Results 21 to 30 of about 30,547,503 (170)

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

open access: yesRespiratory Research, 2023
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage ...
Tobias Meischl   +12 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

open access: yes, 2022
Hepatology, EarlyView.
Robert J. Fontana   +6 more
wiley   +1 more source

Alpha-1-antitrypsin: a novel human high temperature requirement protease A1 (HTRA1) substrate in human placental tissue. [PDF]

open access: yesPLoS ONE, 2014
The human serine protease high temperature requirement A1 (HTRA1) is highly expressed in the placental tissue, especially in the last trimester of gestation. This suggests that HTRA1 is involved in placental formation and function.
Violette Frochaux   +4 more
doaj   +1 more source

Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD

open access: yesMultidisciplinary Respiratory Medicine, 2017
Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens ...
Ardak Zhumagaliyeva   +12 more
doaj   +1 more source

Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]

open access: yes, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M.   +76 more
core   +2 more sources

Alpha-1 antitrypsin deficiency gut microbiome

open access: yes, 2020
This dataset contains 16S rRNA Illumina MiSeq sequenced samples used in our gut microbiome study in individuals with alpha-1 antitrypsin deficiency (AATD) and controls (non-AATD)
Kirst, ME (University of Florida)
core   +1 more source

Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels [PDF]

open access: yes, 2013
Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood.
Marjo-Riitta Jarvelin   +323 more
core   +2 more sources

Alpha-1 Antitrypsin as a Therapeutic Agent for Conditions not Associated with Alpha-1 Antitrypsin Deficiency

open access: yes, 2015
Alpha-1 antitrypsin is a positive acute phase reactant whose serum level rises in response to inflammatory stress, presumably to balance pro-inflammatory processes.
Wanner, Adam, Adam Wanner
core   +1 more source

Therapeutics: Alpha-1 Antitrypsin Augmentation Therapy

open access: yes, 2017
Subjects with alpha-1 antitrypsin deficiency who develop pulmonary disease are managed following general treatment guidelines, including disease management interventions.
Lascano, Jorge   +3 more
core   +1 more source

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

open access: yesJornal Brasileiro de Pneumologia, 2021
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease.
José R Jardim   +5 more
doaj   +2 more sources

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