Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA121923 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology. Four replicates were obtained from one lymphoblast cell line derived from a patient with Golabi-Ito-Hall syndrome, labeled as GIH. Four replicates were obtained from one lymphoblast cell line derived from a matched healthy person and is indicated as control.
2011-01-01 | E-GEOD-19724 | biostudies-arrayexpress
Project description:A point mutation in the WW domain of PQBP1 that mediates its interaction with SIPP1 causes the Golabi-Ito-Hall (GIH) syndrome, which is associated with severe mental retardation and physical deformations. In this project we compared lymphoblast cell lines from a healthy person and a patient with the GIH syndrome and we found that the interaction between SIPP1 and the PQBP1-Y65C mutant is strongly impaired and is associated with significant differences in the expression of numerous genes. Furthermore, our data show that the Y65C mutation in PQBP1 results in a deficiency of (alternative) splicing and in major effects on several epigenetic markers. Thus, we suggest that GIH syndrome is a splicing disease€™ and that both PQBP1 and SIPP1 play an important role in its etiology.
2011-01-01 | GSE19724 | GEO
Project description:Investigation of ATM-dependent and dose-dependent, or -independent, responses were examined in human lymphoblast cells 6 hr following exposure to either 1 or 5 Gy ionizing radiation. Human lymphoblast cells from "apparently healthy" individuals and individuals with Ataxia telangiectasia were exposed to 1 Gy or 5 Gy ionizing radiation. Gene expression responses 6 hr following IR were examined. Untreated samples were hybridized together with their matched treated samples.
2010-07-01 | E-GEOD-3174 | biostudies-arrayexpress
Project description:Lymphoblast cells from a patient with Freidriech's Ataxia were incubated with pyrrole-imidazole polyamides targeted to the GAA triplet repeat in the intron 1. The polyamides were shown in cell culture to increase levels of endogenous frataxin mRNA. A normal sibling derived lymphoblast cell line was used as a control. Keywords: human lymphoblast cells
2006-06-14 | GSE5040 | GEO
Project description:Subcutaneous adipose tissue gene expression in PCOS, compared with age and BMI-matched healthy controls
| PRJNA185422 | ENA
Project description:Transcriptional profiling has been used to identify gene expression patterns indicative of general medical illnesses such as atherosclerosis. However, whether these methods can identify common psychiatric disorders has not been established. To answer this question with respect to nicotine use, we used genome wide expression profiling lymphoblast cell lines from six actively smoking Iowa Adoption Studies subjects and nine ?clean? control subjects, followed by real-time PCR (RT-PCR) of gene expression patterns in lymphoblast derived RNA from 94 subjects in the Iowa Adoption Studies. As compared to those from controls without a history of smoking (n=9), the expression levels of 579 of 29,098 genes were significantly up-regulated and expression levels of 584 of 29,098 genes were significantly down-regulated in lymphoblast lines from currently smoking subjects (n=6). RT-PCR confirmation of four select RNA levels confirmed the validity of the overall profile and revealed highly significant relationships between the expression of some of these transcripts and 1) major depression, 2) antisocial personality, 3) nicotine dependence and 4) cannabis dependence. We conclude that the use of expression profiling may contribute significant insights into the biology of complex behavioral disorders. Keywords: substance use, major depression, SLC6A4, AUTS2, CAPN2, ELN, lymphoblast Keywords: disease state analysis
2006-11-14 | GSE6264 | GEO
Project description:Genome-wide expression kinetics of children with T1D-associated autoantibodies compared to healthy matched controls I
| PRJNA155099 | ENA
Project description:Genome-wide expression kinetics of children with T1D-associated autoantibodies compared to healthy matched controls II
| PRJNA155101 | ENA
Project description:This study aimed to generate a new panel of comprehensively, genomically characterized high-grade serous ovarian carcinoma (HGSOC) cell line and xenograft models. Multidimensional genomic data were generated and compared between cell lines/xenografts and the tumours they were derived from, indicating the cell lines/xenografts are highly similar to their patient-matched tumours. Cell line/xenograft data were also compared to TCGA ovarian tumours to show the cell lines are good models of clinical HGSOC. Affymetrix SNP 6 arrays were performed according to the manufacturer's instructions on genomic DNA extracted from i) tumour cells purified from ovarian tumour ascites, ii) established cell lines, iii) patient derived xenografts, and iv) lymphoblast lines. Evaluation of the similarity in copy number/methylation/gene expression/mutational profiles of cell lines/tumours/xenografts was performed.
2016-08-11 | E-GEOD-71522 | biostudies-arrayexpress
Project description:Transcription profiling by high throughput sequencing of polyA+ RNAs from eight different human tissues to test a set of de novo transcript models (GENCODE PCR-Seq Batch IX) As part of the ENCODE consortium the GENCODE project is producing a reference gene set through manual and automated gene prediction. Selected transcript models are verified experimentally by RT-PCR amplification followed by sequencing. In batch IX, a set of de novo transcript models was tested aiming to incorporate new long non-coding RNA models into the GENCODE annotation. The original set was built with Cufflinks from ENCODE RNAseq data derived from 15 cell lines by the Gingeras (CSHL) and Wold (CalTech) labs. A subset of multiexonic transcripts not overlapping the GENCODE v10 annotation was selected for this experiment. ArrayExpress Release Date: 2012-10-01 Person Roles: submitter Person Last Name: Gonzalez Person First Name: Jose Person Mid Initials: M Person Email: jmg@sanger.ac.uk Person Phone: -498006 Person Address: Wellcome Trust Genome Campus, Hinxton, UK Person Affiliation: Wellcome Trust Sanger Institute Person Roles: investigator Person Last Name: Hubbard Person First Name: Tim Person Mid Initials: Person Email: th@sanger.ac.uk Person Phone: -498055 Person Address: Wellcome Trust Genome Campus, Hinxton, UK Person Affiliation: Wellcome Trust Sanger Institute Person Roles: investigator Person Last Name: Reymond Person First Name: Alexandre Person Mid Initials: Person Email: Alexandre.Reymond@unil.ch Person Phone: Person Address: Lausanne, Switzerland Person Affiliation: University of Lausanne Person Roles: investigator Person Last Name: Guigo Person First Name: Roderic Person Mid Initials: Person Email: roderic.guigo@crg.cat Person Phone: Person Address: Barcelona, Spain Person Affiliation: Centre for Genomic Regulation (CRG) For data usage terms and conditions, please refer to http://www.genome.gov/27528022 and http://www.genome.gov/Pages/Research/ENCODE/ENCODEDataReleasePolicyFinal2008.pdf
2013-05-11 | GSE46637 | GEO