Publications by authors named "Cedric Fund"
Background: Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia. 11p13 microdeletions altering PAX6 or its downstream regulatory region (DRR) are present in about 25% of patients; however, only a few complex rearrangements have been described to date. Here, we performed nanopore-based whole-genome sequencing to assess the presence of cryptic structural variants (SVs) on the only two unsolved "PAX6-negative" cases from a cohort of 110 patients with congenital aniridia after unsuccessfully short-read sequencing approaches.
View Article and Find Full Text PDFAmphibian post-embryonic development and Thyroid Hormones (TH) signaling are deeply and intimately connected. In anuran amphibians, TH induce the spectacular and complex process known as metamorphosis. In paedomorphic salamanders, at similar development time, raising levels of TH fail to induce proper metamorphosis, as many "larval" tissues (e.
View Article and Find Full Text PDFArticle Synopsis
- The study investigates how DNA replication and gene expression differ between cancerous and non-cancerous human cell types during development, revealing significant alterations in cancer.
- Changes in replication fork directionality (RFD) are common, especially in GC-poor isochores, and are mostly independent of transcriptional changes; cancer cells exhibit RFD profiles similar to non-cancer cells from the same developmental origin.
- Specifically, in chronic myeloid leukemia (CML), prolonged expression of the BCR-ABL1 oncogene leads to a significant shift in replication initiation zones, demonstrating a preference for downregulation and impacting the stability of certain DNA regions throughout cancer progression.