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The FBXW7 tumour suppressor is commonly mutated, deleted or hypermethylated in a variety of cancer histologies. The tumour suppressive role of the FBXW7 protein has been ascribed to its ability to drive the ubiquitination and degradation of oncoproteins via its role as a substrate recognition subuni...
ORGANISM(S): Homo sapiens (Human) 
2024-06-16 | PXD043904 | Pride
Ovarian clear cell carcinoma (OCCC) is a cancer of unmet need characterized by ARID1A mutation. Prior work identified an ARID1A/ATR synthetic lethality, information that led to phase II clinical trials. Using genome-wide CRISPR-Cas9 mutagenesis and interference screens, we identified protein phospha...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD040422 | Pride
CDK4/6 inhibition is the standard of care for estrogen receptor positive (ER+) breast cancer, although cytostasis is frequently observed, and new treatment strategies that enhance efficacy are required. We performed a genome-wide CRISPR screen to identify genetic determinants of CDK4/6 inhibitors se...
ORGANISM(S): Homo sapiens (Human) 
2023-06-20 | PXD043133 | Pride
In utero exposure to arsenic via drinking water increases the risk of lower respiratory tract infections during infancy and mortality from bronchiectasis in adulthood. Pregnant mice were exposed to arsenic, and gene expression patterns were profiled in peripheral lung tissue obtained from the offspr...
ORGANISM(S): Mus musculus 
Metastatic uveal melanoma is an aggressive disease with limited effective therapeutic options. To comprehensively map monogenic and digenic dependencies, we performed CRISPR-Cas9 screening in ten extensively profiled human uveal melanoma cell line models using genome-wide single gene/gRNA and combin...
ORGANISM(S): Homo sapiens (Human) 
2025-04-01 | PXD053752 | Pride
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
Analysis of genomic integrity of disease-corrected human induced pluripotent stem cells by exome sequencing
Induced pluripotent stem (iPS) cells hold great promise for autologous cell transplantation. In order to apply this therapy to monogenic disorder, disease-causing mutations must be corrected prior to transplantation. We generated iPS cells from patients with alpha-1 antitrypsin deficiency, which is ...
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