Publications by authors named "Chiharu Esumi"
Article Synopsis
- Osteoclast differentiation involves significant changes in metabolism and gene expression, and recent research highlights the link between these processes during osteoclast development.
- Researchers found that deleting the tumor suppressor gene Folliculin (Flcn) in mouse osteoclast precursors leads to rapid osteoporosis due to excessive osteoclast formation.
- Flcn plays a crucial role in controlling energy production and purine metabolism, influencing a signaling pathway that can be targeted to prevent accelerated osteoclast growth in the absence of this gene.
Germline H255Y and K508R missense mutations in the folliculin (FLCN) gene have been identified in patients with bilateral multifocal (BMF) kidney tumours and clinical manifestations of Birt-Hogg-Dubé (BHD) syndrome, or with BMF kidney tumours as the only manifestation; however, their impact on FLCN function remains to be determined. In order to determine if FLCN H255Y and K508R missense mutations promote aberrant kidney cell proliferation leading to pathogenicity, we generated mouse models expressing these mutants using BAC recombineering technology and investigated their ability to rescue the multi-cystic phenotype of Flcn-deficient mouse kidneys. Flcn H255Y mutant transgene expression in kidney-targeted Flcn knockout mice did not rescue the multi-cystic kidney phenotype.
View Article and Find Full Text PDF