Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

ABSTRACT: Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

PROVIDER: PRJNA737803 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR14819115_1.fastq.gz	Fastqsanger.gz
	SRR14819115_2.fastq.gz	Fastqsanger.gz
	SRR14819116_1.fastq.gz	Fastqsanger.gz
	SRR14819116_2.fastq.gz	Fastqsanger.gz
	SRR14819117_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 57

Similar Datasets

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-ChIP-Seq

Project description:Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-ChIP-Seq

| PRJNA738285 | ENA

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-RNA-Seq

Project description:Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-RNA-Seq

| PRJNA738284 | ENA

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-ChIP-Seq

Project description:Somatic mutations of RUNX1, which encodes the myeloid and lymphoid transcriptional factor RUNX1, are common in both B- and T- acute lymphoid leukemia (ALL) and are associated with poor prognosis of T-ALL. However, there has been no comprehensive investigation of the pattern or prevalence of RUNX1 germline mutation in both B- and T-ALL. Here we report germline RUNX1 variants in 1.23% of B-ALL and 2.11% of T-ALL, identifying 31 unique variants in 62 B-ALL and 18 unique variants in 26 T-ALL children. The majority of frameshift and nonsense variants affected RUNX1 function in transcriptional regulation, hematopoiesis, and cellular proliferation. We identified JAK3 as the most frequent somatic mutation in T-ALL with RUNX1 variants. These results not only identify RUNX1 as a leukemia predisposition gene but also further underline the importance of germline genetic variants to the development of ALL

2021-12-31 | GSE178238 | GEO

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic-RNA-Seq

2021-12-31 | GSE178237 | GEO

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Project description:Genetic alterations in the RUNX1 gene are associated with benign and malignant blood disorders, particularly of megakaryocyte and myeloid lineages. The role of RUNX1 in acute lymphoblastic leukemia (ALL) is less clear, particularly how germline genetic variation influences the predisposition to this type of leukemia. Sequencing 4,836 children with B-ALL and 1,354 cases of T-ALL, we identified 31 and 18 germline RUNX1 variants, respectively. RUNX1 variants in B-ALL consistently showed minimal damaging effects. By contrast, 6 T-ALL-related variants result in drastic loss of RUNX1 activity as a transcription activator in vitro. Ectopic expression of dominant-negative RUNX1 variants in human CD34+ cells repressed differentiation into erythroid, megakaryocytes, and T cells, while promoting myeloid cell development. Chromatin immunoprecipitation sequencing of T-ALL models showed distinctive patterns of RUNX1 binding by variant proteins. Further whole genome sequencing identified JAK3 mutation as the most frequent somatic genomic abnormality in T-ALL with germline RUNX1 variants. Co-introduction of RUNX1 variant and JAK3 mutation in hematopoietic stem and progenitor cells in mice gave rise to T-ALL with early T-cell precursor phenotype. Taken together, these results indicated that RUNX1 is an important predisposition gene for T-ALL and pointed to novel biology of RUNX1-mediated leukemogenesis in the lymphoid lineages.

| S-EPMC8409579 | biostudies-literature

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

| EGAS00001005403 | EGA

Germline RUNX1 Variation and Predisposition to Childhood Acute Lymphoblastic

Project description:This SuperSeries is composed of the SubSeries listed below.

2021-12-31 | GSE178239 | GEO

Proteogenomics of High hyperdiploid childhood acute lymphoblastic leukemia

Project description:Proteogenomic analysis and genomic profiling, RNA-sequencing, and mass spectrometry-based analysis of High hyperdiploid childhood acute lymphoblastic leukemia.

2019-02-25 | PXD010175 | Pride

Aberrant RNA expression and splicing in childhood ETV6/RUNX1 acute lymphoblastic leukemia

Project description:ETV6/RUNX1 E/R -positive acute lymphoblastic leukemia (ALL), as one of the most common childhood malignancies, its pathogenesis and mechanism remain to be elucidated comprehensively. Global gene expression profiling can provide insight into the underlying pathophysiology of disease processes. In this study we sought to gain further insight into the molecular mechanisms underlying E/R-positive ALL by examining transcriptional profiles of E/R-positive ALL patients. We investigated the Bone marrow transcriptional profiles of E/R-positive ALL patients. Bioinformatic and statistical methods, including differential expression analysis, lncRNA analysis, alternative splicing analysis and metabolic network analysis, were used to characterize the underlying molecular mechanisms for E/R-positive ALL.

2021-01-20 | GSE109807 | GEO

Aberrant RNA expression and splicing in childhood ETV6/RUNX1 acute lymphoblastic leukemia

Project description:Aberrant RNA expression and splicing in childhood ETV6/RUNX1 acute lymphoblastic leukemia

| PRJNA432067 | ENA