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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.
We previously reported on two brothers who carry identical compound heterozygous PRKN mutations yet present with significantly different Parkinson's Disease (PD) clinical phenotypes. Juvenile cases demonstrate that PD is not necessarily an aging-associated disease. Indeed, evidence for a development...
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.
There is need for effective and affordable vaccines against SARS-CoV-2 to tackle the ongoing pandemic. In this study, we describe a protein nanoparticle vaccine against SARS-CoV-2. The vaccine is based on the display of coronavirus spike glycoprotein receptor-binding domain (RBD) on a synthetic viru...
S-EPMC7822889 | biostudies-literature
UnknownA framework for assessing interactions for risk stratification models: the example of ovarian cancer.
Generally, risk stratification models for cancer use effect estimates from risk/protective factor analyses that have not assessed potential interactions between these exposures. We have developed a 4-criterion framework for assessing interactions that includes statistical, qualitative, biological, a...
S-EPMC10637032 | biostudies-literature
UnknownConsensus-based guidance for conducting and reporting multi-analyst studies.
Any large dataset can be analyzed in a number of ways, and it is possible that the use of different analysis strategies will lead to different results and conclusions. One way to assess whether the results obtained depend on the analysis strategy chosen is to employ multiple analysts and leave each ...
S-EPMC8626083 | biostudies-literature
UnknownModeling COVID-19 disease processes by remote elicitation of causal Bayesian networks from medical experts.

Background

COVID-19 is a new multi-organ disease causing considerable worldwide morbidity and mortality. While many recognized pathophysiological mechanisms are involved, their exact causal relationships remain opaque. Better understanding is needed for predicting their progression, targetin...
S-EPMC10050813 | biostudies-literature
UnknownCrucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.
Dopa-responsive dystonia (DRD) and Parkinson's disease (PD) are movement disorders caused by the dysfunction of nigrostriatal dopaminergic neurons. Identifying druggable pathways and biomarkers for guiding therapies is crucial due to the debilitating nature of these disorders. Recent genetic studies...
S-EPMC10197517 | biostudies-literature
UnknownA missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
MLKL is the essential effector of necroptosis, a form of programmed lytic cell death. We have isolated a mouse strain with a single missense mutation, MlklD139V, that alters the two-helix 'brace' that connects the killer four-helix bundle and regulatory pseudokinase domains. This confers ...
S-EPMC7305203 | biostudies-literature
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