28752441 |
2017 |