Knowledge management and discovery for genotype-phenotype data.
, 2009 Die Untersuchung des Phänotyps bringt z.B. bei genetischen Krankheiten ein Verständnis der zugrunde liegenden Mechanismen mit sich. Aufgrund dessen wurden neue Technologien wie RNA-Interferenz (RNAi) entwickelt, die Genfunktionen entschlüsseln und mehr phänotypische Daten erzeugen.
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BCG vaccination potentiates oxidative phosphorylation in neonatal myeloid‐derived suppressor cells
FEBS Open Bio, EarlyView.BCG vaccination enhances oxidative phosphorylation in neonatal MDSCs, impairing their immunosuppressive function. It upregulates electron transport chain genes and mitochondrial activity, increasing ATP and oxygen consumption. Pharmacological OXPHOS inhibition partially restores suppressive capacity, confirming causality.
Yingying Chen, Hui Li
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Extensive phenotype data and machine learning in prediction of mortality in acute coronary syndrome - the MADDEC study. [PDF]
Ann Med, 2019 Hernesniemi JA +9 more
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The C‐terminal domain of yeast Arginyltransferase1 is essential for its catalytic activity
FEBS Open Bio, EarlyView.Arginyltransferase 1 (Ate1), a eukaryotic enzyme, catalyses arginylation, transferring arginine from tRNA‐Arg to the amino terminus of the target protein. Overexpression of Ate1 in yeast is lethal and is dependent on arginylation. This study elucidates how mutations in the cofactor‐binding and active site of Ate1 and truncation of its structural ...
Vikas Kumar Yadav +4 more
wiley +1 more source
FEBS Open Bio, EarlyView.Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata +3 more
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Incentivising use of structured language in biological descriptions: Author-driven phenotype data and ontology production. [PDF]
Biodivers Data J, 2018 Cui H +7 more
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MARK4 enhances stress granule formation under oxidative stress and increases tau accumulation
FEBS Open Bio, EarlyView.MARK4 (red dots) localizes to stress granules (orange dots) and promotes their formation under oxidative stress by modulating TIA1 (blue dots). MARK4 and TIA1 synergistically increase tau (purple) accumulation, and the reduction of the TIA1 ortholog suppresses neurodegeneration in a fly model.
Sho Nakajima +8 more
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MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. [PDF]
Hum Mutat, 2018 Townend GS +9 more
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IGF2 knockout reduces but does not abolish osteosarcoma growth in vitro and in vivo
FEBS Open Bio, EarlyView.To test whether endogenous IGF2 promotes osteosarcoma growth, IGF2 was knocked out in Saos2 cells via CRISPR‐Cas9. KO cells showed reduced proliferation in vitro, and knockout xenografts in mice reached only ~25% of wild‐type tumor volume. Insulin‐like growth factor 2 (IGF2) is implicated in osteosarcoma, but direct functional evidence of its role is ...
Shun Yao, Marco Archetti
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