Lung diseases
|
0.600 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Lung diseases
|
0.600 |
AlteredExpression
|
group |
BEFREE |
To gain insight into the variable expression of lung disease in alpha 1-antitrypsin (alpha 1AT) deficiency, five quantitative variables including forced expiratory volume at 1 sec (FEV1), forced expiratory flow rate between 25 and 75% of forced vital capacity (FEF25-75), total serum alpha 1AT, oxidized serum alpha 1AT, and total serum immunoglobulin E (IgE) were measured in alpha 1AT deficient individuals and their families.
|
1427021 |
1992 |
Lung diseases
|
0.600 |
GeneticVariation
|
group |
BEFREE |
PiZ, a mutant human alpha 1-antitrypsin, is associated with liver and pulmonary disease and is characterized by defective secretion and accumulation of the protein in the endoplasmic reticulum.
|
2379586 |
1990 |
Lung diseases
|
0.600 |
GeneticVariation
|
group |
BEFREE |
We show how these probes can be used for diagnosis and to study molecular variants of alpha 1-antitrypsin which may predispose individuals to develop lung disease.
|
2984979 |
1985 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
0.600 |
Biomarker
|
group |
BEFREE |
Alpha-1-antitrypsin types and pulmonary disease among employees at a sulphite pulp factory in northern Sweden.
|
6334642 |
1984 |
Lung diseases
|
0.600 |
Biomarker
|
group |
BEFREE |
This airspace enlargement may represent the early stage of lung disease in AAT-deficient subjects and suggests that pulmonary anatomic changes may occur long before the onset of clinically and pathologically significant emphysema.
|
6600673 |
1983 |
Lung diseases
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Is the PiF allele of alpha 1-antitrypsin associated with pulmonary disease?
|
6610506 |
1984 |
Lung diseases
|
0.600 |
Biomarker
|
group |
BEFREE |
In this article, we review the literature concerning the basic defect, inheritance, pathogenesis of lung disease, clinical, physiologic, and roentgenographic findings in patients with severe (Pi SZ) deficiency of alpha 1-AT.
|
7046673 |
1982 |
Lung diseases
|
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 |
Lung diseases
|
0.600 |
Biomarker
|
group |
BEFREE |
The common fatal hereditary disorders, alpha 1-antitrypsin (alpha 1AT) deficiency and cystic fibrosis (CF), are clinical models for the common lung diseases, emphysema and chronic bronchitis, respectively.
|
8290311 |
1993 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
0.600 |
GeneticVariation
|
group |
BEFREE |
Reduced alpha1-antitrypsin (AAT) encoded by the gene SERPINA1 is a potential risk for pulmonary disease.
|
15271689 |
2004 |
Lung diseases
|
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 |
Lung diseases
|
0.600 |
Biomarker
|
group |
BEFREE |
The modulatory role of GSTP1 in lung disease has only been observed in smokers lacking AAT.
|
15888825 |
2005 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
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 |
Lung diseases
|
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 |