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MetabolomicsMetabolic response to point mutations reveals principles of modulation of in vivo enzyme activity and phenotype
The relationship between sequence variation and phenotype is poorly understood. Here, we use metabolomic analysis to elucidate the molecular mechanism underlying the filamentous phenotype of E. coli strains that carry destabilizing mutations in dihydrofolate reductase (DHFR). We find that partial lo...
2021-06-30 | MTBLS2795 | MetaboLights
TranscriptomicsGeneration of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
This SuperSeries is composed of the following subset Series: GSE29772: CNV analysis for Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations GSE29773: Gene Expression Data for Generation of isogenic pluripotent stem cells differing exclusiv...
ORGANISM(S): Homo sapiens 
2011-07-25 | E-GEOD-29774 | biostudies-arrayexpress
TranscriptomicsGene Expression Data for Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
Patient-specific induced pluripotent stem cells (iPSCs) derived from somatic cells provide a unique tool for the study of human disease in disease relevant cells, as well as a promising source for cell replacement therapies for degenerative diseases. However one of the crucial limitations before rea...
ORGANISM(S): Homo sapiens 
2011-07-25 | E-GEOD-29773 | biostudies-arrayexpress
TranscriptomicsCNV analysis for Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
Patient-specific induced pluripotent stem cells (iPSCs) derived from somatic cells provide a unique tool for the study of human disease in disease relevant cells, as well as a promising source for cell replacement therapies for degenerative diseases. However one of the crucial limitations before rea...
ORGANISM(S): Homo sapiens 
2011-07-25 | E-GEOD-29772 | biostudies-arrayexpress
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13111 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13127 | MetaboLights
MetabolomicsMutations-Upstream-of-Metabolomic-Signature Based Functional Analyses Identify Prognostic Biomarkers and Therapeutic Targets in Pancreatic Ductal Adenocarcinoma

Cross-talk among downstream regulatory networks of genome mutations has been the major hypothetical mechanism underlying poor prognosis and low-responsive rates for targeted therapy of pancreatic ductal adenocarcinoma (PDAC). By applying a causal inference-based mutation-upstream-of-the-metabolom...

2025-10-13 | MTBLS13116 | MetaboLights
TranscriptomicsA point mutation in the agr locus caused previously reported phenotypes in Staphylococcus aureus pneumonia
The role of Pantonâ??Valentine leukocidin (PVL) in Staphylococcus aureus pathogenesis is controversial. Here, we show that an unintended point mutation in the agr P2 promoter of S.aureus caused the phenotypes in gene regulation and murine pneumonia attributed to PVL by Labandeiraâ??Rey et al. (Scien...
ORGANISM(S): Staphylococcus aureus 
2010-05-16 | E-GEOD-14394 | biostudies-arrayexpress
MetabolomicsReplication study: The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate
Not available
ORGANISM(S): Homo sapiens 
ST000548 | MetabolomicsWorkbench
TranscriptomicsRelics of repeat-induced point mutation direct heterochromatin formation in Neurospora crassa
Both RNAi-dependent and -independent mechanisms have been implicated in the establishment of heterochromatin domains, which may be stabilized by feedback loops involving chromatin proteins and modifications of histones and DNA. Neurospora crassa sports features of heterochromatin found in higher eu...
ORGANISM(S): Neurospora crassa 
2010-05-15 | E-GEOD-12690 | biostudies-arrayexpress
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