|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Routine SERPINA1 Z genotyping upon CF diagnosis is warranted for identifying patients worthy of closer liver disease monitoring.
|
30739910 |
2019 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Similarly, CF liver disease occurred early (median: 15 years) and showed a concordance of 27.8% in sib-pairs suggesting a scarce contribution of genetic factors; in fact, only 2/15 patients with liver disease in discordant sib-pairs had a deficiency of alpha-1-antitrypsin (a known modifier gene of CF liver phenotype).
|
30577776 |
2018 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants of MBL2 exon 1 (A, B, C and D), the IL-8 promoter (-251 A/T), the TNFα promoter (TNF1/TNF2), and SERPINA1 (PI*Z and PI*S) were tested in CF patients and control subjects from northeastern Mexico by PCR-RFLP.
|
24603877 |
2014 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Candidate variants in SCNN1A, SCNN1B, SCNN1G and SERPINA1 in six patients with CF-like phenotypes were confirmed by Sanger sequencing and were further supported by in silico predictive analysis, pedigree studies, sweat test in other family members, and analysis in CF patients and healthy subjects.
|
23837941 |
2014 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Cystic fibrosis (CF) and alpha-1 antitrypsin (AAT) deficiency are two major clinically relevant pulmonary disorders associated with protein misfolding.
|
22697345 |
2012 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Human clinical gene therapy trials for cystic fibrosis and alpha-1 antitrypsin have been performed using a variety of vectors including adenovirus, adeno-associated virus, and nonviral vectors.
|
22642257 |
2012 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
To assess whether any of 9 polymorphisms in 5 candidate genes (alpha(1)-antitrypsin or alpha(1)-antiprotease [SERPINA1], angiotensin-converting enzyme [ACE], glutathione S-transferase [GSTP1], mannose-binding lectin 2 [MBL2], and transforming growth factor beta1 [TGFB1]) are associated with severe liver disease in patients with CF.
|
19738092 |
2009 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
GD was found to have the highest carrier frequency (1:17) followed by CF (1:23), FD (1:29), A1AT (1:65), ML4 (1:67) and FAC (1:77).
|
18264947 |
2008 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
In this study, we investigated the relationship between a polymorphism (1237 G --> A) in the 3' enhancer region of the alpha-1-antitrypsin (AAT) gene and pulmonary disease severity in 320 CF patients recruited from two independent adult referral centers in Ireland, and evaluated the in vivo effect of the polymorphism on AAT levels during acute infection.
|
16617455 |
2006 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We determined the genotype of four proposed genetic risk factors for hepatocellular carcinoma [hereditary hemochromatosis (HFE 63 and 282), alpha(1)-antitrypsin deficiency (AAT 342) and cystic fibrosis (CFTR 508)] on formalin-fixed tissue samples, stored for up to 25 years, from 318 patients diagnosed with hepatocellular carcinoma and on plasma or serum samples from 31 of these patients.
|
15668502 |
2005 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In another multicenter study mutations in alpha-1 antitrypsin (A1AT) and mannose binding lectin genes were found to be independent risk factors for liver disease in CF patients.
|
12124743 |
2002 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Proteinase-antiproteinase imbalances are common in CF and alpha-1-antitrypsin (AAT) deficiency.
|
12372062 |
2002 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We investigated the hypothesis that an enhancer polymorphism in the AAT gene would contribute to pulmonary prognosis in CF.
|
11313771 |
2001 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Despite this, previous studies have shown that patients with CF with a mild deficiency variant of the proteinase inhibitor alpha(1)-antitrypsin have less, rather than more, severe pulmonary disease.
|
11120905 |
2001 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The lung represents an attractive target organ for somatic gene therapy strategy in that, (1) it is easily accessible by vectors, (2) most frequent hereditary disorders, cystic fibrosis (CF) and alpha1-antitrypsin deficiency (alpha1AT), occur in the lung, and (3) carcinoma of the lung is apparently a most common cause of death in humans.
|
11899243 |
2001 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
We conclude that products of inflammation in CF BAL fluid are inhibitory to rAAV transduction, and that these effects may be reversible by AAT.
|
11083501 |
2000 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We examined the relationship between the size of an AAT repeat polymorphism in intron 20 of the NOS1 gene and FENO in 75 patients with CF.
|
11112133 |
2000 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Plasmid-liposome transfer of the alpha 1 antitrypsin gene to cystic fibrosis bronchial epithelial cells prevents elastase-induced cell detachment and cytokine release.
|
8600939 |
1996 |
|
SERPINA1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In 215 Danish patients with CF, homozygous (80%) or heterozygous (20%) for the major CF mutation deltaF508, alpha 1-AT variants were determined.
|
7970905 |
1994 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
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 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Studies carried out in experimental animals show that it is theoretically possible to treat both alpha 1-AT deficiency and cystic fibrosis with gene therapy if the safety hurdles can be overcome to minimize the risks involved.
|
1621744 |
1992 |
|
SERPINA1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The respiratory epithelium is a potential site for somatic gene therapy for the common hereditary disorders alpha 1-antitrypsin (alpha 1AT) deficiency and cystic fibrosis.
|
2017680 |
1991 |
|
SERPINA1
|
0.200 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|