We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober +16 more
wiley +1 more source
Association of lipoprotein lipase genetic risk score with cardiometabolic risk indicators in a healthy Qatari population using the Qatar Biobank data. [PDF]
AlAnazi MM +2 more
europepmc +1 more source
Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source
Genetic risk score informed re-evaluation of phenotype quality control to maximise power in epidemiological studies: application to lung function. [PDF]
Chen J +13 more
europepmc +1 more source
MITF maintains genome stability in nonmelanocyte lineages
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir +13 more
wiley +1 more source
Use of a Maternal Genetic Risk Score to Derive and Test a Genetically Customized Fetal Growth Curve. [PDF]
Joseph M +11 more
europepmc +1 more source
Genetic risk score in multiple sclerosis is associated with unique gut microbiome. [PDF]
Elsayed NS +10 more
europepmc +1 more source
Tumor B‐cell infiltration in platinum‐treated advanced muscle‐invasive urothelial carcinoma
Bladder tumors with higher pretreatment memory B‐cell infiltration were linked to longer survival after cisplatin chemotherapy, but not carboplatin. These tumors also showed more organized immune structures (tertiary lymphoid structures) and a shared pro‐inflammatory B‐cell‐rich community, suggesting that memory B cells may help identify patients most ...
Konrad Stawiski +10 more
wiley +1 more source
Genetic risk score for cholesteatoma recurrence: using UK Biobank data toward more individualized patient management. [PDF]
Vlastos IM +5 more
europepmc +1 more source
Liquid biopsy‐based diagnostic evaluation of hypermethylated CpG sites for ovarian cancer diagnosis
This schematic outlines the workflow from biomarker identification to duplex MethyLight assay validation for epithelial ovarian cancer diagnosis using cfDNA‐based liquid biopsy. Initial screening of hypermethylated CpG candidates (cg02957270, cg10061138 cg00480298, COL2A1) was performed in tissue using ARMS‐PCR, COBRA, qPCR and image analysis. Selected
Deepa Bisht +3 more
wiley +1 more source

