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Danio rerio

ABSTRACT: Assessment of hematopoietic failure due to RPL11 deficiency in a zebrafish model of Diamond–Blackfan anemia by deep sequencing

PROVIDER: PRJNA222400 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR1005530_1.fastq.gz	Fastqsanger.gz
	SRR1005530_2.fastq.gz	Fastqsanger.gz
	SRR1005529_1.fastq.gz	Fastqsanger.gz
	SRR1005529_2.fastq.gz	Fastqsanger.gz

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Danio rerio

Project description:Systematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency (mRNA-Seq)

| PRJNA235310 | ENA

Danio rerio

Project description:Systematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency (miRNA-Seq)

| PRJNA236050 | ENA

Single cell transcriptomic analysis of bone marrow hematopoietic stem and progenitors cells isolated from 10-week-old wild-type control, Rps19R67∆/R67∆, Rps19R67∆/R67∆ Trp53−/− and Trp53−/− mutant mice.

Project description:This single cell transcriptome sequencing experiment is part of the study \\"Preclinical animal model of Diamond-Blackfan anemia with single amino acid mutation of ribosomal protein Rps19\\". A mouse model with this mutation develops features characteristic of human Diamond-Blackfan anemia, a rare bone marrow failure syndrome, including hematologic dysfunctions, early onset growth delay, intrinsic anemia, severe craniofacial, skeletal, urogenital, cardiovascular, and cerebral abnormalities leading to premature lethality during the adolescence of the mouse. This DBA mouse model exhibits cell intrinsic activation of the Trp53 signaling pathway in hematopoietic stem cells (HSCs) leading to reduced erythroid lineage development that may be rescued after inactivation of the tumor suppressor Trp53. The study uncovers 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 and the central role of induced Trp53 expression and upregulation of its non-canonical targets in the mediation of neural crest lineage deficiency-mediated development of craniofacial malformations in this model.

2023-05-01 | E-MTAB-12446 | biostudies-arrayexpress

Danio rerio

Project description:Transcriptome analysis of the Zebrafish model of Diamond-Blackfan Anemia from RPS19 deficiency via p53-dependent and -independent pathways

| PRJNA195897 | ENA

Transcriptome profiling of c-Kit+ hematopoietic stem and progenitor cells enriched from 10-week-old wild-type and Rps19R67∆/R67∆ mutant mice.

Project description:This RNA sequencing experiment is part of the study "Preclinical animal model of Diamond-Blackfan anemia with single amino acid mutation of ribosomal protein Rps19". A mouse model with arginine 67 mutation of ribosomal protein Rps19 develops features characteristic of human Diamond-Blackfan anemia, a rare bone marrow failure syndrome. These include hematologic dysfunctions, early onset growth delay, intrinsic anemia, severe craniofacial, skeletal, urogenital, cardiovascular, and cerebral abnormalities leading to premature lethality during the adolescence of the mouse. This model exhibits cell intrinsic activation of the Trp53 signaling pathway in hematopoietic stem cells (HSCs) leading to reduced erythroid lineage development that may be rescued after inactivation of the tumor suppressor Trp53. Using preliminary RNA sequencing study we identify a set of non-canonical components of the p53 signaling pathway which with high likelihood mediate the wide range of pathologies associated with DBA, the experiment if followed up by single cell transcriptome analysis of bone marrow hematopoietic progenitors and RNA sequencing of E14.5 fetal liver from wild-type control and Rps19R67∆/R67∆, Rps19R67∆/R67∆ Trp53−/− and Trp53−/− mutant embryos.

2023-05-31 | E-MTAB-12447 | biostudies-arrayexpress

Danio rerio

Project description:Transcriptome Analysis Reveals a Comprehensive Regulatory Network Involved in the Zebrafish Model of Diamond-Blackfan Anemia from RPL5 Deficiency [RNA-Seq]

| PRJNA252046 | ENA

Danio rerio

Project description:Transcriptome Analysis Reveals a Comprehensive Regulatory Network Involved in the Zebrafish Model of Diamond-Blackfan Anemia from RPL5 Deficiency [miRNA-Seq]

| PRJNA252044 | ENA

RNAseq of E14.5 fetal liver isolated from wild-type control, Rps19R67∆/R67∆, Rps19R67∆/R67∆ Trp53−/− and Trp53−/− mutant embryos.

Project description:This RNA sequencing experiment is part of the study \\"Preclinical animal model of Diamond-Blackfan anemia with single amino acid mutation of ribosomal protein Rps19\\". A mouse model with conserved arginine 67 deletion of ribosomal protein Rps19 mutation develops features characteristic of human Diamond-Blackfan anemia, a rare bone marrow failure syndrome, including hematologic dysfunctions, early onset growth delay, intrinsic anemia, severe craniofacial, skeletal, urogenital, cardiovascular, and cerebral abnormalities leading to premature lethality during the adolescence of the mouse. This DBA mouse model exhibits cell intrinsic activation of the Trp53 signaling pathway in hematopoietic stem cells (HSCs) leading to reduced erythroid lineage development that may be rescued after inactivation of the tumor suppressor Trp53. The E14.5 fetal liver transcriptome analysis study confirms the involvement of non-canonical components of the p53 signaling pathway in the etiopathogenesis of DBA, manifested already during fetal development, consistent with the early onset of DBA-like phenotypes in mouse embryos as well as development of the disease in neonatal human patients. These results confirm our previous findings in adult hematopoietic progenitors as well as indicate that the development of DBA occurs well into the fetal development in both humans and our mouse model.

2023-05-31 | E-MTAB-12448 | biostudies-arrayexpress

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Project description:Transcriptome profile of highly purified multipotential (P), erythroid (E), and myeloid (M) bone marrow progenitors from three RPS19 mutated Diamond-Blackfan anemia and six control human subjects. Two group comparison of sex and age matched subjects. Bone marrow progenitors, gene expression profiling, Diamond-Blackfan anemia, RPS19

2012-10-16 | E-GEOD-41599 | biostudies-arrayexpress

Gene expression analysis from erythroid progenitors of patients with Diamond-Blackfan anemia

Project description:Gene expression analysis from erythroid progenitors (CD34+/CD71(high)/CD45- mononuclear cells from the bone marrow) of patients with Diamond-Blackfan anemia (due to RPS19 mutations) and control individuals.

2014-02-28 | GSE41817 | GEO

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