|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Alpha 1 antitrypsin (A1AT) deficiency (A1ATD) is potentially associated with a high degree of liver and/or lung disease.
|
26446624 |
2015 |
|
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 |
GeneticVariation
|
group |
BEFREE |
Cigarette smoke has been shown to be particularly detrimental in AAT deficient individuals during the development of lung disease.
|
26768576 |
2016 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Misfolding, polymerization, and defective secretion of functional alpha-1 antitrypsin underlies the predisposition to severe liver and lung disease in alpha-1 antitrypsin deficiency.
|
26091018 |
2016 |
|
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 |
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 |
In individuals with AAT deficiency (AATD), AAT is retained in liver cells, which predisposes them to liver disease, and does not reach lung tissues through circulation, where it normally acts as the primary natural regulator of proteolytic activity in the pulmonary tissues, which thus leads to lung disease.
|
28234047 |
2017 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease.
|
28915894 |
2017 |
|
SERPINA1
|
0.600 |
AlteredExpression
|
group |
BEFREE |
The low AAT concentration can result in uninhibited neutrophil elastase activity in the lung, leading to pulmonary tissue damage and lung disease.
|
28752443 |
2017 |