Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA377202 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Multicenter International Retrospective Cross-sectional Evaluation of Pulmonary Alveolar Proteinosis (MICEPAP) Trial - RLD 5706
| PRJNA377201 | ENA
Project description:To uncover potential mechanisms underlying the observed Pulmonary Alveolar Proteinosis-like phenotype, we performed a microarray analysis using lung mRNAs from T-bet transgenic mice. Gene expression signatures associated with pulmonary alveolar proteinosis induced by T-bet overexpression in T cells were measured.
2014-11-03 | E-GEOD-62637 | biostudies-arrayexpress
Project description:Isoleucyl-tRNA synthetase 1(IARS1) disorder is a recently identified multi-organ disease, only a limited cases have been reported so far; furthermore, the mechanisms underlying IARS1 mutation and the symptoms remain unknown. In this report, we present four families with seven distinct IARS1 variants, associated with growth retardation, fatty liver, mental development disorder, and severe pulmonary alveolar proteinosis. IARS1-Tyr148Cys/Arg444* mice are established and exhibited pulmonary alveolar proteinosis and other multi-organ disorders that closely mimic human phenotype. Analysis of single cell RNA sequencing of peripheral blood mononuclear cells from patients and lung metabolomics of lung in IARS1-Tyr148Cys/Arg444* mice analysis indicated disruption in phagosome, lysosome and fatty acid metabolism, cholesterol metabolism pathways. IARS1 mutations results in accumulation of surfactant in alveolar macrophages and alveoli in compound heterozygous mouse model, while IARS1 deficiency impairs the post-translation of Cathepsin Z(CTSZ) by inhibiting ubiquitin-mediated degradation. CTSZ depleted also shows abnormal cholesterol degradation and deposition of pulmonary surfactant associated proteins and overexpression CTSZ could rescue IARS1 deficiency related alveolar macrophage disfunction in vitro. These finding suggest that biallelic IARS1 deficiency impair alveolar macrophage, partly by impair CTSZ -dependent degeneration; and IARS1 could consider as a candidate gene in inherit pulmonary alveolar proteinosis.
2025-12-01 | GSE250411 | GEO
Project description:Isoleucyl-tRNA synthetase 1(IARS1) disorder is a recently identified multi-organ disease, only a limited cases have been reported so far; furthermore, the mechanisms underlying IARS1 mutation and the symptoms remain unknown. In this report, we present four families with seven distinct IARS1 variants, associated with growth retardation, fatty liver, mental development disorder, and severe pulmonary alveolar proteinosis. IARS1-Tyr148Cys/Arg444* mice are established and exhibited pulmonary alveolar proteinosis and other multi-organ disorders that closely mimic human phenotype. Analysis of single cell RNA sequencing of peripheral blood mononuclear cells from patients and lung metabolomics of lung in IARS1-Tyr148Cys/Arg444* mice analysis indicated disruption in phagosome, lysosome and fatty acid metabolism, cholesterol metabolism pathways. IARS1 mutations results in accumulation of surfactant in alveolar macrophages and alveoli in compound heterozygous mouse model, while IARS1 deficiency impairs the post-translation of Cathepsin Z(CTSZ) by inhibiting ubiquitin-mediated degradation. CTSZ depleted also shows abnormal cholesterol degradation and deposition of pulmonary surfactant associated proteins and overexpression CTSZ could rescue IARS1 deficiency related alveolar macrophage disfunction in vitro. These finding suggest that biallelic IARS1 deficiency impair alveolar macrophage, partly by impair CTSZ -dependent degeneration; and IARS1 could consider as a candidate gene in inherit pulmonary alveolar proteinosis.
2025-12-01 | GSE250270 | GEO
Project description:To uncover potential mechanisms underlying the observed Pulmonary Alveolar Proteinosis-like phenotype, we performed a microarray analysis using lung mRNAs from T-bet transgenic mice.
2014-11-03 | GSE62637 | GEO
Project description:The potential importance of menin in immune regulation remains unclear. Here, we report that myeloid deletion of Men1 results in the development of spontaneous pulmonary alveolar proteinosis (PAP). This is strongly correlated with impaired development of alveolar macrophages (AM) and epigenetic inactivation of the GM-CSF pathway caused by Men1 deficiency. Mechanistically, menin directly interacts with SETD2 and collectively maintain GM-CSF expression through H3K36me3, which orchestrates AM reprogramming and pulmonary immune homeostasis.
2024-12-25 | GSE240958 | GEO
Project description:Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial) - RLDC 5702
| PRJNA189546 | ENA
Project description:Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial) - RLDC 5702
| PRJNA189545 | ENA
Project description:GM-CSF receptor-β deficient (Csf2rbâ/â or KO) mice develop a lung disease identical to hereditary pulmonary alveolar proteinosis (hPAP) in humans with recessive CSF2RA or CSF2RB mutations that impair GM-CSF receptor function. We performed pulmonary macrophage transplantation (PMT) of bone marrow derived macrophages (BMDMs) without myeloablation in Csf2rbâ/âmice. BMDMs were administered by endotracheal instillation into 2 month-old Csf2rbâ/â mice. Results demonstrated that PMT therapeutic of hPAP in Csf2rbâ/â mice was highly efficacious and durable. Alveolar macrophages were isolated by bronchoalveolar lavage one year after administration subjected to microarray analysis to determine the effects of PMT therapy on the global gene expression profile. Total mRNA was isolated from alveolar macrophages PMT-treated Csf2rbâ/âmice (PMT) and from age-matched, untreated KO mice (KO) and wild-type (C57Bl/6) mice (WT). Total mRNA was evaluated using Affymetrix microarrays (Mouse Gene 1.0 ST Array) to compare the gene expression profiles among the three groups (3 mice/group).
2014-10-01 | E-GEOD-60528 | biostudies-arrayexpress