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Inborn errors of T cell development present a pediatric emergency in which timely curative therapy is informed by molecular diagnosis. In 9 affected patients across 3 consanguineous kindreds, we detected homozygosity for a single deleterious missense variant in the gene NudC domain containing 3 (NUD...
ORGANISM(S): Homo sapiens (Human) 
2024-09-27 | PXD035840 | Pride
Brown and beige adipose tissue are emerging as distinct endocrine organs. These tissues are functionally associated with skeletal muscle, adipose tissue metabolism and systemic energy expenditure, suggesting an interorgan signaling network. Using metabolomics, we identify 3-methyl-2-oxovaleric acid,...
2022-03-03 | MTBLS2436 | MetaboLights

BACKGROUND: Large-scale, placebo-controlled trials established that nonsteroidal anti-inflammatory drugs confer a cardiovascular hazard: this has been attributed to depression of cardioprotective products of cyclooxygenase (COX)-2, especially prostacyclin. An alternative mechanis...

2019-08-22 | MTBLS680 | MetaboLights
Soybean (Glycine max, cv Williams82) leaf petiole explants exposed to 25 ul/l ethylene for 0 to 72 h. Explants were prepared from 21 day-old greenhouse grown plants. Leaf abscission zones (LAZ) consisted of 2 mm of tissue collected below the leaf blade. The petioles (NAZ) consisted of approximately ...
ORGANISM(S): Glycine max 
Osteoarthritis (OA) is an age-related degenerative musculoskeletal disease characterised by loss of articular cartilage, synovitis, abnormal bone proliferation and subchondral bone sclerosis. Underlying OA pathogenesis is yet to be fully elucidated with no OA specific biomarkers in clinical use. Ex-...
2020-09-30 | MTBLS1495 | MetaboLights
INTRODUCTION: Blackcurrant (Ribes nigrum L.) is an excellent example of a “super fruit” with potential health benefits. Both genotype and cultivation environment are known to affect the chemical composition of blackcurrant, especially ascorbic acid and various phenolic compounds. Environmental condi...
2019-02-12 | MTBLS773 | MetaboLights
Evidence from several recent metabolomic studies suggests that increased concentrations of triacylglycerols (TAGs) with shorter (14-16 carbon atoms), saturated fatty acids are associated with insulin resistance and the risk of type 2 diabetes. Although causality cannot be inferred from association s...
2017-03-02 | MTBLS327 | MetaboLights
Mucoepidermoid carcinomas (MEC) is the most common salivary gland malignancy. To date, advanced and nonresectable MEC have poor prognosis and no effective treatment. The CRTC1-MAML2 fusion oncogene, which is associated with more than 50% of MEC, consists of the N-terminal CREB-binding domain of the ...
ORGANISM(S): Homo sapiens 
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