|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Replacement therapy with purified AAT from human plasma is being used in clinical practice for the lung disease though it is not known whether this influences the outcome of this chronic condition.
|
19783716 |
2009 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
These data support previous findings that deficiency of alpha 1-AT is not associated with more severe pulmonary disease in cystic fibrosis and may be associated with milder lung disease.
|
10195072 |
1998 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
LHGDN |
AAT may be an anti-RGM host-defense factor, and anomalous AAT phenotypes or AAT deficiency may constitute risk factors for pulmonary disease due to RGM.
|
17654345 |
2007 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.
|
21702661 |
2011 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Therapeutic options include augmentation therapy (infusion of purified human plasma AIAT) in pulmonary disease; in end-stage liver disease liver transplantation is an option.
|
17519511 |
2007 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
A genetically engineered mutant of alpha 1-antitrypsin protects connective tissue from neutrophil damage and may be useful in lung disease.
|
6151045 |
1984 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Polymerization of the Z variant alpha-1-antitrypsin (Z-α1AT) results in the most common and severe form of α1AT deficiency (α1ATD), a debilitating genetic disorder whose clinical manifestations range from asymptomatic to fatal liver and/or lung disease.
|
25961288 |
2015 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Alpha-1-antitrypsin types and pulmonary disease among employees at a sulphite pulp factory in northern Sweden.
|
6334642 |
1984 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
We report the results of the functional analysis of two naturally occurring AAT variants, G320R and V321F, previously identified in patients with lung disease.
|
24969485 |
2014 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
The authors hypothesized that 4-PBA could be used to treat both the liver and lung disease of humans with alpha1AT deficiency.
|
15187777 |
2004 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Treatment of A1ATD-associated lung disease includes standard therapies that are also used for the treatment of COPD, in addition to the use of augmentation therapy (that is, infusions of human plasma-derived, purified α1-antitrypsin).
|
27465791 |
2016 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Large strides in gene therapy for AAT deficiency lung disease have led to the development of rAAV1-AAT capable of producing sustained serum AAT levels in clinical trials after intramuscular administration in humans at 3% of the target level.
|
25363251 |
2015 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
AAT may be an anti-RGM host-defense factor, and anomalous AAT phenotypes or AAT deficiency may constitute risk factors for pulmonary disease due to RGM.
|
17654345 |
2007 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literature.
|
3878294 |
1985 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
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 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
LHGDN |
In this study, an AAT polymorphism analysis in correlation with pulmonary diseases was conducted.
|
18725338 |
2008 |
|
SERPINA1
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Heterozygous genotypes and normal levels of A1AT also manifested significant lung disease.
|
30517339 |
2019 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
LHGDN |
Individuals with alpha(1)-AT deficiency and moderate to severe lung function impairment have lung alpha-defensins concentrations in a range known to induce cytotoxicity in vitro in the absence of normal amounts alpha(1)-AT and thus may contribute to the development of lung disease in this population.
|
16137891 |
2005 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Alpha-1 antitrypsin (a1AT) deficiency, in its classical form, is an autosomal recessive disease associated with an increased risk of liver disease in adults and children, and with lung disease in adults.
|
28752463 |
2017 |
|
SERPINA1
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Deficiency of AAT could contribute to reduced lung PLTP activity and elevated neutrophil signaling associated with lung disease.
|
30337619 |
2018 |
|
SERPINA1
|
0.600 |
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 |
|
SERPINA1
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Individuals homozygous for Z (PiZZ) have low levels of circulating mutant Z-AAT protein leading to premature emphysematous lung disease.
|
24328305 |
2014 |
|
SERPINA1
|
0.600 |
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 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is potentially associated with a high degree of liver and/or lung disease.
|
26446624 |
2015 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Increased risk of liver and lung disease has also been reported in heterozygous subjects who carry Z in association with the milder S allele (Glu264Val) or even with wild-type M. However, it is unknown whether Z AAT can co-polymerize with other AAT variants in vivo.
|
29538751 |
2018 |