Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gene expression profile of bone marrow cells from Ogfrl1 deficient mouse at single cell level

ABSTRACT: Human data demonstrates loss of function mutations of OGFRL1 are a cause of autosomal recessive forms of cherubism. However, the gene function of OGFRL1 is unknown. We performed scRNAseq to investigate the gene function in bone marrow cells.

ORGANISM(S): Mus musculus

PROVIDER: GSE247887 | GEO | 2023/12/01

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

The identification of Ogfrl1 expressing cells in jawbone tissue

Project description:Human data demonstrates loss of function mutations of OGFRL1 are a cause of autosomal recessive forms of cherubism. However, the gene function of OGFRL1 is unknown. We performed scRNAseq to investigate the cell types expressing Ogfrl1 in jawbone tissue.

2023-12-01 | GSE247889 | GEO

RNA-seq analysis of scat (CbyJ.Cby-Rasa3scat/Llp) and matched control mice in bone marrow and spleen

Project description:RASA3 (RAS p21 protein activator 3), also called GAPIII or IP4BP (inositol 1,3,4,5-tetrakisphosphate, IP4, binding protein), is a member of the GAP1 family of RAS-GTPase-activating proteins (GAPs). The RAS superfamily of small GTPases includes the subfamily RAP. Small GTPases act as molecular switches, cycling between active GTP-bound and inactive GDP-bound forms. They are activated by guanine nucleotide exchange factors (GEFs), which stimulate GTP loading, and inactivated by GAPs, which accelerate GTP hydrolysis. A major role of RASA3 in hematopoiesis was first identified upon positional cloning of the co-isogenic autosomal recessive mouse mutation, scat (severe combined anemia and thrombocytopenia. The scat phenotype, in addition to severe anemia and thrombocytopenia, includes significant leukopenia as well. The scat disease progresses episodically, with periods of severe crisis interspersed with one or two periods of remission. The RASA3 mutation (G125V) in scat causes mislocalization of RASA3 to the cytosol, abrogating RASA3 GAP activity and increasing active RAS levels in scat erythroid cells. As part of a broader study to analyze the role of RASA3 in hematopoiesis, we performed RNAseq studies to generate hypotheses regarding the progression of the scat disease from periods of crisis to partial remission.

2021-02-10 | GSE148821 | GEO

Project description:Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma

| PRJNA605633 | ENA

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

Project description:Here we describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341.

2021-06-12 | GSE153886 | GEO

miR-155-deficient bone marrow promotes tumor metastasis.

Project description: Not available

| S-EPMC3748167 | biostudies-literature

Single-cell gene expression of control mandibular bone marrow cells and mandibular bone marrow cells under apical periodontitis

Project description:Single-cell gene expression of mandibular bone marrow cells and mandibular bone marrow cells under the stimulation of apical periodontitis were determined by scRNAseq.

2023-02-11 | GSE212975 | GEO

Transcriptome analysis in primary fibroblasts from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

Project description:HOIL-1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the effect of TNF-α and IL-1β on transcriptional changes of primary fibroblasts from HOIL-1-, MYD88- and NEMO-deficient patients.

2012-10-28 | GSE40560 | GEO

Transcriptome analysis in peripheral blood mononuclear cells (PBMC) from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

2012-10-28 | GSE40838 | GEO

Transcriptomic profiling of human bone marrow non-hematopoietic cells

Project description:To solve the heterogeniety of human bone marrow non-hematopoietic cells, we perfomed transcriptomic profiling of bone marrow non-hematopoietic cells using scRNAseq.

2023-03-12 | GSE190965 | GEO

scRNAseq for bone marrow cells from Cebpαcre/+ R26EYFP/+ SbdsF/F (neutropenia) mice vs Cebpαcre/+ R26EYFP/+ Sbds+/+ (Ctrl) mice

Project description:To delineate the potential molecular mechanisms underlying the communication between neutrophils and NK cells, we performed scRNAseq of the neutropenic bone marrow (12 months after transplantation of Cebpacre/+ Sbds +/+ or F/F cells). To this end, bone marrow cells were subsorted into HSC+MPP (LKS CD48-), HPC1 (LKS CD48+CD150-), B and T cells (B220+, CD3+), NK cells (NK1.1+ NKp46+) and a myeloid ‘rest’ fraction (B220-,CD3-,NKp46- and NK1.1-) and sorted fractions pooled together to obtain robust representation of all bone marrow cell types in the scRNAseq data

2022-12-31 | E-MTAB-12428 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

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