Browse
Submit Data
Databases
API
Help

Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

10 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Detection of copy number variation in patients with Pelizaeus-Merzbacher disease (PMD) - Affymetrix

ABSTRACT: The objective of the study was to investigate the extent of duplicated, triplicated, and quadruplicated regions in PMD patients so that junction analysis could be performed. 4 samples were analyzed. Replicates are not included.

ORGANISM(S): Homo sapiens

SUBMITTER: Grace Hobson

PROVIDER: E-GEOD-64121 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

Detection of copy number variation in patients with Pelizaeus-Merzbacher disease (PMD)

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2015-02-09 | E-GEOD-64122 | biostudies-arrayexpress

Detection of copy number variation in patients with Pelizaeus-Merzbacher disease (PMD) - Affymetrix

Project description:The objective of the study was to investigate the extent of duplicated, triplicated, and quadruplicated regions in PMD patients so that junction analysis could be performed.

2015-02-09 | GSE64121 | GEO

Detection of copy number variation in patients with Pelizaeus-Merzbacher disease (PMD) - NimbleGen

Project description:The objective of the study was to investigate the extent of duplicated, triplicated, and quadruplicated regions in PMD patients so that junction analysis could be performed.

2015-02-09 | GSE63949 | GEO

Detection of copy number variation in patients with Pelizaeus-Merzbacher disease (PMD) - NimbleGen

Project description:The objective of the study was to investigate the extent of duplicated, triplicated, and quadruplicated regions in PMD patients so that junction analysis could be performed. 10 samples were analyzed. Replicates are not included. The arrays were performed as a service by NimbleGen. Reference DNA was normal male NM002 from our lab.

2015-02-09 | E-GEOD-63949 | biostudies-arrayexpress

Single case sample of a Non-Hodgkin lymphoma

Project description:Our study provides evidence that JAK2, PDL1 and PDL2 are recurrently affected by structural and numerical aberrations in lymphoid neoplasms. The study highlights the role of PDL1/PDL2 in lymphoma progression. single case analysis

2013-04-13 | E-GEOD-46005 | biostudies-arrayexpress

MYC-negative BL frequent in posttransplant patients (cytogenetic)

Project description:We performed genomic and transcriptomic analysis of seven cases of molecular Burkitt lymphoma (mBL) developed in immunosuppressed patients who underwent solid organ transplantation. Interestingly, three cases (43%) were MYC-translocation-negative and revealed the 11q-gain/loss aberration recently identified in 3% of mBL developed in immunocompetent hosts.1 Based on array CGH data, minimal gain and loss regions of 11q (MGR/~4Mb and MLR/~13.5Mb, respectively) were defined and integrative genomic and transcriptomic analysis identified 35 differentially expressed genes, when compared with classic BL. All 16 MGR-dysregulated genes were upregulated, including cancer related USP2, CBL and PAFAH1B2. As expected, all 19 MGL-dysregulated genes were downregulated and two of them, TBRG1 and EI24, are potential tumor suppressor genes. Interestingly, the vast majority of dysregulated 11q23-q25 genes are involved in the MYC and TP53 networks. We hypothesize that the 11q-gain/loss aberration represents a “molecular variant” of t(8q24/MYC) and affects the same pathological pathways as the MYC oncogene. Seven cases of PTLD with BL features were selected from a cohort of 174 posttransplant patients diagnosed with PTLD between 1989 and 2012 at the University Hospitals of KU Leuven (Leuven, Belgium). In addition, five classic BL cases were selected as immunocompetent controls (IC-BL). Morphologic, immunophenotypic, clinical and cytogenetic characteristics of the selected cases were reviewed.

2014-12-12 | E-GEOD-64083 | biostudies-arrayexpress

Novel PAX5 fusion genes in childhood B-Cell Precursors Acute Lymphoblastic Leukemia

Project description:PAX5, a transcription factor essential for B-cell development, has been found as a frequent target of abnormalities in B-Cell Precursor Acute Lymphoblastic Leukemia (BCP-ALL) cases, showing point mutations, deletions, as well as translocations with several partner genes. We identified four novel PAX5 fusion partner genes by performing a screening on BCP-ALL cases with 9p rearrangements. Copy Number Variation analysis of translocated samples showed that few significant cooperative genetic lesions are present in addition to the translocation event, suggesting that it might have a primary role in leukemogenesis.

2015-03-02 | E-MTAB-2416 | biostudies-arrayexpress

Expression data from neurospheres derived from the neocortex, striatum and subventricular zones of the adult mouse brain

Project description:Differential gene expression profiles of neurospheres derived from different regions of the adult brain. In this dataset, we include data on triplicated biological samples from each of the following brain regions: neocortex, striatum, and subventricular zone. We also include duplicated data on neurospheres derived from the dorsal and ventralforebrain neural tubes and one spinal cord of E14.5 mouse embryos for comparison. Fourteen samples were analyzed in total. To compare the expression profiles across the samples, Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform (total 41,170 probes) was used, and the data were analyzed using Silicon Genetics GeneSpring Software GX7.3.1. The data was normalized to median settings across the entire probe set and samples, and transcripts that are expressed across triplicated samples at levels two-fold or higher than the rest of the samples were considered as significantly enriched in particular biological samples. Comparisons between adult and embryonic samples also identified genes enriched in adult brain-derived samples.

2013-10-01 | E-GEOD-49194 | biostudies-arrayexpress

MYC-negative BL frequent in posttransplant patients

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2014-12-12 | E-GEOD-64086 | biostudies-arrayexpress

Expression data from neurospheres derived from the neocortex, striatum and subventricular zones of the adult mouse brain

2013-10-01 | GSE49194 | GEO