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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
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

OBJECTIVES: This study used hydrogen nuclear magnetic resonance spectroscopy (1H NMR) for the first-time to examine differences in the metabolomic profile of stifle joint synovial fluid from dogs with cranial cruciate ligament rupture with and without meniscal injuries, in order ...

2025-08-14 | MTBLS6050 | MetaboLights

Osteoarthritis (OA) is characterised by loss of articular cartilage, synovial membrane dysfunction and subchondral sclerosis. Few studies have used a global approach to stratify equine synovial fluid (SF) molecular profiles according to OA severity. SF was collected from 58 metacarpophalangeal (M...

2025-10-16 | MTBLS1645 | MetaboLights
In arthritis, synovial fibroblast (SF) senescence is linked to the activation of a pro-inflammatory phenotype contributing to chronic arthritis pathogenesis. Additionally, senescent cells accumulate in ageing tissues further promoting ageing and inflammation. These cells have dysregulated mitochondr...
ORGANISM(S): Homo sapiens (Human) 
2022-10-15 | PXD032757 | Pride
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