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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

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

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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.

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

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

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

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

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

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

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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.

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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.

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