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GenomicsSingle cell RNA sequencing of AATD iPSC-derived hepatocytes following Z mutation correction by base-editing
Single cell RNA sequencing of AATD iPSC-derived hepatocytes following Z mutation correction by base-editing
PRJNA690576 | ENA
UnknownCardiovascular Risk Associated with Alpha-1 Antitrypsin Deficiency (AATD) Genotypes: A Meta-Analysis with Meta-Regressions.
Not available
S-EPMC10607733 | biostudies-literature
TranscriptomicsSingle cell RNA sequencing of AATD iPSC-derived hepatocytes following Z mutation correction by base-editing
We performed single cell transcriptomic profiling of cells derived from induced human pluripotent stem cells (iPSCs) using hepatocyte directed differentiation protocol which derived iHeps. We used the alpha-1 antitrypsin deficiency (AATD) iPSC line, PiZZ1. On day 15 of differentiation, we transfecte...
ORGANISM(S): Homo sapiens 
2022-01-01 | GSE164417 | GEO
UnknownA Compact Base Editor Rescues AATD-associated Liver and Lung Disease in Mouse Models.
Not available
S-EPMC12248072 | biostudies-literature
UnknownHigher healthcare cost and utilization before and after diagnosis of AATD in the United States.
Not available
S-EPMC11568589 | biostudies-literature
ProteomicsCharacterization of a new variant of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency
Alpha 1-Antitrypsin Deficiency (AATD) is a rare genetic disorder caused by mutations in the SERPINA1 gene, which encodes the Alpha 1-Antitrypsin (AAT) protein. Individuals carrying pathogenic SERPINA1 variants are predisposed to lung and liver damage. The most common AATD-associated SERPINA1 alleles...
ORGANISM(S): Homo sapiens (Human) 
2025-12-08 | PXD060960 | Pride
Aatd Alpha 1-antitrypsin deficiency Liver 
Methylation profilingAlpha-1 Antitrypsin Deficiency Liver Disease, Mutational Homogeneity Modulated by Epigenetic Heterogeneity With Links to Obesity
Alpha-1 antitrypsin deficiency (AATD) liver disease is characterized by marked heterogeneity in presentation and progression, despite a common underlying gene mutation, strongly suggesting the involvement of other genetic and/or epigenetic modifiers. Variation in clinical phenotype has added to the ...
ORGANISM(S): Homo sapiens 
2019-06-10 | GSE119100 | GEO
TranscriptomicsA Multi-Omics Network Identifies Neutrophil Elastase-Positive Extracellular Vesicles in Plasma of Alpha-1 Antitrypsin Deficient Individuals as Accelerants of Lung Inflammation
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by mutations in SERPINA1, leading to chronic obstructive pulmonary disease (COPD) and liver disease. Neutrophils are key regulators of inflammatory signaling networks, however, their dysregulation in AATD and associated molecular mec...
ORGANISM(S): Homo sapiens 
2026-07-31 | GSE291638 | GEO
TranscriptomicsPulmonary gain-of-function toxicity in alpha-1 antitrypsin deficiency
Overall, we found that AAT is expressed in alveolar type 2 cells in addition to alveolar macrophages in primary human lung tissue. AT2s and alveolar macrophages in ZZ-AATD exhibit a distinct transcriptomic signature including inflammatory pathway and unfolded protein response gene set enrichment. AT...
ORGANISM(S): Homo sapiens 
2024-12-12 | GSE227210 | GEO
ProteomicsProteomic analysis of in situ formalin-fixed paraffin-embedded (FFPE) human liver tissues
in situ proteomic analysis (combining laser microdissection of hepatocytes and mass spectrometry analysis) on formalin-fixed paraffin-embedded (FFPE) human liver tissues of 4 ZZ-Alpha 1-Antitrypsin Deficiency (AATD) pediatric patients and 4 ZZ-AATD adult patients that underwent liver transplantation...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD022994 | Pride
Quantitative proteome Liver Hepatocyte Alpha 1-antitrypsin deficiency 
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