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Homo sapiens

ABSTRACT: Exome Sequencing of the Family with Diamond-Blackfan Anemia

PROVIDER: PRJNA422964 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR16362686_1.fastq.gz	Fastqsanger.gz
	SRR16362686_2.fastq.gz	Fastqsanger.gz
	SRR16362687_1.fastq.gz	Fastqsanger.gz
	SRR16362687_2.fastq.gz	Fastqsanger.gz
	SRR16362688_1.fastq.gz	Fastqsanger.gz

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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

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Project description:comparative expression analysis of polysomal mRNA from Diamond-Blackfan anemia patients and healthy individuals

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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.

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Project description:Drug Discovery For Diamond Blackfan Anemia Using Reprogrammed Hematopoietic Progenitors

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Project description:Whole genome profiling of fibroblasts from Diamond-Blackfan Anemia patients

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

2012-10-16 | GSE41599 | GEO

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.

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single cell transcriptome analysis of regulated transgenic GATA1 expression as a gene therapy for Diamond-Blackfan anemia

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