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Proteomics,MultiomicsISG15 counteracts Listeria monocytogenes infection
ISG15 is primarily documented as an interferon-stimulated, ubiquitin-like protein (ubl), which has anti-viral activity. Although ISG15 was the founding member of the ubl protein family, very little is known about its function. We have found that ISG15 expression in non-phagocytic cells is dramatic...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080750 | MassIVE
ProteomicsIL-36 is a hallmark of Netherton syndrome with type I IFN, Th2 and Th9 responses distinguishing its dual clinical manifestations
Netherton syndrome (NS) is a rare recessive skin disorder caused by loss-of-function mutations in the gene SPINK5 encoding the protease inhibitor LEKTI. NS patients suffer from a severe skin barrier defect, display inflammatory skin lesions and superficial scaling with atopic manifestations. They ca...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2021-01-18 | MSV000086716 | MassIVE
MetabolomicsLipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy
As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic mutations causing loss of function of the LPIN1 gene frequently lead to severe rhabdomyolysis bouts in children, though the metabolic alterations an...
2019-01-07 | MTBLS750 | MetaboLights
Genomicsena-DATASET-UNIGE-AL-25-11-2014-11:00:41:737-1967 - samples
Description not provided
EGAD00001001084 | EGA
Genomicsena-DATASET-UNIGE-AL-25-11-2014-10:47:01:523-1962 - samples
Description not provided
EGAD00001001083 | EGA
GenomicsBiased allelic expression in human primary fibroblast single cells.
The study of gene expression in mammalian single cells using genomic technologies now provides the possibility to investigate the patterns of allelic gene expression. We have used single-cell RNA sequencing to detect the allele-specific mRNA level in 203 single human primary fibroblast cells over 13...
EGAS00001001009 | EGA
GenomicsUnige T21
Data Access Committee EGAC00001000269
EGAC00001000269 | EGA
TranscriptomicsIGR_MITF_STUDY_BBRB
A recent study of the characteristics of coexisting melanoma and renal cell carcinoma RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia associated transcription factor (MITF) was proposed to act as a melanoma oncogene;...
ORGANISM(S): Homo sapiens 
2011-09-03 | E-TABM-1198 | biostudies-arrayexpress
TranscriptomicsIGR_CREMEC_CGH_STYDY_LL
Patient-derived xenograft models are considered to represent the heterogeneity of human cancers and might be more relevant preclinical models to evaluate effective therapeutic agents. Our consortium joins efforts to extensively develop and characterize a new collection of patient-derived colorectal ...
ORGANISM(S): Homo sapiens 
2012-07-27 | E-MTAB-992 | biostudies-arrayexpress
Genomics8044f1ed-f7ee-42e5-87e3-6506d5746d96 - samples
Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. Despite improvement of diagnosis and treatment of the primary tumor, there is no effective treatment of metastatic disease and approximately half of patients will die within one year or less following metastases detecti...
EGAD00001004554 | EGA
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