Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype [gene expression/RNA-seq]

ABSTRACT: DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype [gene expression/RNA-seq]

PROVIDER: PRJNA598601 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype

Project description:DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype

| PRJNA598592 | ENA

DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype [gene expression/RNA-seq]

Project description:People with ataxia-telangiectasia (A-T) display clinical variability, yet molecular profiles associated with distinct A-T phenotypes remain undefined. We report transcriptional and DNA methylation signatures that inform the regulatory networks underlying A-T phenotypes.

2020-05-04 | GSE142842 | GEO

DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype [DNA methylation/RRBS]

2020-05-04 | GSE142843 | GEO

DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype [DNA methylation/RRBS]

Project description:DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype [DNA methylation/RRBS]

| PRJNA598602 | ENA

Gene expressioin signatures at basal level in human lymphoblastoid cell lines with different ataxia telangiectasia-mutated (ATM) genotypes

Project description:Transcriptional profiling of human lymphoblastoid cell lines with different ATM genotypes at basal level was compared to extract gene expression signatures that can identify ataxia telangiectasia (AT) carries from non AT carries and AT patients.

2013-04-09 | GSE45848 | GEO

Gene expressioin signatures at basal level in human lymphoblastoid cell lines with different ataxia telangiectasia-mutated (ATM) genotypes

2013-04-09 | E-GEOD-45848 | biostudies-arrayexpress

Ataxia-telangiectasia cerebellar cortex expression

Project description:Cerebellar cortex expression in ataxia-telangiectasia patients and normal controls. The neurodegenerative disease known as ataxia-telangiectasia (A-T) is caused by the absence of the ATM (A-T mutated) protein. A long-standing mystery surrounding A-T is why cerebellar Purkinje cells (PCs) appear uniquely vulnerable to ATM-deficiency. Here, we present that 5-hydroxymethylcytosine (5hmC), a newly recognized epigenetic marker found at high levels in neurons, is substantially reduced in human A-T and Atm-/- mouse cerebellar PCs. TET1, an enzyme that converts 5mC to 5hmC, responds to DNA damage. Manipulation of TET1 activity directly affects neuronal cell cycle reentry and cell death after the induction of DNA damage. Quantitative, genome-wide analysis of 5hmC of samples from human cerebellum showed that in ATM-deficiency there is a remarkable genome-wide reduction of 5hmC enrichment at both proximal and distal regulatory elements. These results reveal a role of TET1-mediated 5hmC in DNA damage response, and provide insights into the basis of a PC-specific DNA demethylation alteration in ATM-deficiency. Human frozen tissue was obtained from the NICHD Brain and Tissue Bank of Developmental Disorders at the University of Maryland, Baltimore, MD. RNA was prepared and run on an Illumina Human HT-12 v4 microarray. 3 ataxia-telangiectasia (A-T) cases and 4 normal controls.

2015-10-30 | E-GEOD-61019 | biostudies-arrayexpress

Gene expressioin signatures in human lymphoblastoid cell lines with different ataxia telangiectasia-mutated (ATM) genotypes post sham- or IR-treatment

Project description:Transcriptional profiling of human lymphoblastoid cell lines with different ATM genotypes 6h post sham- or 1.5 Gy IR-treatmentl was compared to extract IR-related gene expression signatures that can identify ataxia telangiectasia (AT) carries from non AT carries and AT patients.

2013-04-09 | GSE45849 | GEO

MicroRNA dysregulation in Ataxia Telangiectasia

Project description:MicroRNA dysregulation in Ataxia Telangiectasia

| PRJNA1107187 | ENA

Gene expressioin signatures in human lymphoblastoid cell lines with different ataxia telangiectasia-mutated (ATM) genotypes post sham- or IR-treatment

2013-04-09 | E-GEOD-45849 | biostudies-arrayexpress