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Mitochondrial fatty acid β-oxidation (FAO) is essential for energy production and cellular homeostasis, yet its specific role in sperm function has remained unclear. Through whole-exome sequencing of 673 patients with asthenozoospermia, we identified biallelic TEX44 variants in six individuals, all ...
2025-07-14 | MTBLS12397 | MetaboLights

Mitochondrial fatty acid β-oxidation (FAO) is essential for energy production and cellular homeostasis, yet its specific role in sperm function has remained unclear. Through whole-exome sequencing of 673800 patients with asthenozoospermia, we identified biallelic TEX44 variants in six individuals...

2025-07-14 | MTBLS12402 | MetaboLights

Ecologically derived synthetic communities can provide robust plant benefits, yet generalizable rules for assembling multifunctional consortia remain limited. We hypothesized that a “top-down” community assembled from an ecological core would yield complementary functions and resilience superior ...

2025-09-22 | MTBLS13022 | MetaboLights
Aberrant DNA methylation (DNAm) was first linked to cancer over 25 years ago. Since then, many studies have associated hypermethylation of tumour suppressor genes and hypomethylation of oncogenes to the tumourigenic process. However, most of these studies have been limited to the analysis of promote...
ORGANISM(S): Homo sapiens 
DNA copy number profiling of malignant peripheral nerve sheath tumours
ORGANISM(S): Homo sapiens 
Aneuploidy is a hallmark of human cancers, but most mouse cancer models lack the extensive aneuploidy seen in many human tumors. The zebrafish is becoming an increasingly popular model for studying cancer. Here we report that malignant peripheral nerve sheath tumors (MPNSTs) that arise in zebrafish ...
ORGANISM(S): Danio rerio 
Background: Malignant peripheral nerve sheath tumors (MPNST) are soft-tissue sarcomas that can arise either sporadically or in association with neurofibromatosis type 1 (NF1). These aggressive malignancies confer poor survival, with no effective therapy available. Methods: We generated five patient-...
ORGANISM(S): Homo sapiens 
The diagnostic differentiation of canine fibrosarcomas and peripheral nerve sheath tumors (PNST) is mainly based on their histopathologic phenotype. Histologic differentiation of these tumors can, however, be difficult and there is a lack of immunohistochemical markers to prove their histogenic orig...
ORGANISM(S): Canis lupus familiaris 
Comparison of copy number changes in MPNST samples against benign neurofibromas in NF1 patients 24 MPNSTs and 3 NF samples were hybridised to the human 32K BAC tiling path array
ORGANISM(S): Homo sapiens 
BRD4 Inhibition of spindle cell malignant peripheral nerve sheath tumor (sMPNST) tumor cells Cells were treated with Brd4 shRNA (3 days) or 500 nM JQ1 (2 days) before RNA isolation
ORGANISM(S): Mus musculus 
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