Project description:Fanconi anemia (FA) is a rare genetic disorder characterized by genomic instability, developmental defects and bone marrow failure. Homeostasis of hematopoietic stem cells (HSCs) in the bone marrow partly relies on their direct or indirect interactions with the mesenchymal stem/stromal cells (MSCs). miRNAs can play a critical role during these interactions. There is no study available so far addressing the miRNA profile of bone marrow (BM-) MSCs in the FA disease state. Non-coding RNA expression profiling was performed in BM-MSCs obtained from Donors, as well as FA patients before bone marrow transplantation (preBMT) using GeneChip miRNA 2.0 array. Quality Control (QC) was performed via Normalized Unscaled Standard Errors (NUSE) and Relative Log Expression (RLE) before further analysis.

2022-09-01 | GSE183226 | GEO

Global miRNA Expression of Bone Marrow Mesenchymal Stem/Stromal Cells in Fanconi Anemia Patients Before Transplantation and their Allogeneic Bone Marrow Donors

Project description:Fanconi anemia (FA) is a rare genetic disorder characterized by genomic instability, developmental defects and bone marrow failure. Homeostasis of hematopoietic stem cells (HSCs) in the bone marrow partly relies on their direct or indirect interactions with the mesenchymal stem/stromal cells (MSCs). miRNAs can play a critical role during these interactions. There is no study available so far addressing the miRNA profile of bone marrow (BM-) MSCs in the FA disease state. Non-coding RNA expression profiling was performed in BM-MSCs obtained from Donors (siblings of FA patients), as well as FA patients before bone marrow transplantation (preBMT) using GeneChip miRNA 2.0 Array. Quality Control (QC) was performed via Normalized Unscaled Standard Errors (NUSE) and Relative Log Expression (RLE) before further analysis.

2022-09-01 | GSE183224 | GEO

Transcription profiling of human bone marrow cells from normal volunteers and from children and adults with Fanconi anemia

Project description:Fanconi anemia (FA) is a rare inherited disease complicated by aplastic anemia. There is evidence that hematopoietic stem cells have lost self replicative capacity and undergo apoptosis when exposed to inhibitory cytokines including interferon gamma and tumor necrosis factor-alpha. We used gene expression microarrays to identify transcriptomal differences between bone marrow cells from normal volunteers and from children and adults with Fanconi anemia Experiment Overall Design: Fanconi anemia patients were identified using mitomycin C and/or diepoxybutane chromosomal breakage analysis. Eleven normal volunteers and 21 FA patients were studied. All FA patients with cytogenetic evidence of clonal evolution were excluded. All FA patients with acute leukemia were excluded. RNA was prepared from freshly obtained low density mononuclear cell fractions.

2009-09-18 | E-GEOD-16334 | biostudies-arrayexpress

MYC Promotes Bone Marrow Stem Cell Dysfunction in Fanconi Anemia

Project description:We profiled primary HSPCs from Fanconi anemia (FA) patients for single cell transcriptome (scRNA-seq) to identify additional determinants of HSPC impairment leading to the bone marrow failure,. Trajectory analysis revealed that early hematopoietic differentiation potential is preserved in FA HSPCs. As expected, p53 and TGFβ pathway genes were overexpressed in HSPCs from FA patients. The oncogene MYC was also identified as one of the top over-expressed genes in FA HSPCs. Interestingly, we observed co-existence of “High-TP53” expressing HSPCs and HighMYC expressing HSPCs in FA bone marrow. Inhibition of MYC expression by the BET bromodomain inhibitor (+)-JQ1 reduced the clonogenic potential of primary HSPCs from FA patients but rescued the physiological/genotoxic stress in HSPCs from FA mice. The “High-MYC” expressing HSPCs exhibited a significant downregulation of cell adhesion genes, such as CXCR4. Consistently, HSPCs in FA patients showed a defect in adhesion to their bone marrow niche resulting in egression from the bone marrow into peripheral blood. We speculate that MYC overexpression impairs HSPC function and contributes to exhaustion of HSPCs in FA bone marrow.

2020-09-08 | GSE157591 | GEO

Global miRNA Expression of Bone Marrow Mesenchymal Stem/Stromal Cells in Fanconi Anemia Patients Before and After Bone Marrow Transplantation, and their Allogeneic Bone Marrow Donors

Project description:Fanconi anemia (FA) is a rare genetic disorder characterized by genomic instability, developmental defects and bone marrow failure. Homeostasis of hematopoietic stem cells (HSCs) in the bone marrow partly relies on their direct or indirect interactions with the mesenchymal stem/stromal cells (MSCs). miRNAs can play a critical role during these interactions. There is no study available so far addressing the miRNA profile of bone marrow (BM-) MSCs in FA disease state. Non-coding RNA expression profiling was performed in BM-MSCs obtained from Donors (siblings of FA patients) as well as FA patients before (preBMT) and after bone marrow transplant (postBMT) using GeneChip miRNA 2.0 Array. Quality Control (QC) was performed via Normalized Unscaled Standard Errors (NUSE) and Relative Log Expression (RLE) before further analysis.

2022-09-01 | GSE183225 | GEO

Global miRNA Expression of Bone Marrow Mesenchymal Stem/Stromal Cells in Fanconi Anemia Patients

Project description:Global miRNA Expression of Bone Marrow Mesenchymal Stem/Stromal Cells in Fanconi Anemia Patients

| PRJNA759638 | ENA

Gene expression based identification of potential genes involved in Fanconi anemia

Project description:Fanconi anemia is a rare inherited hematological disorder which commonly presents with bone marrow failure, developmental abnormalities and susceptibility to cancer with high rates of prevalence in ethnic populations. The objective of this study was to identify potential genes that aid in the progression of the disease or produce its principal symptoms and to hypothesize enabling roles for certain genes that are not part of the central molecular machinery causing the disease. A total of 2 Fanconi anemia samples were collected from patients who displayed characteristic FA features. All of them gave positive results for the DNA breakage test after mitomycin C treatment. Samples were referred by Dr. Sheila Mohan of REFAIN (Registry for Fanconi anemia in India). Whole genome microarray analysis of peripheral blood from 2 patient samples and one normal individual. Sequential analysis of microarray data was carried out using gene ontology and pathway analysis to identify candidate genes.

2010-06-24 | E-GEOD-17233 | biostudies-arrayexpress

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