Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Downregulation of UBA1 Expression in Myelodysplastic Syndrome

ABSTRACT: Downregulation of UBA1 Expression in Myelodysplastic Syndrome

PROVIDER: PRJNA998059 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Downregulation of UBA1 Expression in Myelodysplastic Syndrome

Project description:Somatic loss-of-function mutations of the ubiquitin-activating enzyme E1 gene (UBA1) that occur in VEXAS syndrome (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) also occur in myelodysplastic syndrome (MDS). This suggests that impairment of UBA1 activity contributes to the pathogenesis of these diseases, which are both characterized by systemic inflammation. We sought to determine whether abnormal expression of UBA1 in MDS contributes to disease development. We analyzed RNA sequencing results obtained from CD34+ bone marrow hematopoietic stem and progenitor cells of patients with treatment-naive MDS or chronic myelomonocytic leukemia and from heathy donors, and we detected significant downregulation of UBA1 RNA expression in MDS. In patients with MDS without excess blasts, UBA1 downregulation was associated with altered innate immune and autophagy signaling and co-occurred with SF3B1 mutations. Moreover, in cultured human bone marrow hematopoietic stem and progenitor cells and in mice, pharmacologic inhibition of UBA1 led to impaired hematopoietic repopulating activity, particularly in the erythroid compartment. These results indicate that, in addition to somatic mutations, downregulation of UBA1 may play a role in MDS pathogenesis.

2024-10-02 | GSE238153 | GEO

Myelodysplastic syndrome: NUP98-HoxD13 (NHD13) expression effect on hematopoietic stem cells

Project description:Analysis of Lin-c-Kit+Sca-1- haematopoietic stem cells (HSCs) expressing the Nup98-HoxD13 (NHD13) fusion gene. NHD13 induces myelodysplastic syndrome (MDS) in mice. Results provide insight into the molecular basis of the myelodysplastic phenotype WT mouse HSCs were compared to an NHD13 mutant sequenced in triplicate on a HiSeq 2000

2016-07-03 | E-GEOD-66264 | biostudies-arrayexpress

Myelodysplastic syndrome: NUP98-HoxD13 (NHD13) expression effect on hematopoietic stem cells

2016-01-01 | GSE66264 | GEO

Understanding Early Stage Myelodysplastic Syndrome Pathobiology

Project description:Understanding Early Stage Myelodysplastic Syndrome Pathobiology

| PRJNA476461 | ENA

Predictors of Myelodysplastic Syndrome in Minnesota

Project description:Predictors of Myelodysplastic Syndrome in Minnesota

| PRJNA849699 | ENA

Predictors of Myelodysplastic Syndrome in Minnesota

Project description:Predictors of Myelodysplastic Syndrome in Minnesota

| PRJNA849700 | ENA

Gene expression profiling in myelodysplastic syndrome patients treated with deferasirox

Project description:Deferasirox (DFX) is an oral iron chelator used to reduce iron overload caused by frequent red blood cell transfusions in anemic myelodysplastic syndrome (MDS) patients. To study molecular mechanisms by which DFX improves outcome in MDS, we analyzed gene expression patterns in MDS patients before and after DFX therapy.

2020-11-04 | GSE160727 | GEO

Aberrant alternative splicing profiling for myelodysplastic syndrome (MDS) patients

Project description:Transcriptome analysis of total RNA from bone marrow (BM) mononuclear cells of MDS patients and normal dornors Global gene expression and alternative splicing profiling among patients with myelodysplastic syndrome (MDS) compared with normal donors

2018-12-05 | GSE107400 | GEO

Gene expression profiling in myelodysplastic syndrome patients treated with deferasirox

Project description:Gene expression profiling in myelodysplastic syndrome patients treated with deferasirox

| PRJNA674306 | ENA

5q- Myelodysplastic Syndrome Masquerading as Diamond Blackfan Anemia

Project description:Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. However, presently only 50-60% of patients have an identifiable genetic lesion by ribosomal protein gene sequencing. Using genome-wide SNP array to evaluate for regions of recurrent copy variation, we identified 2 patients with mosaic loss in the region of the the chromosome 5-deleted region involved in somatically-acquired 5q- myelodysplastic syndrome.

2013-11-05 | GSE42570 | GEO

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