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Gene expression based identification of potential genes involved in Fanconi anemia

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE17233 | GEO | 2009/07/21

SECONDARY ACCESSION(S): PRJNA119205

REPOSITORIES: GEO

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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

Expression data from normal and Fanconi anemia low density bone marrow cells

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Modeling clonal evolution in Fanconi anemia

Project description:Transcriptomic comparison of stages of clonal evolution of Fanconi anemia modeled using induced pluripotent stem cells.

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BM clonal evolution in Fanconi anemia patients

Project description:Arrays-CGH and/or SNP-array data from n=57 Fanconi anemia BM and n=36 paired fibroblasts

2011-07-28 | E-MTAB-529 | biostudies-arrayexpress

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

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs [ChIP-seq]

Project description:We compared the epigenetic status of the mutant and disease-free iPSCs at the whole genome level. Whole epigenome profiling based on trimethylated H3K4 (H3K4me3) showed concordant epigenetic remodeling in the two corrected clones when compared with two mutant iPSC clones. Examination of the trimethylated H3K4 histone modification in Fanconi anemia patient iPSCs before and after gene correction

2014-05-21 | E-GEOD-57827 | biostudies-arrayexpress

Modeling Fanconi Anemia pathogenesis and therapeutics using integration-free patient iPSCs [RNA-seq]

Project description:We compared the epigenetic status of the mutant and disease-free iPSCs at the whole genome level. Whole epigenome profiling based on trimethylated H3K4 (H3K4me3) showed concordant epigenetic remodeling in the two corrected clones when compared with two mutant iPSC clones. Examination of genome-wide gene expression in Fanconi anemia patient iPSCs before and after gene correction

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Restored Hematopoietic Stem Cell Transcriptional Program in Fanconi Anemia Patients Following Gene Therapy

Project description:The effect of gene therapy in the Hematopoietic stem cells of patients with fanconi anemia has been analyzed. For this purpose 3 fanconi patients bone marrow and a healthy one has been aspirated and CD34+ cells sorted. The data was processed using the usual 10X protocol

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Whole Genome RNA-seq for Fanconi Anemia/Sporadic patient-derived head and neck cancer cell lines

Project description:To identify the major and differential transcriptomic components of Fanconi Anemia head and neck cancer cell lines

2021-11-26 | E-MTAB-11167 | biostudies-arrayexpress

In Fanconi Anemia, impaired accumulation of bone marrow neutrophils during emergency granulopoiesis induces hematopoietic stem cell stress

Project description:Fanconi Anemia (FA) is an inherited disorder of DNA-repair caused by mutation in one of 20+ interrelated genes that repair intra-strand DNA crosslinks and rescue collapsed or stalled replication forks. The most common hematologic abnormality in FA is anemia, but progression to bone marrow failure (BMF), clonal hematopoiesis, or acute myeloid leukemia (AML) may also occur. In prior studies, we found that Fanconi DNA-repair is required for successful emergency granulopoiesis; the process for rapid neutrophil production during the innate immune response. Specifically, Fancc-/- mice did not develop neutrophilia in response to emergency granulopoiesis stimuli, but instead exhibited apoptosis of bone marrow hematopoietic stem cells (HSCs) and differentiating neutrophils. Repeated emergency granulopoiesis challenges induced BMF in most Fancc-/- mice, with AML in survivors. In contrast, we found equivalent emergency granulopoiesis-induced neutrophilia in Fancc-/-Tp53+/- mice and wild type (WT) mice, without BMF in either. Since bone marrow neutrophil accumulation triggers termination of emergency granulopoiesis, we hypothesize neutrophilia protects Fancc-/-Tp53+/- bone marrow from the stress of sustained inflammatory physiology, as experienced by Fancc-/- mice.

2024-08-28 | GSE267161 | GEO

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