Danio rerio
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA112035 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:VHL is a tumor suppressor gene involved in the oxygen-sensing pathway whose germline mutations predispose to distinct phenotypes. Heterozygous mutations predispose to von Hippel-Lindau disease characterized by the development of multiple tumors (including hemangioblastomas, renal cell carcinomas and pheochromocytomas)1-3. More recently, a specific VHL-R200W mutation was shown to be responsible for Chuvash Polycythemia in homozygous carriers whereas heterozygous individuals have no clinical manifestation4. We report here a family carrying, on the same allele, VHL mutations characteristics of the two types of disease (a Chuvash polycythemia-R200W mutation and a von Hippel-Lindau disease-R161Q mutation). Genotyping, modeling analysis and functional studies, including transcriptomic profile of the distinct mutants validated for the first time on direct HIF target genes, show a gradual capacity of the VHL mutants to regulate the hypoxia responsive pathway that correlate with the severity of the developed phenotype. Our study provide original results that illuminate genotype/phenotype correlations in von Hippel-Lindau disease.
2013-09-03 | E-MTAB-1269 | biostudies-arrayexpress
Project description:The von Hippel-Lindau (VHL) tumor suppressor functions as a ubiquitin ligase that mediates proteolytic inactivation of hydroxylated a subunits of hypoxia-inducible factor (HIF). Although studies of VHL defective renal carcinoma cells suggest the existence of other VHL tumor suppressor pathways, dysregulation of the HIF transcriptional cascade has extensive effects that make it difficult to distinguish whether, and to what extent, observed abnormalities in these cells represent effects on pathways that are distinct from HIF. Here, we report on a genetic analysis of HIF dependent and independent effects of VHL inactivation by studying gene expression patterns in C. elegans. We show tight conservation of the HIF-1/VHL-1/EGL-9 hydroxylase pathway. However, persisting differential gene expression in hif-1 versus hif-1; vhl-1 double mutant worms clearly distinguished HIF-1 independent effects of VHL-1 inactivation. Genomic clustering, predicted functional similarities, and a common pattern of dysregulation in both vhl-1 worms and a set of mutants (dpy-18, let-268, gon-1, mig-17 and unc-6), with different defects in extracellular matrix formation, suggest that dysregulation of these genes reflects a discrete HIF-1 independent function of VHL-1 that is connected with extracellular matrix function. Set of arrays organized by shared biological context, such as organism, tumors types, processes, etc. Bishop T, Lau KW, Epstein AC, Kim SK, Jiang M, O'rourke D, Pugh CW, Gleadle JM, Taylor MS, Hodgkin J, Ratcliffe PJ, Genetic Analysis of Pathways Regulated by the von Hippel-Lindau Tumor Suppressor in Caenorhabditis elegans., Bishop T, et al. (2004) PLoS Biol 2(10):e289, 2004-10-01, http://biology.plosjournals.org/plosonline/?request=get-document&doi=10.1371/journal.pbio.0020289 Computed
2005-07-20 | E-GEOD-2963 | biostudies-arrayexpress
Project description:GNE987 is a newly developed von Hippel-Lindau tumor suppressor (VHL)-based pan-BET-targeting PROTAC, which can bind to the target proteins (BET proteins, including BRD2, BRD3, and BRD4) and recruit them to the ubiquitin/proteasome system for selective degradation. In the our study, ChIP-Seq analysis was performed to explore the effect of GNE987 on osteosarcoma cells.
2024-08-08 | GSE243673 | GEO
Project description:Drosophila melanogaster Vhl, von Hippel-Lindau, is differentially expressed in 12 experiment(s);
| FBgn0041174 | ExpressionAtlas
Project description:Drosophila melanogaster Vhl, von Hippel-Lindau, is expressed in 3 baseline experiment(s);
| FBgn0041174 | ExpressionAtlas
Project description:Clear cell renal cell carcinoma (ccRCC), the most common type of renal cancer is often associated with inactivation of the tumor suppressor gene von-Hippel Lindau (VHL), leading to stable expression of hypoxia inducible factors, HIF1α and HIF2α. Although HIF1α functions as a tumor suppressor gene, majority of ccRCCs constitutively express HIF1α, stratifying VHL-deficient ccRCCs into groups which express either both HIF1α and HIF2α (H1H2) or HIF2α exclusively (H2). MicroRNA (miRNA) profiling performed in these two ccRCC subtypes to identify novel molecular mechanisms.
2013-09-30 | GSE47582 | GEO
Project description:Rattus norvegicus Vhl, von Hippel-Lindau tumor suppressor [Source:RGD Symbol;Acc:3960], is differentially expressed in 32 experiment(s);
| ENSRNOG00000010258 | ExpressionAtlas
Project description:Rattus norvegicus Vhl, von Hippel-Lindau tumor suppressor [Source:RGD Symbol;Acc:3960], is expressed in 5 baseline experiment(s);
| ENSRNOG00000010258 | ExpressionAtlas
Project description:Sus scrofa VHL, von Hippel-Lindau tumor suppressor [Source:VGNC Symbol;Acc:VGNC:98407], is differentially expressed in 5 experiment(s);
| ENSSSCG00000011567 | ExpressionAtlas
Project description:Sus scrofa VHL, von Hippel-Lindau tumor suppressor [Source:VGNC Symbol;Acc:VGNC:98407], is expressed in 2 baseline experiment(s);
| ENSSSCG00000011567 | ExpressionAtlas