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27 results for “Diamond-Blackfan Anemia”
Rps19 R67∆ mutation creates a model of Diamond-Blackfan anemia and reveals downstream mediators of p53 pathway.
<p>Diamond-Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosomal proteins, including S19 (Rps19), a part of the 40S ribosomal subunit. We developed a transgenic model harboring deletion of conserved Arg 67 in <em>RPS19</em>, which is the site of post-translational modification by protein-arginine methyl transferase family and could show that the defect in Rps19 causes phenotype in perfect overlap with the DBA including hematologic dysfunctions, hypotrophy, intrinsic anemia, severe craniofacial, skeletal, urogenital, cardiovascular, and cerebral abnormalities leading to premature lethality during the adolescence of the mouse. This DBA mouse model exhibited activation of the Trp53 signaling pathway in hematopoietic stem cells (HSCs) leading to reduced erythroid lineage development. Competitive transplantation assays using Rps19-deficient bone marrow cells confirmed that HSCs and their progeny lineages were affected while their differentiation was rescued after inactivation of the tumor suppressor Trp53 showing that the development of the DBA phenotype significantly involves non-canonical components of the p53 signaling pathway in the etiopathogenesis of DBA with the Rps19R67∆ mutation leading to the disrupted hematopoietic hierarchy starting at the stage of short-term repopulating stem cells. The activated p53 pathway was mediated by downstream molecules Zmat3, Phlda3, and Eda2r, whose overall function in the pathology of DBA involve erythroid differentiation blockade coupled with cell proliferation and survival disruption. To conclude, the new DBA model represents a powerful tool for exploring new therapeutic options for DBA.</p>
Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia
<p>Ribosome dysfunction underlies the pathogenesis of many cancers and heritable ribosomopathies. Here we investigate how mutations in either ribosomal protein large (RPL) or ribosomal protein small (RPS) subunit genes selectively affect erythroid progenitor development and clinical phenotypes in Diamond-Blackfan anemia (DBA), a rare ribosomopathy with limited therapeutic options. Using single-cell assays of patient-derived bone marrow, we delineated two distinct cellular trajectories segregating with ribosomal protein genotypes: almost complete loss of erythroid specification were observed in <em>RPS</em>-DBA. In contrast, we observed relative preservation of qualitatively abnormal erythroid progenitors and precursors in <em>RPL</em>-DBA. Although both DBA genotypes exhibited a pro-inflammatory bone marrow milieu, <em>RPS</em>-DBA was characterized by erythroid differentiation arrest, whereas <em>RPL</em>-DBA was characterized by preserved GATA1 expression and activity. Compensatory stress erythropoiesis in <em>RPL</em>-DBA exhibited disordered differentiation underpinned by an altered glucocorticoid molecular signature, including reduced <em>ZFP36L2</em> expression<em>,</em> leading to milder anemia and improved corticosteroid response. This integrative analysis approach identified distinct pathways of erythroid failure and defined genotype-phenotype correlations in DBA. These findings may help facilitate therapeutic target discovery.</p> <p> </p>
Proerythroblast cells of diamond-blackfan anemia patients with RPS19 and CECR1 mutations have similar transcriptomic signature
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Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
ClinicalTrials.gov study NCT00011505. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Study of the Selective GlyT1 Inhibitor Bitopertin for Steroid-Refractory Diamond-Blackfan Anemia
ClinicalTrials.gov study NCT05828108. IPD Sharing: YES. Countries: 1. Publications: 0.
Pilot Lenalidomide in Adult Diamond-Blackfan Anemia Patients w/ RBC Transfusion-Dependent Anemia
ClinicalTrials.gov study NCT01034592. IPD Sharing: NO. Countries: 1. Publications: 0.
Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag
ClinicalTrials.gov study NCT04269889. IPD Sharing: Not stated. Countries: 1. Publications: 0.
RPS19 binding with and without Diamond-Blackfan anemia variants
GEO Series GSE224998. Homo sapiens. 11 samples. Type: Other.
Transcriptome Analysis Reveals a Comprehensive Regulatory Network Involved in the Zebrafish Model of Diamond-Blackfan Anemia from RPL5 Deficiency [RNA-Seq]
GEO Series GSE58346. Danio rerio. 2 samples. Type: Expression profiling by high throughput sequencing.
The Genetic Landscape of Diamond-Blackfan Anemia
GEO Series GSE119954. Homo sapiens. 14 samples. Type: Expression profiling by high throughput sequencing.
Transcriptome analysis of the Zebrafish model of Diamond-Blackfan Anemia from RPS19 deficiency via p53-dependent and -independent pathways
GEO Series GSE45699. Danio rerio. 3 samples. Type: Expression profiling by high throughput sequencing.
Systematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency (mRNA-Seq)
GEO Series GSE54152. Danio rerio. 2 samples. Type: Expression profiling by high throughput sequencing.
Transcriptome Analysis Reveals a Comprehensive Regulatory Network Involved in the Zebrafish Model of Diamond-Blackfan Anemia from RPL5 Deficiency
GEO Series GSE58347. Danio rerio. 4 samples. Type: Expression profiling by high throughput sequencing; Non-coding RNA profiling by high throughput sequencing.
Transcriptome Analysis Reveals a Comprehensive Regulatory Network Involved in the Zebrafish Model of Diamond-Blackfan Anemia from RPL5 Deficiency [miRNA-Seq]
GEO Series GSE58344. Danio rerio. 2 samples. Type: Non-coding RNA profiling by high throughput sequencing.
Systematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency
GEO Series GSE54270. Danio rerio. 4 samples. Type: Expression profiling by high throughput sequencing; Non-coding RNA profiling by high throughput sequencing.
Single-cell profiling of a clinically applicable lentiviral vector for the treatment of Diamond-Blackfan anemia
GEO Series GSE223250. Homo sapiens. 5 samples. Type: Expression profiling by high throughput sequencing.
single cell transcriptome analysis of regulated transgenic GATA1 expression as a gene therapy for Diamond-Blackfan anemia
GEO Series GSE261450. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
Mechanisms of failing erythropoiesis in Diamond-Blackfan anemia revealed by single cell profiling of human bone marrow progenitors
GEO Series GSE156441. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Systematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency (miRNA-Seq)
GEO Series GSE54259. Danio rerio. 2 samples. Type: Non-coding RNA profiling by high throughput sequencing.
Partial loss of Rpl11 in adult mice recapitulates Diamond-Blackfan anemia (DBA) and promotes lymphomagenesis
GEO Series GSE72537. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
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