|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Cystic fibrosis (CF) and alpha-1 antitrypsin (AAT) deficiency are two major clinically relevant pulmonary disorders associated with protein misfolding.
|
22697345 |
2012 |
|
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 |
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 |
These results provide new insight into the mechanism underlying the effect of AAT augmentation therapy in the pulmonary disease associated with AAT deficiency.
|
21060150 |
2010 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease.
|
20170533 |
2010 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
The review covers the history of discovery of the nature and role of A1AT deficiency with particular emphasis on the pathophysiology of the lung disease.
|
20716026 |
2010 |
|
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 |
Intravenous augmentation therapy with purified intravenous alpha-1 antitrypsin replaces the deficient protein and is the only currently approved treatment for alpha-1 antitrypsin deficiency (AATD) related lung disease.
|
20054436 |
2009 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Alpha 1 antitrypsin polymorphism in the Tunisian population with special reference to pulmonary disease.
|
18031952 |
2008 |
|
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 |
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 |
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 |
Alpha-1-antitrypsin (AAT) deficiency is a relatively common genetic disorder that can lead to the development of pulmonary disorders.
|
17906067 |
2007 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
CTD_human |
This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory.
|
17659342 |
2007 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory.
|
17659342 |
2007 |
|
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 |
Biomarker
|
group |
BEFREE |
The modulatory role of GSTP1 in lung disease has only been observed in smokers lacking AAT.
|
15888825 |
2005 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Alpha-1-antitrypsin (AAT) deficiency is one of many factors that may be involved in abnormalities such as liver and lung disease, inflammatory joint diseases, and inflammatory eye diseases.
|
15820772 |
2005 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Reduced alpha1-antitrypsin (AAT) encoded by the gene SERPINA1 is a potential risk for pulmonary disease.
|
15271689 |
2004 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
In this review, we will define further the diagnosis of alpha1AT deficiency and its clinical manifestations and describe the therapeutic strategies that are currently being developed to treat the hepatic and pulmonary disease associated with this condition.
|
11202478 |
2001 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
We conclude that alpha(1)-AT heterozygotes of phenotype PiMZ are at increased risk of hospital admission for OPD if they are first-degree relatives of PiZ index cases only, and that other, yet unknown genetic or environmental factors contribute to the development of lung disease.
|
10619801 |
2000 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
These data are consistent with a modulatory role for NOS3 in destructive lung disease associated with alpha1AT deficiency.
|
10030842 |
1999 |
|
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 |