{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["130(9)"],"submitter":["Herman L"],"pubmed_abstract":["<h4>Background</h4>FOXL2 is a transcription factor expressed in ovarian granulosa cells. A somatic variant of FOXL2 (c.402 C > G, p.Cys134Trp) is the hallmark of adult-type granulosa cell tumours.<h4>Methods</h4>We generated KGN cell clones either heterozygous for this variant (MUT) or homozygous for the wild-type (WT) allele by CRISPR/Cas9 editing. They underwent RNA-Seq and bioinformatics analyses to uncover pathways impacted by deregulated genes. Cell morphology and migration were studied.<h4>Results</h4>The differentially expressed genes (DEGs) between WT/MUT and WT/WT KGN cells (DEGs-<sub>WT/MUT</sub>), pointed to several dysregulated pathways, like TGF-beta pathway, cell adhesion and migration. Consistently, WT/MUT cells were rounder than WT/WT cells and displayed a different distrib"],"journal":["British journal of cancer"],"pagination":["1453-1462"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11059147"],"repository":["biostudies-literature"],"pubmed_title":["A cellular model provides insights into the pathogenicity of the oncogenic FOXL2 somatic variant p.Cys134Trp."],"pmcid":["PMC11059147"],"pubmed_authors":["Herman L","Legois B","Amo A","Veitia RA","Di Carlo C","Todeschini AL"],"additional_accession":[]},"is_claimable":false,"name":"A cellular model provides insights into the pathogenicity of the oncogenic FOXL2 somatic variant p.Cys134Trp.","description":"<h4>Background</h4>FOXL2 is a transcription factor expressed in ovarian granulosa cells. A somatic variant of FOXL2 (c.402 C > G, p.Cys134Trp) is the hallmark of adult-type granulosa cell tumours.<h4>Methods</h4>We generated KGN cell clones either heterozygous for this variant (MUT) or homozygous for the wild-type (WT) allele by CRISPR/Cas9 editing. They underwent RNA-Seq and bioinformatics analyses to uncover pathways impacted by deregulated genes. Cell morphology and migration were studied.<h4>Results</h4>The differentially expressed genes (DEGs) between WT/MUT and WT/WT KGN cells (DEGs-<sub>WT/MUT</sub>), pointed to several dysregulated pathways, like TGF-beta pathway, cell adhesion and migration. Consistently, WT/MUT cells were rounder than WT/WT cells and displayed a different distrib","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-04-08T19:20:08.218Z","creation":"2025-04-19T21:17:49.515Z"},"accession":"S-EPMC11059147","cross_references":{"pubmed":["38429437"],"doi":["10.1038/s41416-024-02613-x"]}}