|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate the cumulative effects of multiple SERPINA1 variants on α1-antitrypsin deficiency, lung function, and emphysema, thus, significantly increasing the frequency of SERPINA1 variation associated with respiratory disease in at-risk smokers.
|
31661293 |
2020 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
In some countries, alpha-1-antitrypsin augmentation therapy is available for severe alpha-1-antitrypsin deficiency.
|
31737347 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
NGS and computational modeling are useful tools that can facilitate earlier, more precise diagnosis, and consideration for AAT therapy in AATD.
|
31307431 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Patients with α-1 antitrypsin (AAT) deficiency were excluded.
|
31268521 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
AATD associated liver injury is caused by hepatotoxic retention of polymerized mutant alpha 1-antitrypsin molecules within the endoplasmic reticulum.
|
31817705 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Intrahepatocytic accumulation of misfolded α1-antitrypsin Z variant (ATZ) is responsible for liver disease in some individuals with α1-antitrypsin deficiency (ATD), characterized by fibrosis/cirrhosis and predisposition to carcinogenesis.
|
29795336 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
The anti-AAT oligonucleotide model of AAT deficiency is useful for compartment-specific, in vivo molecular biology, and sex-specific studies of AAT-deficient emphysema, but it should be used with caution in studies longer than 12-wk duration.
|
31017014 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have recently demonstrated that plasma from an AATD patient homozygous for the Null Bolton allele (<i>Q0<sub>bolton</sub></i> ) contains AAT protein of truncated size.
|
30796179 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
We discuss AAT's potential role in mechanisms regulating human fertility and gestation, with a particular emphasis on the clinical context and on indications for AATD diagnostic testing.
|
30929319 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Methods:</b> We compared the ability of monocyte-derived macrophages cultured in autologous plasma that were obtained immediately before and soon after AAT infusion-given to individuals with AAT deficiency-to control an <i>ex vivo Mycobacterium intracellulare</i> infection.
|
31293581 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Thus, in our cell-based models of α1-antitrypsin (AAT) deficiency, unlike the case for FENIB, we were unable to detect defects in calcium signalling.
|
31754242 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Liver disease related to alpha1-antitrypsin deficiency in French children: The DEFI-ALPHA cohort.
|
30589493 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The patient was referred for genetic testing to determine her SERPINA1 (the gene responsible for AATD) genotype.
|
30579752 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals.
|
30673724 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Efficacy and safety of inhaled α1-antitrypsin in patients with severe α1-antitrypsin deficiency and frequent exacerbations of COPD.
|
31467115 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Given that alpha-1 antitrypsin deficiency is associated with accelerated emphysema progression, these findings underscore the importance of early detection of alpha-1 antitrypsin deficiency and reinforce guidelines that endorse alpha-1 antitrypsin deficiency testing in all adults with fixed air-flow obstruction and first-degree relatives of individuals with severe deficiency of alpha-1 antitrypsin.
|
30914495 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
Targeting the site encoded by SERPINA1*E342K for treating alpha-1 antitrypsin deficiency-associated liver diseases.
|
31116417 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The recommended standard dose (SD; 60 mg/kg/wk) elevates AAT trough serum levels to around 50% of normal; however, outside of slowing emphysema progression, its effects in other clinical outcomes have not been rigorously proven.<b>Objectives:</b> To evaluate the biological effects of normalizing AAT trough levels with double-dose (DD) therapy (120 mg/kg/wk) in subjects with AATD already receiving SD therapy.<b>Methods:</b> Clinically stable subjects were evaluated after 4 weeks of SD therapy, followed by 4 weeks of DD therapy, and 4 weeks after return to SD therapy.
|
30965011 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
The generation of authentic A1AT-D mouse-models has been hampered by the complexity of the mouse Serpina1-gene locus and a model with concurrent lung and liver-disease is still missing.
|
31097772 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
The traditional algorithm for laboratory testing of AATD involves the analysis of AAT concentrations (nephelometry), phenotyping (isoelectric focusing, IEF), and genotyping (polymerase chain reaction, PCR); in selected cases, full sequencing of the SERPINA1 gene can be undertaken.
|
31819391 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Identification of a fully dysfunctional AAT mutant that does not show a secretory defect underlines the importance of accurate genotyping of patients with pulmonary AATD manifestations regardless of the presence of normal levels of AAT in the circulation.
|
30633749 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Approximately 1 in 1600 to 1 in 5000 people have the homozygous Z mutation, which causes AAT misfolding, accumulation in (predominantly) liver cells and low circulating levels of AAT, leading to AAT deficiency (AATD).
|
31179525 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
The liver biopsy showed giant cell transformation of hepatocytes with mild cholestasis, portal and peri-cellular fibrosis with alpha-1-antitrypsin positive granules in the hepatocyte cytoplasm suggesting alpha-1-antitrypsin deficiency.
|
31430439 |
2019 |
|
alpha 1-Antitrypsin Deficiency
|
0.700 |
Biomarker
|
disease |
BEFREE |
AAV-mediated AAT gene therapy has been developed and tested in animal models for AAT deficiency, type 1 diabetes, rheumatoid arthritis, and osteoporosis.
|
30194601 |
2018 |