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MetabolomicsSPE-IMS-MS: An automated platform for sub-sixty second surveillance of endogenous metabolites and xenobiotics in biofluids
Characterization of endogenous metabolites and xenobiotics is essential to deconvoluting the genetic and environmental causes of disease. However, surveillance of chemical exposure and disease-related changes in large cohorts requires an analytical platform that offers rapid measurement, high sensit...
2017-02-14 | MTBLS427 | MetaboLights
UnknownGenomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Not available
S-EPMC9243035 | biostudies-literature
TranscriptomicsWhole genome expression analysis of a skin biopsy from an individual with multi-organ epithelial inflammation associated with an inherited loss-of-function mutation in EGFR
Whole-genome expression microarray analysis was performed using RNA extracted from skin biopsies sampled from the affected child as well as 4 pooled, healthy controls. The hypothesis was that the downstream effects of the inherited EGFR loss-of-function mutation in the infant would be evident by enr...
ORGANISM(S): Homo sapiens 
2015-05-26 | E-GEOD-54162 | biostudies-arrayexpress
MetabolomicsGlobal untargeted serum metabolomic analyses nominate metabolic pathways responsive to loss of expression of the orphan metallo beta-lactamase, MBLAC1
The C. elegans gene swip-10 encodes an orphan metallo beta-lactamase that genetic studies indicate is vital for limiting neuronal excitability and viability. Sequence analysis indicates that the mammalian gene Mblac1 is the likely ortholog of swip-10, with greatest sequence identity localized...
2019-03-12 | MTBLS650 | MetaboLights
UnknownA COVID-19 vaccine candidate using SpyCatcher multimerization of the SARS-CoV-2 spike protein receptor-binding domain induces potent neutralising antibody responses.
Not available
S-EPMC7822889 | biostudies-literature
UnknownA framework for assessing interactions for risk stratification models: the example of ovarian cancer.
Not available
S-EPMC10637032 | biostudies-literature
UnknownConsensus-based guidance for conducting and reporting multi-analyst studies.
Not available
S-EPMC8626083 | biostudies-literature
UnknownModeling COVID-19 disease processes by remote elicitation of causal Bayesian networks from medical experts.
Not available
S-EPMC10050813 | biostudies-literature
UnknownCrucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Not available
S-EPMC10197517 | biostudies-literature
UnknownA missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Not available
S-EPMC7305203 | biostudies-literature
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