Dc325143-6b83-4716-b4d8-2d9523799715 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001010009 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:In this study, we observed the effects of constitutional heterozygous TET2 loss on blood DNA methylation, chromatin activity and gene expression in carriers of truncating TET2 germline mutations. To provide additional context to findings in TET2 mutation carriers, we analysed DNA methylation in four DNMT3A germline mutation carriers and their age-matched controls.
| EGAS00001003454 | EGA
Project description:This SuperSeries is composed of the following subset Series: GSE24697: Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications (GEX) GSE24698: Breast tumors from CHEK2 1100delC mutation carriers: genomic landscape and clinical implications (CGH) Refer to individual Series
2011-05-10 | E-GEOD-24707 | biostudies-arrayexpress
Project description:We recently identified a family with lymphoma predisposition where a heterozygous truncating germline mutation in TET2 segregated with nodular lymphocyte predominant Hodgkin lymphoma. In a clinical trial of one year, we investigated the effects of oral 1 g/day vitamin C supplementation on DNA methylation by analyzing genome-wide DNA methylation and gene expression patterns from the family members.
| EGAS00001006916 | EGA
Project description:Raw reads from ChIP- [Anti-Histone H3 (acetyl K27) (Abcam, ab4729)] and input sequencing of EBV transformed lymphoblastoid cells from three carriers of TET2 mutation (Ly9, Ly11 and Ly14) and two wild-type (Ly8 and Ly10) family members using Illumina HiSeq Rapid paired-end 60 bp sequencing.
| EGAD00001004781 | EGA
Project description:TET2 is a know tumorsuppressor gene involved in the demethylation of DNA. TET2 catalyses the conversion of 5-methyl cytosine (5-mC) to 5-hydroximethyl cytosine (5-hmC), an important step in the removal of methylation from the DNA. In T-All mutations in TET2 are rare, however we have found that it is often silenced by DNA Methylation. 5-Azacytidine (5-AZA) is a an effective demethylating agent used as a cancer treatment and has been showed to be able to reactivate methylated genes. Similarly, Vitamin C is an important co-factor for TET2 and has been shown to have synergistic effects with 5-Azacytidine. By treating the TET2 methylated T-ALL cell lines Loucy and DND41 and comparing to TET2 expressing T-ALL cells lines such as SUP-T1 and Jurkat we aimed to explore if 5-AZA could reactivate TET2 in T-ALL, what effects this would have on tumorgenicity and whether Vitamin C had any synergy with these effects in T-ALL. As part of this effort we treated the cell lines SUP-T1, Jurkat, Loucy and DND41 with 5-AZA and Vitamin C and performed Total RNA-seq to explore the effects of 5-AZA and Vitamin C on the expression of genes and non-coding elements such as retrotransponsons.
2021-08-04 | E-MTAB-10512 | biostudies-arrayexpress
Project description:Gene expression was studied from the blood derived RNAs of the Finnish family members as well as from 10 controls using GeneChip Human Genome U133 Plus2 (Affymetrix). Eight out of 10 family members in the expression analysis are heterozygous for the NPAT c.2437-2438delAG, three of which are NLPHL cases. NPAT expression was studied in the NLPHL patients and the carriers of the deletion c.2437-2438delAG (8) compared to the controls and the non-mutation carriers (12). Note: Case 2 not submitted. Publication pending.
2011-04-14 | E-GEOD-28536 | biostudies-arrayexpress
Project description:This SuperSeries is composed of the following subset Series: GSE32124: Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers [expression data] GSE32258: Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers [SNP data] Refer to individual Series
2012-02-01 | E-GEOD-32259 | biostudies-arrayexpress
Project description:Comparison of the expression profiles of normal cells from 10 BRCA1 and 10 BRCA2 mutation carriers to 10 non-carrier control samples after radiation induced DNA damage Keywords: dose response
2006-02-01 | GSE3382 | GEO
Project description:<p>Hematopoietic stem cell (HSC) mutations can result in clonal hematopoiesis (CH) with heterogeneous clinical outcomes. Here, we investigated how the cell state preceding <em>Tet2</em> mutation impacts the pre-malignant phenotype. Using an inducible system for clonal analysis of myeloid progenitors, we found that the epigenetic features of clones at similar differentiation status were highly heterogeneous and functionally responded differently to <em>Tet2</em> mutation. Cell differentiation stage also influenced <em>Tet2</em> mutation response indicating that the cell of origin's epigenome modulates clone-specific behaviors in CH. Molecular features associated with higher risk outcomes include <em>Sox4</em> that sensitized cells to <em>Tet2</em> inactivation, inducing dedifferentiation, altered metabolism and increasing the <em>in vivo</em> clonal output of mutant cells, as confirmed in primary GMP and HSC models. Our findings validate the hypothesis that epigenetic features can predispose specific clones for dominance, explaining why identical genetic mutations can result in different phenotypes.</p>
1970-01-01 | MTBLS9914 | MetaboLights
Project description:Background: While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is not tractable by traditional genetic approaches. Further, examination of gene expression is complicated by confounding effects attributable to drugs and the disease process itself. Methods: To resolve these problems, B-cells were isolated, EBV-immortalized, and cultured from familial PAH patients with BMPR2 mutations, mutation positive but disease-free family members, and family members without mutation. This allows examination of differences in gene expression without drug or disease-related effects. These differences were assayed by Affymetrix array, with follow-up by quantitative RT-PCR and additional statistical analyses. Results: By gene array, we found consistent alterations in multiple pathways with known relationship to PAH, including actin organization, immune function, calcium balance, growth, and apoptosis. Selected genes were verified by quantitative RT-PCR using a larger sample set. Analysis of overrepresented gene ontology groups suggests that it is pathway-specific, not gene-specific changes that carry increased risk of disease. Conclusions: B-cell lines are a valuable and accessible tool for assaying alterations in gene expression free from drug and disease effects. Predisposition to disease within BMPR2 mutation carriers was linked to several pathways, including proliferation, GTP signaling, and stress response. Experiment Overall Design: Immortalized B-cells from BMPR2 mutation carriers with and without disease are compared to search for modifier genes
2008-10-25 | E-GEOD-10767 | biostudies-arrayexpress