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Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy [Bulk]

ABSTRACT: We isolated chondrocytes from an NFAT1 deficient patients osteochondromas surgically removed from the promixal tibia. The cells were either infected with empty vector (labeled "patient") or WT-NFATC2 (labeled "rescue"). We then conducted differential expression, and gene-set enrichment analysis and determined that inflammatory and cell proliferation signals were higher in "patient" chondrocytes

ORGANISM(S): Homo sapiens

PROVIDER: GSE193414 | GEO | 2023/02/20

REPOSITORIES: GEO

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Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy [Single]

Project description:We isolated peripheral blood mononuclear cells from whole blood from an NFAT1 deficient patient and 5 healthy controls. Cells were either treated with PMA (50ng/mL) + 1uM Ionomycin for 4 hours, or left untreated. Cells were then isolated in nanowells, and incubated with single mRNA-capture beads. mRNA from these beads were used for library preparation and sequenced. Raw counts were used for clustering analysis and differential expression. This analysis pointed to defects in NFAT1 deficient patient's B-cells and T-cells that could be contributing the observed B-cell malignancy

2023-02-20 | GSE193410 | GEO

NFAT1 (NFATc2) ChIP-seq in wild-type and Mfn2-/- regenerating myofibers

Project description:We report here the genome-wide deposition of NFAT1 (NFATc2) in wild-type and Mfn2-/- regenerating myofibers.

2022-08-16 | GSE185105 | GEO

Human germline biallelic complete NFAT1 deficiency causes the triad of joint contractures, osteochondromas, and susceptibility to B cell malignancy

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-02-20 | GSE193415 | GEO

Plasmodium-exhausted Nfat1+/+ versus Nfat1-/- CD4+ T cells

Project description:Expression data from antigen-experienced Nfat1+/+ and Nfat1-/- CD4+ T cells following 21 days of Plasmodium yoelii 17XNL infection.

2016-12-31 | GSE85896 | GEO

Transcription factor NFAT1 regulates systemic autoimmunity through modulation of dendritic cell property

Project description:To characterize the roles of NFAT1 in the pathogenesis of autoimmune myasthenia gravis (MG) at a genome-wide scale, we performed gene expression microarray analysis for wild-type (WT) and NFAT1 KO bone marrow-derived dendritic cells (BMDCs) with or without 2h and 12h-stimulation with pam3CSK4.

2017-07-31 | GSE92593 | GEO

Lipocalin 2 (LCN2), the TNF-like receptor TWEAKR and its ligand TWEAK act downstream of NFAT1 to regulate breast cancer cell invasion

Project description:NFAT1 is a transcription factor that elicits breast carcinoma cells to become invasive, contributing thus to formation of metastases. The molecular mechanisms by which NFAT1 operates in this respect are still poorly known. Here, we report that NFAT1 increases Lipocalin 2 (LCN2) mRNA and protein expression by binding to specific sites in the LCN2 gene promoter region. We show that the LCN2 protein is required downstream of NFAT1 to increase breast cancer cell invasion. We demonstrate that the NFAT1/LCN2 axis is sufficient to regulate expression of the TNF-like receptor TWEAKR at the RNA level and of its ligand, TWEAK, at the protein level. We show, however, that TWEAKR mediates an anti-invasive effect in breast cancer cells whereas, depending on LCN2 expression, TWEAK has either anti- and pro-invasive capacities. Thus, we identify LCN2 and TWEAKR/TWEAK as critical downstream effectors of NFAT1 to regulate breast cancer cell motility and invasive capacity.

2015-05-31 | GSE38369 | GEO

Comparison of the tarnscriptome of 4T1 control cells versus shRNA NFAT1 transduced cells (mouse)

Project description:4T1 is a mammary tumor cell line to which the NFAT1 transcription factor is essential for tumorigenesis and metastasis.

2015-02-07 | GSE54771 | GEO

Effects of Nfat1 knockout on the expression of pain-related genes in spinal cord

Project description:To investigate the impact of the Nfat1 knockout on pain processing-associated genes in the spinal cord, we performed microarray analysis.

2022-07-01 | GSE184052 | GEO

Genome wide mapping of NFAT1 binding sites in dendritic cells and of chromatin state in steady and dectin-1 activated dendritic cell line D1

Project description:We generated genome-wide chromatin-state maps of mouse dendritic cells in steady and dectin-1 activated with or without NFAT inhibitor FK506. We found the differential H3K4me3 signatures in these cells. This study provides the epigenetic signatures of steady, dectin-1activated with or without NFAT inhibition. We also generated stable dendritic cell line D1 expressing a V5 tagging NFAT1. This cell line was used to map the global binding sites of NFAT1 upon dectin-1 activation with 10ug/ml curdlan for 30 minutes. examine NFAT1-v5 genome wide binding sites and differential H3K4me3 epigenetic modification in steady, dectinn-1 activated with or without NFAT inhibiton.

2015-01-05 | E-GEOD-59998 | biostudies-arrayexpress

Comparison of the tarnscriptome of 4T1 control cells versus shRNA NFAT1 transduced cells (mouse)

Project description:4T1 is a mammary tumor cell line to which the NFAT1 transcription factor is essential for tumorigenesis and metastasis. control or shRNA transduced 4T1 cells growing in culture were collected and RNA was extracted from each sample and processed for hybridization to Affymetrix arrays.

2015-02-07 | E-GEOD-54771 | biostudies-arrayexpress

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