Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

EGAS00001000388-sc-20131009 - samples

ABSTRACT: Primary sclerosing chloangitis is a rare autoimmune disease of the liver (prevalence = 10/100,000) with a mean age of onset of 40 years. We are currently undertaking GWAS and immunochip experiments to identify loci underlying PSC susceptibility. Through our collaborators at the University of Calgary we have access to DNA from three parent-offspring trios where the children required liver transplants due to PSC before the age of 9. These are extremely rare cases indeed and we believe that exome-sequencing represents a powerful means of identifying the causal mutation underlying this severe phenotype.

PROVIDER: EGAD00001000671 | EGA |

REPOSITORIES: EGA

ACCESS DATA

Json Xml

Similar Datasets

Whole exome sequencing of young onset Primary Sclerosing Cholangitis

Project description:Primary sclerosing chloangitis is a rare autoimmune disease of the liver (prevalence = 10/100,000) with a mean age of onset of 40 years. We are currently undertaking GWAS and immunochip experiments to identify loci underlying PSC susceptibility. Through our collaborators at the University of Calgary we have access to DNA from three parent-offspring trios where the children required liver transplants due to PSC before the age of 9. These are extremely rare cases indeed and we believe that exome-sequencing represents a powerful means of identifying the causal mutation underlying this severe phenotype.

| EGAS00001000388 | EGA

oyster mushroom against hepatic steatosis in obese Zucker rats

Project description:Hepatic steatosis is a very common response to liver injury and often attributed to metabolic disorders. Prior studies have demonstrated the efficacy of a biotechnologically produced oyster mushroom (Pleurotus sajor-caju, PSC) in alleviating hepatic steatosis in obese Zucker rats. This study aims to elucidate molecular events underlying the anti-steatotic effects of PSC.

2021-07-27 | PXD022905 | Pride

Single-cell and spatial transcriptomics characterisation of the immunological landscape in the healthy and PSC human liver

Project description:Primary sclerosing cholangitis (PSC) is a rare liver disease characterized by chronic inflammation and irreparable damage to the bile ducts. Due to a limited understanding of the underlying pathogenesis of disease, there remains a paucity of treatment options. As such, we sequenced healthy and diseased livers to compare the activity, interactions, and localization of immune and non-immune cells. This revealed that outside PSC scar regions, hepatocytes are transitioning to bile duct cells, whereas within the scars, there is an accumulation of immune cells. Of these cells, macrophages that typically contribute to tissue repair were enriched in immunoregulatory genes and were less responsive to stimulation. These cells are likely involved in maintaining hepatic inflammation and could be targeted in novel therapeutic development.

2024-01-18 | GSE247128 | GEO

Single-cell and spatial transcriptomics characterisation of the immunological landscape in the healthy and PSC human liver

2024-01-18 | GSE245620 | GEO

Single-cell and spatial transcriptomics characterisation of the immunological landscape in the healthy and PSC human liver

2024-01-18 | GSE243977 | GEO

Single-cell and spatial transcriptomics characterisation of the immunological landscape in the healthy and PSC human liver

2023-10-06 | GSE240429 | GEO

Transcriptomics of Human Liver Ischemia and Reperfusion Injury

Project description:For orthotopic liver transplants, ischemia-reperfusion injury (IRI) is known to compromise allograft survival. To better understand the transcriptomics of immune responses underlying liver transplant IRI, RNA-seq was performed on liver biopsies from 23 IRI+ and 17 IRI- patients, both pre-transplant and post-transplant. Genes that are differentially expressed in IRI+ samples, along with the pathways enriched for by those genes, were identified.

2020-08-07 | GSE151648 | GEO

Serum and bile proteomics reveal candidates for new noninvasive serum markers of primary sclerosing cholangitis and of risk of disease progression and biliary neoplasia.

Project description:Primary sclerosing cholangitis (PSC) is a chronic liver disease characterized by biliary strictures, cholestasis, and an increased risk of cholangiocarcinoma (CCA). Here, we have used label-free quantitative proteomics to analyze serum and bile samples from non-PSC controls and PSC patients, as well as from PSC patients divided into groups according to endoscopic retrograde cholangiography score (with a score of >4 indicating advanced disease) and presence or absence of biliary dysplasia/CCA. Further analyses subsequently identified multiple candidates of new noninvasive serum markers for the diagnosis of PSC, as well as new markers for the prediction of the risk of disease progression and biliary neoplasia for patients already diagnosed with PSC.

2022-08-03 | PXD026693 | Pride

Serum and bile proteomics reveal candidates for new noninvasive serum markers of primary sclerosing cholangitis and of risk of disease progression and biliary neoplasia (BILE)

2022-08-03 | PXD026694 | Pride

Single-cell Atlas of intrahepatic T cells reveals a population of liver-resident naive-like CD4+ T cells expanded in primary sclerosing cholangitis

Project description:The composition of intrahepatic immune cells in primary sclerosing cholangitis (PSC) and their contribution to disease pathogenesis is widely unknown. We here generated a single-cell atlas of intrahepatic T cells in PSC, a type of immune cells that has previously been involved in the pathogenesis of PSC. This atlas provides a valuable data source to the field. Using that atlas, we identified a population of liver-resident naive-like CD4+ T cells which are expanded in livers of patients with PSC compared to healthy and other liver diseases. Trajectory inference suggest that these cells have a propensity to acquire TH17-associated effector functions. Using blood-derived cells naive CD4+ T cells we experimentally prove this propensity. Since TH17-polarized cells are considered to contribute to the development of PSC, our findings point towards a so far underestimated role of naive T cells in PSC.

2021-03-27 | E-MTAB-10143 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data