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TranscriptomicsRNA-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.
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 
2018-06-26 | E-MTAB-6781 | biostudies-arrayexpress
TranscriptomicsImpaired DNA damage metabolism promotes autoimmunity in TREX1 deficiencyÂ
Constitutive low level DNA damage is linked to innate immune activation. Hierarchical clustering of over 9000 transcripts revealed remarkably similar profiles in a patient with lupus erythematosus and a patient with AGS with up-regulation of genes involved in DNA damage signaling, p53-inducible gene...
ORGANISM(S): Homo sapiens 
2016-05-30 | E-GEOD-59233 | biostudies-arrayexpress
UnknownEvaluation of Automatic Blood Analyzer as Screening Method in Fetomaternal Hemorrhage.
Not available
S-EPMC6413365 | biostudies-literature
UnknownBiochemical and functional characterization of a meiosis-specific Pch2/ORC AAA+ assembly.
Not available
S-EPMC7442955 | biostudies-literature
ProteomicsD vulgaris WT-IPFG07 chemostat comparison
Parallel chemostats of Desulfovibrio vulgaris Hildenborough WT and IPFG07 (DsrC low-expression) mutant were sampled over 5 turnovers at steady-state. Extracted proteins were digested with trypsin and peptides were isotopically labeled for quantification using the diDO-IPTL methodology (Waldbauer et ...
ORGANISM(S): Desulfovibrio Vulgaris Str. Hildenborough (ncbitaxon:882) 
2018-11-26 | MSV000083165 | MassIVE
UnknownReconstructed Human Epidermis: An Alternative Approach for In Vitro Bioequivalence Testing of Topical Products.
Not available
S-EPMC9331624 | biostudies-literature
UnknownHow, what, and why: housing, water & sanitation and wealth patterns in a cross-sectional study of the Guarani Birth Cohort, the first Indigenous birth cohort in Brazil.
Not available
S-EPMC10193232 | biostudies-literature
UnknownQuality of Life and Treatment-Related Side Effects in Patients With HR+/HER2- Advanced Breast Cancer: Findings From a Multicountry Survey.
Not available
S-EPMC10546820 | biostudies-literature
UnknownA trait database and updated checklist for European subterranean spiders.
Not available
S-EPMC9135732 | biostudies-literature
UnknownDynamic association of H3K36me3 with pericentromeric heterochromatin regulates its replication time
Not available
S-SCDT-10_1038-S44319-025-00575-6 | biostudies-other
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