Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Inherited blood cancer predisposition through altered transcription elongation [single-cell RNA-seq]

ABSTRACT: We identified CTR9 mutants as rare heritible contributing factors to several blood cancers. We later identified partial loss of CTR9 is capable of driving key hematopoietic maintenance and self-renewal gene expression through altered transcription elongation.

ORGANISM(S): Homo sapiens

PROVIDER: GSE186590 | GEO | 2024/01/13

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Inherited blood cancer predisposition through altered transcription elongation [Pro-seq]

Project description:We identified CTR9 mutants as rare heritible contributing factors to several blood cancers. We later identified partial loss of CTR9 is capable of driving key hematopoietic maintenance and self-renewal gene expression through altered transcription elongation.

2024-01-13 | GSE186588 | GEO

Inherited blood cancer predisposition through altered transcription elongation [ChIP-seq]

2024-01-13 | GSE249590 | GEO

Inherited blood cancer predisposition through altered transcription elongation

Project description:Inherited blood cancer predisposition through altered transcription elongation

| PRJNA774650 | ENA

Inherited blood cancer predisposition through altered transcription elongation

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

2024-01-13 | GSE186591 | GEO

Inherited blood cancer predisposition through altered transcription elongation [ChIP-seq]

Project description:Inherited blood cancer predisposition through altered transcription elongation [ChIP-seq]

| PRJNA1049789 | ENA

Inherited blood cancer predisposition through altered transcription elongation [Pro-seq]

Project description:Inherited blood cancer predisposition through altered transcription elongation [Pro-seq]

| PRJNA774658 | ENA

Inherited blood cancer predisposition through altered transcription elongation [single-cell RNA-seq]

Project description:Inherited blood cancer predisposition through altered transcription elongation [single-cell RNA-seq]

| PRJNA774657 | ENA

Inherited predisposition to glioma.

Project description:In gliomas, germline gene alterations play a significant role during malignant transformation of progenitor glial cells, at least for families with occurrence of multiple cancers or with specific hereditary cancer syndromes. Scientific evidence during the last few years has revealed several constitutive genetic abnormalities that may influence glioma formation. These germline abnormalities are manifested as either gene polymorphisms or hemizygous mutations of key regulatory genes that are involved either in DNA repair or in apoptosis. Such changes, among others, include hemizygous alterations of the neurofibromatosis 1 (NF1) and p53 genes that are involved in apoptotic pathways, and alterations in multiple DNA repair genes such as mismatch repair (MMR) genes, x-ray cross-complementary genes (XRCC), and O6-methylguanine-DNA methyltransferase (MGMT) genes. Subsequent cellular changes include somatic mutations in cell cycle regulatory genes and genes involved in angiogenesis and invasion, leading eventually to tumor formation in various stages. Future molecular diagnosis may identify new genomic regions that could harbor genes important for glioma predisposition and aid in the early diagnosis of these patients and genetic counseling of their families.

| S-EPMC2940552 | biostudies-literature

Inherited predisposition to myeloproliferative neoplasms.

Project description:Myeloproliferative neoplasms (MPNs) are haematological disorders characterized by an overproduction of mature myeloid cells with a tendency to transform to acute myeloid leukaemia. Clonal proliferation of myeloid progenitor cells is driven by somatically acquired mutations, most notably JAK2 V617F, but there are important features relating to pathogenesis and phenotypic diversity that cannot be explained by acquired mutations alone. In this review we consider what is currently known about the role that inherited factors play in the development and biology of both sporadic and familial forms of MPN. Although most MPN cases appear to be sporadic, familial predisposition has been recognized for many years in a subset of cases and epidemiological studies have indicated the presence of common susceptibility alleles. Currently the JAK2 46/1 haplotype (also referred to as 'GGCC') is the strongest known predisposition factor for sporadic MPNs carrying a JAK2 V617F mutation, explaining a large proportion of the heritability of this disorder. Less is known about what genetic variants predispose to MPNs that lack JAK2 V617F, but there have been recent reports of interesting associations in biologically plausible candidates, and more loci are set to emerge with the application of systematic genome-wide association methodologies. Several highly penetrant predisposition variants that affect erythropoietin signalling, thrombopoietin signalling or oxygen sensing have been characterized in families with nonclonal hereditary erythrocytosis or thrombocytosis, but much less is known about familial predisposition to true clonal MPN. The heterogeneous pattern of inheritance and presumed genetic heterogeneity in these families makes analysis difficult, but whole exome or genome sequencing should provide novel insights into these elusive disorders.

| S-EPMC3734902 | biostudies-literature

Inherited predisposition to myeloid malignancies.

Project description: Not available

| S-EPMC6737419 | biostudies-literature