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TranscriptomicsAnalysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1
The near-normalization of constitutive cytokine and matrix release following rescue by HPS1 transduction of HPM cells suggests that HPS-1 HuMCs may contribute to pulmonary fibrosis and constitute a target for therapeutic intervention. Microarray analysis of HPS-1 HuMCs and non-transduced HPM cells c...
ORGANISM(S): Homo sapiens 
2016-07-01 | E-GEOD-83920 | biostudies-arrayexpress
UnknownHermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Not available
S-EPMC2860733 | biostudies-literature
UnknownThe ET-1-mediated carbonylation and degradation of ANXA1 induce inflammatory phenotype and proliferation of pulmonary artery smooth muscle cells in HPS.
Not available
S-EPMC5393570 | biostudies-literature
ProteomicsHermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity through a pathogenic lipid metabolism-mTOR circuit
Mendelian diseases that present with immune-mediated disorders can provide insights into the molecular mechanisms that drive inflammation. Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking involving the BLOC-3 complex. The presence of inflammatory complication...
ORGANISM(S): Homo sapiens (Human) 
2022-11-02 | PXD024435 | Pride
Lipid metabolism Mtor Hps-1 
ProteomicsInsights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model
Hermansky-Pudlak syndrome type 1 (HPS-1) is a rare, autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3). Impaired kidney function is among its clinical manifestations. To investigate HPS-1 renal involvement, we employed 1D-gel-LC–MS/MS a...
ORGANISM(S): Homo sapiens (Human) 
2025-07-07 | PXD063765 | Pride
Proteomics Extracellular vesicles Renal pathology Hermansky-pudlak syndrome Tamm-horsfall protein 
Methylation profilingWidespread monoallelic methylation of colorectal cancer associated tumour suppressor genes, including multiple Wnt pathway inhibitors, in Hyperplastic Polyposis Syndrome.
Hyperplastic Polyposis Syndrome (HPS) is a condition associated with multiple serrated polyps, and an increased risk of colorectal cancer (CRC). The majority of CRCs arising in HPS show a CpG island methylator phenotype (CIMP) that encompasses several common tumor suppressor genes, including regulat...
ORGANISM(S): Homo sapiens 
2014-12-01 | GSE34068 | GEO
TranscriptomicsAnalysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1
The near-normalization of constitutive cytokine and matrix release following rescue by HPS1 transduction of HPM cells suggests that HPS-1 HuMCs may contribute to pulmonary fibrosis and constitute a target for therapeutic intervention. Microarray analysis of HPS-1 HuMCs and non-transduced HPM cells c...
ORGANISM(S): Homo sapiens 
2016-07-01 | GSE83920 | GEO
TranscriptomicsType 2 innate immunity promotes the development of pulmonary fibrosis in Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome (HPS), particularly in types 1 and 4, is characterized by progressive pulmonary fibrosis, a major cause of morbidity and mortality. However, the precise mechanisms driving pulmonary fibrosis in HPS are not fully elucidated. Our previous studies have suggested that CHI3L1-dr...
ORGANISM(S): Mus musculus 
2024-10-11 | GSE278788 | GEO
TranscriptomicsThe Immunome in Two Inherited Forms of Pulmonary Fibrosis
We analyzed via microarray gene expression profiles from patients with familial pulmonary fibrosis and HPS-1 pulmonary fibrosis collected under IRB-approved protocols.
ORGANISM(S): Homo sapiens 
2018-01-10 | GSE107797 | GEO
TranscriptomicsKinetic gene expression profiles of chicken macrophage HD11 cells in response to endotoxin from Salmonella typhimurium-798
HD11 cells were stimulated with 1 ug/ml endotoxin from ST-798 for 1, 2, 4 and 8 hours Cells were harvested at 1, 2, 4 and 8 hrs post stimulation and RNA was isolated from these cells and microarray was conducted for these RNA samples using affymetrix genechips The microarray experiment was conducted...
ORGANISM(S): Gallus gallus 
2010-10-19 | E-GEOD-23881 | biostudies-arrayexpress
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