|
SERPINA1
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Heterozygous genotypes and normal levels of A1AT also manifested significant lung disease.
|
30517339 |
2019 |
|
SERPINA1
|
0.600 |
GeneticVariation
|
group |
BEFREE |
The SERPINA1 gene encodes α <sub>1</sub> -antitrypsin (AAT), and mutations in the gene are important in the pathophysiology of pulmonary diseases.
|
31298815 |
2019 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
<b>Rationale:</b> Augmentation therapy with intravenous AAT (alpha-1 antitrypsin) is the only specific therapy for individuals with pulmonary disease from AAT deficiency (AATD).
|
30965011 |
2019 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
<b>Rationale:</b> The association between non-tuberculous mycobacterial lung disease and alpha-1-antitrypsin (AAT) deficiency is likely due, in part, to underlying emphysema or bronchiectasis.
|
31293581 |
2019 |
|
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 |
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 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Currently, the available therapy for lung disease associated with AATD is serum purified human AAT injected into patients on a weekly basis.
|
30338221 |
2018 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications.
|
29430176 |
2018 |
|
SERPINA1
|
0.600 |
AlteredExpression
|
group |
BEFREE |
Current treatment options include augmentation therapy with purified AAT for patients with deficient AAT levels and significant lung disease.
|
29984428 |
2018 |
|
SERPINA1
|
0.600 |
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 |
|
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 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Various mutations in AAT cause alpha-1 antitrypsin deficiency (AATD), a rare hereditary disorder that results in liver disease due to accumulation of AAT aggregates and lung disease from excessive neutrophil elastase activity.
|
28752452 |
2017 |
|
SERPINA1
|
0.600 |
Biomarker
|
group |
BEFREE |
Pathophysiology of Alpha-1 Antitrypsin Lung Disease.
|
28752442 |
2017 |
|
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 |
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 |
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 |