AIMC Topic: alpha 1-Antitrypsin Deficiency

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Assessing inflammatory protein biomarkers in COPD subjects with and without alpha-1 antitrypsin deficiency.

Respiratory research Jul 15, 2025
RATIONALE: Individuals homozygous for the Alpha-1 Antitrypsin (AAT) Z allele (Pi*ZZ) exhibit heterogeneity in COPD risk. COPD occurrence in non-smokers with AAT deficiency (AATD) suggests that inflammatory processes may contribute to COPD risk indepe...
Humans Biomarkers Female Aged Pulmonary Disease, Chronic Obstructive Male Middle Aged Inflammation Mediators alpha 1-Antitrypsin Deficiency alpha 1-Antitrypsin
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Deep Visual Proteomics maps proteotoxicity in a genetic liver disease.

Nature Apr 16, 2025
Protein misfolding diseases, including α1-antitrypsin deficiency (AATD), pose substantial health challenges, with their cellular progression still poorly understood. We use spatial proteomics by mass spectrometry and machine learning to map AATD in h...
Humans Machine Learning Phenotype Female Male Disease Progression Single-Cell Analysis Proteomics Proteome Liver Cirrhosis Liver Hepatocytes Unfolded Protein Response alpha 1-Antitrypsin Deficiency alpha 1-Antitrypsin
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Machine-Learning Model Identifies Patients With Alpha-1 Antitrypsin Deficiency Using Claims Records.

COPD Sep 23, 2024
Identifying patients with rare diseases like alpha-1 antitrypsin deficiency (AATD) is challenging. Machine-learning models may be trained to identify patients with rare diseases using large-scale, real-world databases, whereas electronic medical reco...
Humans Machine Learning Databases, Factual Electronic Health Records Female Aged Male Middle Aged United States Insurance Claim Review alpha 1-Antitrypsin Deficiency
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