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A1AT deficiency is an autosomal not recessive disorder caused by mutations in the SERPINA1 gene. Individuals with the Z variant retain polymerised protein in the endoplasmic reticulum of hepatocytes, predisposing them to liver disease. This study primarily aimed to uncover the molecular mechanisms t...
ORGANISM(S): Homo sapiens 
Alternative polyadenylation results in different 3’ isoforms of messenger RNA (mRNA) transcripts. Alternative polyadenylation in the 3’ untranslated region (3’UTR) can alter RNA localization, stability and translational efficiency. The SERPINA1 mRNA has two distinct 3’ UTR isoforms, both of which ex...
ORGANISM(S): Homo sapiens 
2025-03-01 | GSE277810 | GEO
Altered polyadenylation site usage in SERPINA1 3’UTR in response to cellular stress affects A1AT protein expression
Role of A1AT in human edometrial stromal cells
RNA-seq of hepatocytes obtained through step-wise differentiation of hIPSCs from a patient with A1AT deficiency and its point mutation-corrected isogenic hIPSC line. Comparison to primary hepatocytes from a healthy donor and an A1AT-deficient patient.
Background: Colorectal cancer (CRC) is one of the major causes of cancer-related death worldwide. Although commercial biomarkers of CRC are currently available, they are still lacking in terms of sensitivity and specificity; thus, searching for reliable blood-based biomarkers are important for the p...
ORGANISM(S): Homo sapiens (Human) 
2023-03-29 | PXD040999 | Pride
Role of A1AT in human trophoblast
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