Publications by authors named "Y J Bignon"
Aging is the major risk factor for most human diseases and represents a major socio-economical challenge for modern societies. Despite its importance, the process of aging remains poorly understood. Epigenetic dysregulation has been proposed as a key driver of the aging process.
View Article and Find Full Text PDFDent disease (DD) is a hereditary renal disorder characterized by low molecular weight (LMW) proteinuria and progressive renal failure. Inactivating mutations of the CLCN5 gene encoding the 2Cl/Hexchanger ClC-5 have been identified in patients with DD type 1. ClC-5 is essentially expressed in proximal tubules (PT) where it is thought to play a role in maintaining an efficient endocytosis of LMW proteins.
View Article and Find Full Text PDFBackground: PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous features, hamartomatous tumors, and cancers. Mosaicism has been found in a few cases of patients with de novo PHTS, identified from blood samples.
View Article and Find Full Text PDFCircadian rhythmicity in renal function suggests rhythmic adaptations in renal metabolism. To decipher the role of the circadian clock in renal metabolism, we studied diurnal changes in renal metabolic pathways using integrated transcriptomic, proteomic, and metabolomic analysis performed on control mice and mice with an inducible deletion of the circadian clock regulator Bmal1 in the renal tubule (cKOt). With this unique resource, we demonstrated that approximately 30% of RNAs, approximately 20% of proteins, and approximately 20% of metabolites are rhythmic in the kidneys of control mice.
View Article and Find Full Text PDFArticle Synopsis
- The text discusses "extreme phenotypes" in oncogenetics, referring to patients with unusual cancer presentations, like early onset or multiple malignancies, where genetic predisposition is likely but often not detected through standard gene panels.
- The EXTRICAN project used exome sequencing on rare familial cases of male breast cancer and discovered a novel pathogenic variant linked to breast cancer susceptibility, along with three other significant variants in various early onset and familial breast cancer cases.
- The study highlights the importance of advanced genetic analysis techniques like exome sequencing to uncover rare variants that contribute to cancer risk in patients who don't fit the typical profiles detected by conventional testing methods.